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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEKT3	64518	broad.mit.edu	37	17	15211980	15211980	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:15211980C>T	ENST00000395930.1	-	8	1443		c.e8+1		TEKT3_ENST00000338696.2_Splice_Site	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3						microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCCACCTTACCGTAGCTGAG	0.587000													41	100					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566326	41566326	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:41566326C>T	ENST00000396942.1	-	17	2051	c.1968G>A	c.(1966-1968)tcG>tcA	p.S656S	ANK1_ENST00000379758.2_Silent_p.S656S|ANK1_ENST00000352337.4_Silent_p.S656S|ANK1_ENST00000265709.8_Silent_p.S689S|ANK1_ENST00000396945.1_Silent_p.S656S|ANK1_ENST00000289734.7_Silent_p.S656S|ANK1_ENST00000347528.4_Silent_p.S656S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	656	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCTTGTTTCGAGAGCAGCA	0.582000													91	188					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57810592	57810592	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:57810592G>A	ENST00000281282.5	+	10	2690	c.2610_splice	c.e10-1	p.G871_splice		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	871						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCATTGTAGGGAGAAATACGA	0.468000													8	19					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48209460	48209460	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48209460C>T	ENST00000298396.2	-	6	480	c.428G>A	c.(427-429)gGa>gAa	p.G143E	SSX3_ENST00000376893.3_Missense_Mutation_p.G143E|SSX3_ENST00000376895.1_Missense_Mutation_p.G55E	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						AGTTGGTTTTCCCGGGGGGCA	0.502000													135	64					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41980057	41980057	+	Missense_Mutation	SNP	G	G	A	rs138410974		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:41980057G>A	ENST00000216259.7	-	5	464	c.380C>T	c.(379-381)aCc>aTc	p.T127I	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	127					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CTCGATGAAGGTTCCACTGGT	0.592000													31	108					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030750	10030750	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10030750C>T	ENST00000378380.3	+	6	1862	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.A511A|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TGAAAAAGGCCTTTGAATCAG	0.388000													44	69					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882759	228882759	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228882759G>A	ENST00000392056.3	-	7	2857	c.2811C>T	c.(2809-2811)gtC>gtT	p.V937V	SPHKAP_ENST00000344657.5_Silent_p.V937V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	937	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATGGAGACGACCGTGTCTG	0.473000													70	118					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89847482	89847482	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89847482C>T	ENST00000370456.4	+	7	1194	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	GBP6_ENST00000535065.1_Silent_p.F237F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	367							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTGCAATCTTCATGGAGCACT	0.502000													22	62					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056125	64056125	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64056125C>T	ENST00000438980.2	+	6	1070	c.963C>T	c.(961-963)ttC>ttT	p.F321F	GPR137_ENST00000313074.3_Silent_p.F321F|GPR137_ENST00000539851.1_Intron|GPR137_ENST00000411458.1_Silent_p.F379F|GPR137_ENST00000377702.4_Silent_p.F271F	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	321						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGTCCTACTTCTTTGACCGGG	0.612000													10	29					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716648	101716648	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:101716648G>A	ENST00000342239.3	-	4	674	c.583C>T	c.(583-585)Cca>Tca	p.P195S	DNMBP_ENST00000324109.4_Missense_Mutation_p.P195S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	195	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		AAACCTTCTGGAAAAATGCCT	0.478000													26	157					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442470	138442470	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138442470G>A	ENST00000344876.4	-	4	3507	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S	PCDH18_ENST00000511115.1_Missense_Mutation_p.P221S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P252S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P820S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1040S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1041	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)					GCTGGCAAGGGTCCCTTCCTG	0.577000													46	60					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967673	16967673	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:16967673G>A	ENST00000377833.4	-	42	6437	c.6372C>T	c.(6370-6372)gtC>gtT	p.V2124V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2124	CUB 15.				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)	GGCCACTTTGGACCAGGACGT	0.502000													6	94					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28601482	28601482	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:28601482C>T	ENST00000253063.3	+	8	1488	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	389					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCGTGCTCCGCAGGGCCA	0.552000													19	57					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408639	166408639	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166408639G>A	ENST00000402744.4	+	6	1303	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	341					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATCACCGTGGAGCTTAGCT	0.443000													37	83					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677397	37677397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37677397G>A	ENST00000532828.2	-	5	1293	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q293*|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCTACTTTGAATCTTCTCA	0.408000													66	154					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54614659	54614659	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:54614659G>A	ENST00000302287.3	+	3	672	c.266G>A	c.(265-267)aGa>aAa	p.R89K	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R88K|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R89K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R89K|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R89K			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	89	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TTGCCCGACAGAGACCCGGAC	0.726000													28	64					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45009490	45009490	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45009490C>T	ENST00000415811.2	+	4	316	c.261C>T	c.(259-261)ttC>ttT	p.F87F	GOSR2_ENST00000575949.1_Silent_p.F87F|GOSR2_ENST00000439730.2_Silent_p.F87F|RP11-156P1.2_ENST00000571841.1_Silent_p.F87F|GOSR2_ENST00000576910.2_Silent_p.F87F|GOSR2_ENST00000393456.2_Silent_p.F87F|GOSR2_ENST00000225567.4_Silent_p.F87F	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	87					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TCAGAAACTTCCAGCATCGGC	0.537000													118	197					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134538	128134538	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:128134538G>A	ENST00000368250.1	-	5	1509	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	THEMIS_ENST00000368248.2_Silent_p.I416I|THEMIS_ENST00000537166.1_Silent_p.I381I|THEMIS_ENST00000543064.1_Silent_p.I416I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	416	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTTTGAGGATTTTTTCAC	0.448000													41	74					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660057	52660057	+	Silent	SNP	C	C	T	rs78442342		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52660057C>T	ENST00000322146.8	-	5	1400	c.879G>A	c.(877-879)cgG>cgA	p.R293R	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.R293R	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGACTTCTCCGGTGATTTA	0.393000													29	71					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225528	21225528	+	Missense_Mutation	SNP	C	C	T	rs61743313	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21225528C>T	ENST00000233242.1	-	29	12893	c.12766G>A	c.(12766-12768)Gag>Aag	p.E4256K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4256					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTTAACTCGAAAGGAAGT	0.378000													41	113					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500924	26500924	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26500924G>A	ENST00000543632.1	+	17	1989	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCCGTCGGAAGGCGCTGGAGC	0.682000													13	15					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231069593	231069593	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:231069593G>A	ENST00000366661.4	-	9	922	c.915C>T	c.(913-915)tcC>tcT	p.S305S	TTC13_ENST00000414259.1_Silent_p.S252S|TTC13_ENST00000366662.4_Silent_p.S252S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	305							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)		CTTCTTTGAAGGATTCAATAG	0.294000													44	74					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568314	223568314	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223568314G>A	ENST00000366875.3	+	1	1600	c.1497G>A	c.(1495-1497)agG>agA	p.R499R		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	499										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGAACAGAGGAAGATGCGCA	0.602000													36	95					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827830	1827830	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1827830C>T	ENST00000566339.1	-	6	969	c.639G>A	c.(637-639)cgG>cgA	p.R213R	SPSB3_ENST00000301717.4_Silent_p.R213R	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	213	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCTGGCCGAACCGCGATGAGA	0.647000													28	37					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106450	10106450	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10106450G>A	ENST00000287647.3	+	23	2152	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	FANCD2_ENST00000383807.1_Missense_Mutation_p.E687K|FANCD2_ENST00000383806.1_Missense_Mutation_p.E687K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E687K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	687					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTACGGACTGGAAGAATACGA	0.498000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	217					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56448184	56448184	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:56448184G>A	ENST00000290649.5	-	2	538	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	110					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.L110V(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CTCACTCGAAGAGGGCCAAAC	0.378000													62	49					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108559762	108559762	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:108559762C>T	ENST00000526794.1	+	7	980	c.948C>T	c.(946-948)agC>agT	p.S316S	DDX10_ENST00000322536.3_Silent_p.S316S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	316	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGAAGAAGAGCATTGTATTTT	0.383000			T	NUP98	AML*								16	184					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822116	24822116	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24822116G>A	ENST00000376451.2	+	11	2673	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	KIAA1217_ENST00000307544.6_Missense_Mutation_p.D805N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D805N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1086N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D805N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1042N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1087N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1122N			Q5T5P2	SKT_HUMAN	KIAA1217	1122					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCTCAAAGGATGAGGAGGA	0.547000													26	72					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754976	140754976	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140754976G>A	ENST00000517434.1	+	1	1326	c.1326G>A	c.(1324-1326)gtG>gtA	p.V442V	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAAATGTGGCAGACACCA	0.498000													7	193					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962572	73962572	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:73962572G>A	ENST00000373468.1	-	3	2471	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S607F			Q5QGS0	K2022_HUMAN	KIAA2022	607					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGCTTTTGGGAAAAAGGTGT	0.458000													18	11					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32010436	32010436	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:32010436G>A	ENST00000438447.1	+	6	1643	c.1254_splice	c.e6-1	p.E419_splice	PDZD2_ENST00000282493.3_Splice_Site_p.E419_splice			O15018	PDZD2_HUMAN	PDZ domain containing 2	419	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCCATAGGAAAACTCCGC	0.498000													10	221					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768112	77768112	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77768112G>A	ENST00000521891.2	+	10	9403	c.8955G>A	c.(8953-8955)aaG>aaA	p.K2985K	ZFHX4_ENST00000455469.2_Silent_p.K2940K|ZFHX4_ENST00000050961.6_Silent_p.K2940K|ZFHX4_ENST00000518282.1_Silent_p.K2959K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2940						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAGGAAAAGAAATTTAAAA	0.468000										HNSCC(33;0.089)			15	30					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134454	58134454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:58134454C>T	ENST00000357272.4	+	36	6131	c.5966C>T	c.(5965-5967)cCc>cTc	p.P1989L	FLNB_ENST00000358537.3_Missense_Mutation_p.P1965L|FLNB_ENST00000429972.2_Missense_Mutation_p.P1978L|FLNB_ENST00000419752.2_Missense_Mutation_p.P1809L|FLNB_ENST00000348383.5_Missense_Mutation_p.P1989L|FLNB_ENST00000493452.1_Missense_Mutation_p.P1796L|FLNB_ENST00000490882.1_Missense_Mutation_p.P2020L|FLNB_ENST00000295956.4_Missense_Mutation_p.P1989L			O75369	FLNB_HUMAN	filamin B, beta	1989	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAACAGCCCCGTGTCTATC	0.577000													39	54					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372474	55372474	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55372474C>T	ENST00000297316.4	+	2	1368	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	388	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GTGTGAATCTCCCCGACAGCC	0.607000													21	53					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355058	103355058	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103355058G>T	ENST00000358392.2	-	59	4770	c.4453C>A	c.(4453-4455)Cga>Aga	p.R1485R	COL11A1_ENST00000353414.4_Silent_p.R1434R|COL11A1_ENST00000512756.1_Silent_p.R1357R|COL11A1_ENST00000370096.3_Silent_p.R1473R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1473	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGAGCCCTCGGTCACCTTTT	0.413000													38	101					5.04308e-16	5.08626e-16	1	1	0
KRT31	3881	broad.mit.edu	37	17	39551553	39551553	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39551553C>T	ENST00000251645.2	-	5	872	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	274	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGTCTCAGCTCGATGATCTCC	0.577000													57	133					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386251	56386251	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56386251C>T	ENST00000355701.3	-	22	5252	c.4382G>A	c.(4381-4383)gGa>gAa	p.G1461E	BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1461E|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1401E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1461						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCTCTAGTCCAGTCCTGGG	0.701000													16	90					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340907	39340907	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39340907C>T	ENST00000454994.2	-	2	1140	c.864G>A	c.(862-864)gtG>gtA	p.V288V	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Silent_p.V288V|GJA9_ENST00000357771.3_Silent_p.V288V|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	288					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTGCTTTTCCACTAACAGAT	0.393000													54	108					0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64757095	64757095	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64757095G>A	ENST00000301887.4	-	3	461	c.331C>T	c.(331-333)Cca>Tca	p.P111S	BATF2_ENST00000527716.1_Missense_Mutation_p.P87S|BATF2_ENST00000435842.2_Missense_Mutation_p.P26S	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	111						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGTCCCTGTGGGCCAGGGCCC	0.667000													5	15					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23931540G>A	ENST00000331837.4	-	1	910	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	275	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.I275I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACTCCATGATTTGCATCT	0.582000									Prader-Willi syndrome				16	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592872	179592872	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179592872C>T	ENST00000589042.1	-	67	19903	c.19679G>A	c.(19678-19680)gGa>gAa	p.G6560E	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6243E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5316E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6243	Ig-like 47.						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)			TGCATCATCTCCTGCTACATT	0.383000													11	24					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66426155	66426155	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:66426155C>T	ENST00000404260.3	+	15	2180	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	MAST4_ENST00000403625.2_Silent_p.I621I|MAST4_ENST00000405643.1_Silent_p.I442I|MAST4_ENST00000403666.1_Silent_p.I432I|MAST4_ENST00000261569.7_Silent_p.I427I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	624	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCGGGATATCCTGACTTTTG	0.463000													39	75					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682616	48682616	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48682616G>A	ENST00000544264.1	-	26	8119	c.7839C>T	c.(7837-7839)ctC>ctT	p.L2613L	CELSR3_ENST00000164024.4_Silent_p.L2608L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2608					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTAGTGCAGGAGGATGGCGA	0.652000													12	35					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26612380	26612380	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26612380C>A	ENST00000314675.7	-	5	427	c.348G>T	c.(346-348)aaG>aaT	p.K116N	UBXN11_ENST00000374222.1_Missense_Mutation_p.K236N|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000374221.3_Missense_Mutation_p.K236N|UBXN11_ENST00000374217.2_Missense_Mutation_p.K203N|UBXN11_ENST00000357089.4_Missense_Mutation_p.K203N|UBXN11_ENST00000436301.2_Missense_Mutation_p.K161N|UBXN11_ENST00000535108.1_Missense_Mutation_p.K78N	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	236						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCCGGTAGAGCTTCAGCGGGA	0.627000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	68					2.08457e-15	2.10188e-15	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132636806	132636806	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:132636806G>A	ENST00000367963.3	-	10	1594	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MOXD1_ENST00000336749.3_Silent_p.F424F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	492					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TAACCCCAATGAACTGAAGTT	0.378000													65	183					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82361990	82361990	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:82361990T>A	ENST00000509081.1	-	10	1320	c.1099A>T	c.(1099-1101)Aag>Tag	p.K367*	RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.K326*|RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.K368*			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	368	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTGCATACCTTTTCTCTACTA	0.368000													10	250					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721849	198721849	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:198721849T>A	ENST00000367376.2	+	31	3622	c.3451T>A	c.(3451-3453)Tcc>Acc	p.S1151T	PTPRC_ENST00000442510.2_Missense_Mutation_p.S1153T|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1103T|PTPRC_ENST00000348564.6_Missense_Mutation_p.S992T|PTPRC_ENST00000594404.1_Missense_Mutation_p.S990T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1151	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						CCAGAAGAATTCCTCTGAAGG	0.433000													25	61					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27909082	27909082	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27909082G>A	ENST00000225394.3	-	5	734	c.486C>T	c.(484-486)ttC>ttT	p.F162F	GIT1_ENST00000581348.1_Silent_p.F162F|GIT1_ENST00000579937.1_Silent_p.F162F|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.F162F	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	162					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCTCTGGGTGGAAGAAGTTGG	0.622000													21	34					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952084	196952084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196952084C>T	ENST00000367414.5	+	2	256	c.200C>T	c.(199-201)tCc>tTc	p.S67F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S43F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACCCTTTTTCCCAAGTTCCT	0.348000													45	112					0	0	1	0	0
TCEB2	6923	broad.mit.edu	37	16	2825462	2825462	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2825462G>A	ENST00000409477.1	-	2	298	c.219C>T	c.(217-219)gcC>gcT	p.A73A	TCEB2_ENST00000409906.4_Silent_p.A78A|TCEB2_ENST00000262306.7_Silent_p.A78A|TCEB2_ENST00000572954.1_Intron			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	78					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						CTGCCCGGAAGGCCAGCCCCA	0.607000													16	47					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141243	143141243	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143141243G>A	ENST00000332690.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	233					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACAACCTCAGGATTCCGAGAG	0.473000													84	152					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11157221	11157221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:11157221C>T	ENST00000337414.4	-	13	3559	c.2687G>A	c.(2686-2688)tGg>tAg	p.W896*	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.W693*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.W693*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	896					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCTGGATCCAGGCTGCCGC	0.692000													22	6					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903767	40903767	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40903767G>A	ENST00000324001.7	-	7	762	c.492C>T	c.(490-492)tcC>tcT	p.S164S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	164	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACGCAGGCGGGAGAACTTGG	0.667000													9	16					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000													18	75					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112578	18112578	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:18112578G>A	ENST00000403915.1	+	3	754	c.303G>A	c.(301-303)caG>caA	p.Q101Q	KCNS3_ENST00000304101.4_Silent_p.Q101Q|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	101					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATTCTGCCAGGAGATCGAGT	0.483000													63	110					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	22					0	0	1	0	0
DNAH17-AS1	100996295	broad.mit.edu	37	17	76496370	76496370	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76496370G>A	ENST00000598378.1	+	1	1460	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000585328.1_Intron																							TCCCTCCTCCGGACCCCGGCC	0.572000													12	29					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121712840	121712840	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:121712840G>A	ENST00000452319.1	+	5	537	c.477G>A	c.(475-477)aaG>aaA	p.K159K	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.K159K|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	159					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCACCTTAAGGAGAGGGGAC	0.582000													7	65					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040863	5040863	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:5040863C>T	ENST00000251170.7	+	5	621	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	147	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGAGAAGATCGCCATGAAGC	0.522000													15	19					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511086	76511086	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76511086C>T	ENST00000389840.5	-	26	3995	c.3871G>A	c.(3871-3873)Gac>Aac	p.D1291N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1292N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCTTCCAGTCCTCGATGCTG	0.433000													20	76					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254197	44254197	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44254197G>A	ENST00000371505.4	-	3	472	c.350C>T	c.(349-351)cCa>cTa	p.P117L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	117										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACAGCCAGTGGTAGGTCAGG	0.607000													90	264					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130653500	130653500	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130653500C>T	ENST00000510168.1	+	5	819	c.269C>T	c.(268-270)tCt>tTt	p.S90F	ATP2C1_ENST00000422190.2_Missense_Mutation_p.S90F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S74F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S85F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S90F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S90F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S35F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S90F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S124F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S90F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	90					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTTCTGGCTTCTGCAGTCATC	0.343000									Hailey-Hailey disease				26	48					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69701576	69701576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:69701576C>T	ENST00000409014.1	+	7	1159	c.502C>T	c.(502-504)Cga>Tga	p.R168*	EXD2_ENST00000312994.5_Nonsense_Mutation_p.R293*|EXD2_ENST00000409018.3_Nonsense_Mutation_p.R293*|EXD2_ENST00000409675.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000449989.1_Nonsense_Mutation_p.R168*	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	168					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						CATCCCATTTCGAAGCAAAGG	0.443000													16	40					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777414	95777414	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:95777414T>C	ENST00000414645.2	+	9	973	c.874T>C	c.(874-876)Tat>Cat	p.Y292H		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	292						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ACAACAGGTTTATGAAGTTTA	0.244000													6	137					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75323563	75323563	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:75323563G>A	ENST00000556084.2	-	2	867	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	PROX2_ENST00000556489.2_Missense_Mutation_p.R517C|PROX2_ENST00000445876.1_Missense_Mutation_p.R517C	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	517					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTGAATTGCGGAGAACCACC	0.418000													18	142					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208145	58208145	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:58208145G>A	ENST00000377918.3	+	1	1491	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	489	Cadherin 5.			E -> D (in Ref. 1; AAB84144).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CATCCCGGGAGAGTACCTGGG	0.582000													5	61					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894407	54894407	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54894407C>T	ENST00000293373.6	+	3	383	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R52W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	102					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGAATTTCGGGTGAGCTC	0.393000													37	80					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789592	3789592	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3789592G>A	ENST00000262367.5	-	25	5076	c.4267C>T	c.(4267-4269)Cct>Tct	p.P1423S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1385S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1423	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGTTTGGAGGGGGGCAATCA	0.512000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						14	59					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261661	122261661	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122261661C>T	ENST00000334010.7	-	5	1399	c.978G>A	c.(976-978)tcG>tcA	p.S326S	CADPS2_ENST00000449022.2_Silent_p.S326S|CADPS2_ENST00000412584.2_Silent_p.S326S|CADPS2_ENST00000313070.7_Silent_p.S326S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	326					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.S326S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCACCTTTCGAAACTGGAA	0.368000													33	133					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689958	241689958	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241689958G>A	ENST00000498729.2	-	28	3111	c.2865C>T	c.(2863-2865)ttC>ttT	p.F955F	KIF1A_ENST00000320389.7_Silent_p.F854F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	854					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.F854F(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGGTACACGAAGGCCCTGG	0.647000													11	21					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435052	18435052	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18435052G>A	ENST00000433979.1	+	2	153	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E13K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E13K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E13K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	13					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)				AAATCCTAATGAATCACACGA	0.363000													8	12					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625528	73625528	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73625528A>T	ENST00000317905.5	-	16	2134	c.1975T>A	c.(1975-1977)Ttc>Atc	p.F659I	RECQL5_ENST00000423245.2_Missense_Mutation_p.F632I|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	659					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			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)			CCTTTGGGGAAACCAGCTCCC	0.642000								Other identified genes with known or suspected DNA repair function					20	97					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898783	175898783	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175898783C>T	ENST00000359240.3	+	5	2777	c.2107C>T	c.(2107-2109)Cca>Tca	p.P703S	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P703S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P703S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P703S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	703					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAAGTAAACCAATAAAAAA	0.338000													15	55					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660967	227660967	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:227660967G>A	ENST00000305123.4	-	1	3508	c.2488C>T	c.(2488-2490)Cca>Tca	p.P830S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	830					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGGGGATGTGGAAGGCTGGGC	0.622000													51	81					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951519	176951519	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176951519G>A	ENST00000329540.5	-	9	3670	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	FAM193B_ENST00000514747.1_Missense_Mutation_p.P655S|FAM193B_ENST00000443375.2_Missense_Mutation_p.P622S			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	331										kidney(1)|large_intestine(3)	4						CTGGCTGGGGGCCGGGGGGCT	0.662000													20	35					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612882	51612882	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:51612882C>A	ENST00000371117.3	-	58	9807	c.9532G>T	c.(9532-9534)Ggt>Tgt	p.G3178C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G3178C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3178					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAAAGACCAATAGTATTG	0.418000													6	333					0.00116845	0.00117123	1	1	0
TATDN3	128387	broad.mit.edu	37	1	212981151	212981151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212981151C>A	ENST00000366974.4	+	8	655	c.561C>A	c.(559-561)taC>taA	p.Y187*	TATDN3_ENST00000532324.1_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000526997.1_Intron|TATDN3_ENST00000526641.1_Nonsense_Mutation_p.Y166*|TATDN3_ENST00000366973.4_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000531963.1_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000525569.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	187						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GAGCTGGGTACTTCTTCTCAA	0.373000													57	60					7.50695e-29	7.594e-29	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44933871	44933871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44933871G>A	ENST00000291187.4	-	6	1389	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.S362L	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGAAGAACCGATTTATACCT	0.498000													61	132					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351121	134351121	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:134351121G>T	ENST00000357304.4	+	15	3660	c.3605G>T	c.(3604-3606)gGg>gTg	p.G1202V	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1202							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGGGCCTTTGGGCGAGCCCTC	0.607000													11	28					1.58986e-06	1.59623e-06	1	1	0
NBAS	51594	broad.mit.edu	37	2	15415939	15415939	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:15415939A>G	ENST00000281513.5	-	44	5418	c.5393T>C	c.(5392-5394)cTt>cCt	p.L1798P	NBAS_ENST00000441750.1_Missense_Mutation_p.L1678P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1798										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTGTAATTAAGACCTAGCAG	0.363000													26	54					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285873	48285873	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48285873C>G	ENST00000320048.1	+	1	461	c.461C>G	c.(460-462)tCt>tGt	p.S154C		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTGCTGCATTCTGTTGGGCAA	0.567000													22	67					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3118958	3118958	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3118958T>G	ENST00000304094.1	+	1	44	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCATCCTCCTGGGAGTTACT	0.423000													6	136					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768826	31768826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:31768826C>T	ENST00000240587.4	-	2	2200	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	625					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATCTTCTCCTCCACTTTGGCA	0.582000													6	128					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44376720	44376720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44376720C>T	ENST00000587539.1	-	3	1645	c.1646G>A	c.(1645-1647)aGa>aAa	p.R549K	ZNF404_ENST00000324394.6_Missense_Mutation_p.R547K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CATTAAGAGTCTCTCACCATG	0.353000													11	26					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73602166	73602166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:73602166C>T	ENST00000544909.1	+	2	462	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.H68Y|PAAF1_ENST00000544552.1_Missense_Mutation_p.H51Y|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.H51Y|PAAF1_ENST00000376384.5_Missense_Mutation_p.H51Y			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	68					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GAAAAGCATTCATATTTCATG	0.303000													8	38					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324211	152324211	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152324211C>T	ENST00000388718.5	-	3	6123	c.6051G>A	c.(6049-6051)caG>caA	p.Q2017Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2017							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACCCTCTCTGTGTGGACT	0.532000													324	435					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1467361	1467361	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:1467361C>T	ENST00000331035.4	+	4	570	c.221C>T	c.(220-222)tCc>tTc	p.S74F	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	74						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAGCAATTTCCTTATGTGAA	0.453000													16	444					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203144486	203144486	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203144486C>T	ENST00000255416.4	-	2	366	c.309G>A	c.(307-309)caG>caA	p.Q103Q		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	103	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GCACATAGCCCTGGAGGCCCA	0.627000													137	173					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71397854	71397854	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:71397854G>A	ENST00000392650.3	-	20	2718	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	SDK2_ENST00000388726.3_Silent_p.I906I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	906	Fibronectin type-III 4.				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						ATGTGTCCAGGATCTCACTGA	0.587000													7	9					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143570778C>T	ENST00000517894.1	+	16	3504	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	BAI1_ENST00000323289.5_Silent_p.I870I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	870					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.I870I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTGGAGATCGAGTTTGCCC	0.567000													7	138					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95219028	95219028	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:95219028C>T	ENST00000005178.5	-	7	892	c.694_splice	c.e7-1	p.G232_splice		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	232	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGAAATTTTCCTAGAAAAAT	0.313000													47	166					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30990593	30990593	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30990593G>A	ENST00000262519.8	+	14	4172	c.3486G>A	c.(3484-3486)aaG>aaA	p.K1162K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCCACCCAAGAAACGCCGGA	0.706000													15	49					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623493	34623493	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:34623493G>A	ENST00000378909.2	-	4	886	c.794C>T	c.(793-795)cCa>cTa	p.P265L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	265	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACCCTGGGCTGGGCCAGGGCT	0.692000													66	115					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870712	111870712	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111870712C>T	ENST00000305815.5	-	28	3768	c.3516G>A	c.(3514-3516)agG>agA	p.R1172R	SLC9C1_ENST00000487372.1_Silent_p.R1124R	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1172					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ACCTGACTTTCCTTAGGTTTA	0.512000													33	72					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198044	101198044	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:101198044G>A	ENST00000294728.2	+	7	1697	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	VCAM1_ENST00000370119.4_Missense_Mutation_p.M470I|VCAM1_ENST00000370115.1_Missense_Mutation_p.M333I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M440I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	532	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTGAATATGACATGCTTGA	0.532000													41	76					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881606	69881606	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:69881606G>A	ENST00000358913.5	+	2	899	c.411G>A	c.(409-411)agG>agA	p.R137R	MYPN_ENST00000373675.3_Silent_p.R137R|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.R137R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	137	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGCAAAAAGGCCACAGTATT	0.438000													32	56					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582653	180582653	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180582653G>A	ENST00000328275.1	+	1	711	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGAAAAAGGCCCTGGCCA	0.577000													61	113					0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370230	187370230	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:187370230C>A	ENST00000337859.6	+	7	997	c.770C>A	c.(769-771)gCc>gAc	p.A257D	ZC3H15_ENST00000544130.1_Missense_Mutation_p.A52D	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	257	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TCTTTTCTTGCCTGGAAGAAA	0.368000													30	70					3.1745e-13	3.19839e-13	1	1	0
MIOX	55586	broad.mit.edu	37	22	50927998	50927998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50927998G>A	ENST00000395732.3	+	9	696	c.674G>A	c.(673-675)tGg>tAg	p.W225*	MIOX_ENST00000216075.6_Nonsense_Mutation_p.W225*|MIOX_ENST00000395733.3_Intron			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	225					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTACCCCTGGCACACGGGC	0.687000													18	53					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094105	46094105	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46094105G>A	ENST00000323040.4	-	2	1964	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	340						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCGCCCAGCTGCCAGTCATGG	0.632000													9	147					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493621	55493621	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55493621G>A	ENST00000543010.1	+	6	698	c.555G>A	c.(553-555)atG>atA	p.M185I	NLRP2_ENST00000263437.6_Missense_Mutation_p.M182I|NLRP2_ENST00000427260.2_Missense_Mutation_p.M162I|NLRP2_ENST00000537859.1_Missense_Mutation_p.M163I|NLRP2_ENST00000339757.7_Missense_Mutation_p.M163I|NLRP2_ENST00000538819.1_Missense_Mutation_p.M161I|NLRP2_ENST00000391721.4_Missense_Mutation_p.M161I|NLRP2_ENST00000448584.2_Missense_Mutation_p.M185I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	185					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCCAGGTTATGGCTGAGAGAT	0.512000													90	221					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3819272	3819272	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3819272G>A	ENST00000262367.5	-	15	3772	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P950L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	988					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAGGTCCTGGCTGCTGGGA	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	113					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801399	42801399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:42801399G>A	ENST00000514985.1	-	5	825	c.569C>T	c.(568-570)tCt>tTt	p.S190F	SEPP1_ENST00000507920.1_Missense_Mutation_p.L80F|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.S190F|SEPP1_ENST00000511224.1_Missense_Mutation_p.S190F	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	190					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AGTAGCCAAAGATACACGTTT	0.373000													6	134					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9264799G>A	ENST00000318602.7	-	4	746	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000													20	46					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545595	23545595	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23545595C>T	ENST00000376979.3	-	3	732	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	145						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCAGTGGAATCCCTCCAAGCA	0.537000													36	78					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110393629	110393629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110393629G>A	ENST00000378402.5	+	3	298	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	65	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTTAACTATGGAGTTGATAAC	0.328000										HNSCC(38;0.096)			6	4					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685049	248685049	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248685049C>T	ENST00000343414.4	+	1	134	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTGTACTTCTACGTCTTGA	0.463000													11	133					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820059	113820059	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113820059T>A	ENST00000393200.2	+	5	434	c.273T>A	c.(271-273)ggT>ggA	p.G91G	IL36RN_ENST00000346807.3_Silent_p.G91G	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	91						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTATCTTGGTGCCAAGGAAT	0.627000													21	61					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389682	27389682	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:27389682G>A	ENST00000379214.4	-	18	3031	c.2588C>T	c.(2587-2589)tCg>tTg	p.S863L	LGR4_ENST00000389858.4_Missense_Mutation_p.S839L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	863						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAAAAGAAACGATTCGCAGCA	0.473000													51	151					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640794	179640794	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179640794C>T	ENST00000589042.1	-	28	6021	c.5797G>A	c.(5797-5799)Gaa>Aaa	p.E1933K	TTN_ENST00000359218.5_Missense_Mutation_p.E1887K|TTN_ENST00000591111.1_Missense_Mutation_p.E1933K|TTN_ENST00000342992.6_Missense_Mutation_p.E1933K|TTN_ENST00000460472.2_Missense_Mutation_p.E1887K|TTN_ENST00000342175.6_Missense_Mutation_p.E1887K|TTN_ENST00000360870.5_Missense_Mutation_p.E1933K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1665							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)			CTAAAATCTTCCCTCTGTTGA	0.448000													83	147					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749390	33749390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33749390C>T	ENST00000394562.1	-	4	1181	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLFN12_ENST00000452764.3_Missense_Mutation_p.E220K|SLFN12_ENST00000304905.5_Missense_Mutation_p.E220K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	220							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGAATCTCTTTAATTCGT	0.313000													46	96					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2435703	2435703	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2435703C>T	ENST00000419816.2	+	22	3576	c.3302C>T	c.(3301-3303)cCc>cTc	p.P1101L	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.P1065L|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.P1101L			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1101					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCAGGTGCCCACGGAGCCC	0.716000													9	17					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65298196	65298196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65298196C>T	ENST00000524944.1	+	7	979	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	SCYL1_ENST00000420247.2_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000527630.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.Q173*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.Q316*			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	316					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGTGCTGCCCCAGCTGCTGAC	0.592000													53	95					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575824	52575824	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52575824G>A	ENST00000395489.2	-	11	1458	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	A1CF_ENST00000373993.1_Silent_p.F361F|A1CF_ENST00000395495.1_Silent_p.F306F|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000374001.1_Silent_p.F361F|A1CF_ENST00000373995.3_Silent_p.F369F|A1CF_ENST00000373997.3_Silent_p.F361F|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.F361F	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	361					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGTGGCTGGGAAATGAAGAC	0.488000													41	60					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086261	5086261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5086261G>A	ENST00000399604.4	-	1	1431	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	ZNF594_ENST00000575779.1_Missense_Mutation_p.P431S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATACACAAGGTTTTTCTCCA	0.393000													74	205					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139323142	139323142	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:139323142G>A	ENST00000395297.1	-	3	269	c.99C>T	c.(97-99)acC>acT	p.T33T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	33										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)			ACACCTTCAAGGTCACTCGGA	0.493000										HNSCC(54;0.14)			5	102					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200173566	200173566	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:200173566C>T	ENST00000443023.1	-	9	2945	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	SATB2_ENST00000417098.1_Missense_Mutation_p.D553N|SATB2_ENST00000457245.1_Missense_Mutation_p.D553N|SATB2_ENST00000428695.1_Missense_Mutation_p.D435N|SATB2_ENST00000260926.5_Missense_Mutation_p.D553N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	553						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGATGACATCCCTCTCATGC	0.592000													58	106					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621293	69621293	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:69621293G>A	ENST00000337103.4	+	8	2565	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	C8orf34_ENST00000539993.1_Missense_Mutation_p.E350K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E436K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E94K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	350					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCCAGATGAAAAAATCCC	0.328000													17	34					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486410	45486410	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:45486410G>A	ENST00000359600.5	-	12	2705	c.2500C>T	c.(2500-2502)Cat>Tat	p.H834Y		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	834							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)					GAGGAAGAATGAATGTGCTTC	0.458000													135	241					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800779	27800779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27800779C>T	ENST00000408964.2	+	1	1391	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	447										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGGAGGTATCAATGGGGCTA	0.463000													6	114					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38158937	38158937	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:38158937C>T	ENST00000379747.4	-	8	1141	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	POSTN_ENST00000379749.4_Missense_Mutation_p.G342R|POSTN_ENST00000541481.1_Missense_Mutation_p.G342R|POSTN_ENST00000379743.4_Missense_Mutation_p.G342R|POSTN_ENST00000541179.1_Missense_Mutation_p.G342R|POSTN_ENST00000379742.4_Missense_Mutation_p.G342R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	342	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTTTGATTCCATTTACTGTT	0.378000													4	69					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043798	20043798	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20043798C>T	ENST00000570682.1	-	2	621	c.321G>A	c.(319-321)ctG>ctA	p.L107L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	107						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGAGAATTCCAGCACTTCTA	0.463000													35	48					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253397	58253397	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:58253397G>A	ENST00000249750.4	-	11	2114	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	ALDH1A2_ENST00000537372.1_Silent_p.V428V|ALDH1A2_ENST00000347587.3_Silent_p.V411V|ALDH1A2_ENST00000559517.1_Silent_p.V353V|ALDH1A2_ENST00000558231.1_Silent_p.V420V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	449					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CATTAGTAAAGACAGCTGCTA	0.428000													15	46					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326847	142326847	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142326847G>A	ENST00000390393.3	+	0	353																											TTTGAACCACGATGCCATGTA	0.473000													56	309					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492876	228492876	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228492876G>A	ENST00000570156.2	+	54	14393	c.14319G>A	c.(14317-14319)ggG>ggA	p.G4773G	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.G1450G|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3816					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGAAGGGGCCACGGCTA	0.572000													57	68					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073365	76073365	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76073365G>A	ENST00000395215.3	+	0	558																											TCAAGAATTGGAGCGGGCTCT	0.572000													7	112					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885820	144885820	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144885820G>A	ENST00000356994.2	-	23	3417	c.3411C>T	c.(3409-3411)tcC>tcT	p.S1137S	SCRIB_ENST00000377533.3_Silent_p.S1056S|SCRIB_ENST00000320476.3_Silent_p.S1137S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1137	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCTCACCTTGGAGATGAAGA	0.716000													4	12					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365316	35365316	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:35365316G>A	ENST00000373347.1	-	5	1608	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P447L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	447					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGAGCTCCGGGGGTGGATCCG	0.587000													7	164					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96100940	96100940	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:96100940C>T	ENST00000395813.1	+	26	2134	c.1948C>T	c.(1948-1950)Ctc>Ttc	p.L650F	CAST_ENST00000515663.1_Missense_Mutation_p.L290F|CAST_ENST00000508579.1_Missense_Mutation_p.L282F|CAST_ENST00000359176.4_Missense_Mutation_p.L631F|CAST_ENST00000341926.3_Missense_Mutation_p.L567F|CAST_ENST00000309190.5_Missense_Mutation_p.L545F|CAST_ENST00000511049.1_Missense_Mutation_p.L552F|CAST_ENST00000325674.7_Missense_Mutation_p.L615F|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.L554F|CAST_ENST00000509903.1_Missense_Mutation_p.L532F|CAST_ENST00000510756.1_Missense_Mutation_p.L628F|CAST_ENST00000508830.1_Missense_Mutation_p.L650F|CAST_ENST00000395812.2_Missense_Mutation_p.L609F|CAST_ENST00000511782.1_Missense_Mutation_p.L553F|CAST_ENST00000508608.1_Missense_Mutation_p.L613F|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000504465.1_Missense_Mutation_p.L495F			P20810	ICAL_HUMAN	calpastatin	567							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	p.L545I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGACAAAGACCTCGATGATGC	0.403000													57	131					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53875903	53875903	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53875903G>A	ENST00000267079.2	-	14	2528	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	MAP3K12_ENST00000547488.1_Missense_Mutation_p.S801F|MAP3K12_ENST00000547035.1_Missense_Mutation_p.S801F	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	768					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCACTGGGGGAAGGTTCACT	0.557000											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	131					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107507	31107507	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31107507A>G	ENST00000259881.9	+	6	546	c.257A>G	c.(256-258)gAt>gGt	p.D86G	PSORS1C1_ENST00000547221.1_Missense_Mutation_p.D38G|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.D23G	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	86										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						ACACAGGAGGATATCCTGGTT	0.557000													47	113					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446429	169446429	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169446429G>T	ENST00000236137.5	-	2	1007	c.771C>A	c.(769-771)atC>atA	p.I257I	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	257					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TATTTAGAGGGATTTTTGACT	0.488000													102	133					9.98717e-52	1.01134e-51	1	1	0
KCNIP1	30820	broad.mit.edu	37	5	170148880	170148880	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:170148880C>T	ENST00000328939.4	+	4	837	c.300C>T	c.(298-300)acC>acT	p.T100T	KCNIP1_ENST00000520740.1_Silent_p.T72T|KCNIP1_ENST00000377360.4_Silent_p.T109T|KCNIP1_ENST00000390656.4_Silent_p.T100T|KCNIP1_ENST00000411494.1_Silent_p.T111T|KCNIP1_ENST00000434108.1_Silent_p.T125T	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	111	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCGACACCACTCAGACAG	0.547000													46	118					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004594	145004594	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145004594G>A	ENST00000322810.4	-	20	2995	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G	PLEC_ENST00000356346.3_Silent_p.G791G|PLEC_ENST00000354589.3_Silent_p.G805G|PLEC_ENST00000398774.2_Silent_p.G773G|PLEC_ENST00000527096.1_Silent_p.G828G|PLEC_ENST00000436759.2_Silent_p.G832G|PLEC_ENST00000354958.2_Silent_p.G783G|PLEC_ENST00000345136.3_Silent_p.G805G|PLEC_ENST00000357649.2_Silent_p.G809G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	942	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCAGGCGGCCCCGCATGG	0.711000													9	8					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964063	111964063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111964063C>T	ENST00000369732.3	-	8	793	c.738G>A	c.(736-738)tgG>tgA	p.W246*	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	246					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAAGCTTTCTCCAATAATTCA	0.522000													25	62					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955557	40955557	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40955557C>T	ENST00000313164.9	+	10	1521	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	388	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CATATCTGGCCTTAGTTACCT	0.438000													6	212					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371684	126371684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126371684G>A	ENST00000394329.3	+	9	9526	c.9513G>A	c.(9511-9513)tgG>tgA	p.W3171*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.W1469*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3171	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGGAGGATGGGTTGCAAGAA	0.393000													8	110					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122135	50122135	+	Silent	SNP	G	G	A	rs143949072	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50122135G>A	ENST00000374160.3	-	1	142	c.66C>T	c.(64-66)atC>atT	p.I22I	LRRC18_ENST00000298124.3_Silent_p.I22I|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	22						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTGATTTTGATGCAATTCC	0.463000													27	59					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124029998	124029998	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:124029998C>T	ENST00000422452.2	-	2	373	c.310G>A	c.(310-312)Gga>Aga	p.G104R	TENM1_ENST00000371130.3_Missense_Mutation_p.G104R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACATCAGATCCCATCTCTAGC	0.488000													95	56					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782294	10782294	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:10782294C>T	ENST00000416569.2	-	2	837	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	271						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGCTGGTGTTCCTTCCGCCGC	0.587000													45	108					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196699017	196699017	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196699017C>T	ENST00000312428.6	-	48	9113	c.9013G>A	c.(9013-9015)Gaa>Aaa	p.E3005K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3005	AAA 5 (By similarity).				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						TTGGCTTTTTCCATGTTCTTG	0.408000													33	68					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31123748	31123748	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:31123748C>A	ENST00000597505.1	-	13	1958	c.1959G>T	c.(1957-1959)ttG>ttT	p.L653F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATGGTTCTCCAAGTCCACCT	0.343000													5	8					1	1	1	1	0
AKNA	80709	broad.mit.edu	37	9	117118409	117118409	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117118409C>T	ENST00000307564.4	-	14	3015	c.2854G>A	c.(2854-2856)Gga>Aga	p.G952R	AKNA_ENST00000223791.3_Missense_Mutation_p.G412R|AKNA_ENST00000374088.3_Missense_Mutation_p.G952R|AKNA_ENST00000374075.5_Missense_Mutation_p.G871R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTAATGTTCCTGCTGTGCTG	0.597000													34	70					0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28550164	28550164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28550164G>A	ENST00000324873.6	-	1	331	c.65C>T	c.(64-66)tCc>tTc	p.S22F	NUPR1_ENST00000395641.2_Missense_Mutation_p.S22F	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	22					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						ATCCAGGCTGGAGTCCTCGTC	0.622000													28	56					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846951	123846951	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123846951G>A	ENST00000369005.1	+	4	5276	c.4936G>A	c.(4936-4938)Gcc>Acc	p.A1646T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1646T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1646T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1646T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1646T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1646						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTGCCTGAGGCCAACAGTGA	0.592000													24	63					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90449089	90449089	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:90449089C>T	ENST00000405460.2	+	89	18772	c.18676C>T	c.(18676-18678)Cct>Tct	p.P6226S	GPR98_ENST00000425867.2_Missense_Mutation_p.P1887S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6226					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TCAGGCCAGCCCTGATTTAAA	0.512000													8	15					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39876223	39876223	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:39876223G>A	ENST00000260356.5	+	5	903	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	246					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAACAACGTGGTGAATGGTT	0.483000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	38					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78938019	78938019	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78938019C>T	ENST00000545128.1	+	31	4611	c.4073C>T	c.(4072-4074)cCc>cTc	p.P1358L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	623					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	extracellular space|Golgi lumen|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						CAGTCCTGTCCCCGTGGCTTC	0.582000													9	23					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15673196	15673196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:15673196G>A	ENST00000281171.4	+	10	2171	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	PTPRO_ENST00000348962.2_Missense_Mutation_p.G614E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	614						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGACGTGGGGAGATCCAGAA	0.483000													57	94					0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15091429	15091429	+	Missense_Mutation	SNP	G	G	A	rs141046253		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:15091429G>A	ENST00000266397.2	-	1	587	c.14C>T	c.(13-15)cCg>cTg	p.P5L		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	5						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						GAACCTGGACGGGGCAGCTTC	0.522000													9	23					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194346659	194346659	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:194346659G>A	ENST00000392432.2	-	3	530	c.325C>T	c.(325-327)Cca>Tca	p.P109S	TMEM44_ENST00000381975.3_Missense_Mutation_p.P109S|TMEM44_ENST00000347147.4_Missense_Mutation_p.P109S|TMEM44_ENST00000330115.3_Missense_Mutation_p.P6S|TMEM44_ENST00000273580.7_Missense_Mutation_p.P109S|TMEM44_ENST00000473092.1_Missense_Mutation_p.P109S	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	109						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CCACAGACTGGGAAGAGAATG	0.453000													53	120					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805816	70805816	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:70805816C>T	ENST00000358731.4	+	17	3160	c.2897C>T	c.(2896-2898)cCa>cTa	p.P966L	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	966	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGAGTTCCCCAAGGGAGAAG	0.448000													43	104					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134158	91134158	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:91134158G>C	ENST00000373094.1	+	2	3764	c.2919G>C	c.(2917-2919)gtG>gtC	p.V973V	PCDH11X_ENST00000361724.1_Silent_p.V973V|PCDH11X_ENST00000373088.1_Silent_p.V973V|PCDH11X_ENST00000373097.1_Silent_p.V973V|PCDH11X_ENST00000395337.2_Silent_p.V973V|PCDH11X_ENST00000361655.2_Silent_p.V973V|PCDH11X_ENST00000298274.8_Silent_p.V973V|PCDH11X_ENST00000406881.1_Silent_p.V973V|PCDH11X_ENST00000504220.1_Silent_p.V973V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	973					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACCTTTGTGGCCTGTGACT	0.512000													17	143					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293484	145293484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145293484C>T	ENST00000342960.5	+	1	114	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Nonsense_Mutation_p.Q27*	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	27										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTGCGCCCCCAGCTGGCAGA	0.493000													103	1232					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3202097	3202097	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:3202097G>A	ENST00000380989.2	-	9	988	c.950C>T	c.(949-951)tCa>tTa	p.S317L	PITRM1_ENST00000451104.2_Missense_Mutation_p.S285L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.S317L|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	285					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						TGTAGCAAATGAATCCGGGCC	0.438000													6	13					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059495	152059495	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152059495G>A	ENST00000368806.1	-	3	727	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	221							calcium ion binding	p.P221P(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCTCTGTGGGACTGCTGG	0.448000													54	70					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471138	31471138	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31471138C>T	ENST00000457010.2	+	1	994	c.293C>T	c.(292-294)tCg>tTg	p.S98L	ARMC5_ENST00000563544.1_Missense_Mutation_p.S98L|ARMC5_ENST00000538189.1_Missense_Mutation_p.S130L|ARMC5_ENST00000268314.4_Missense_Mutation_p.S98L|ARMC5_ENST00000408912.3_Missense_Mutation_p.S193L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	98							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGGCCGCGTCGGGAGCTTCT	0.771000													6	20					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798199	14798199	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14798199C>A	ENST00000261170.3	-	16	1897	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	587	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTTAAACTCCCAATCCATGA	0.318000													26	93					1.16021e-09	1.16665e-09	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19217452	19217452	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19217452G>A	ENST00000263200.10	-	11	1763	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S564F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S564F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	564	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAATAAGAAGGAAGTACACTG	0.428000			T	?	ALCL								5	27					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322643	55322643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55322643G>A	ENST00000314644.2	+	1	861	c.861G>A	c.(859-861)tgG>tgA	p.W287*		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGGGCGCTGGAAAGCTCTCT	0.443000										HNSCC(20;0.049)			70	147					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23656802	23656802	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23656802C>T	ENST00000305877.8	+	22	4378	c.3627C>T	c.(3625-3627)ccC>ccT	p.P1209P	BCR_ENST00000359540.3_Silent_p.P1165P|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1209	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TCTTTGGCCCCACGCTGCTCC	0.607000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								6	75					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351323	124351323	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124351323C>T	ENST00000360013.3	+	35	5360	c.5233C>T	c.(5233-5235)Ctg>Ttg	p.L1745L	KALRN_ENST00000428018.2_Silent_p.L48L|KALRN_ENST00000393496.1_Silent_p.L118L|KALRN_ENST00000291478.4_Silent_p.L48L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1745					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGTGGCCAACCTGCAGGCCCA	0.582000													26	86					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528638	20528638	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20528638G>A	ENST00000315683.1	+	1	435	c.435G>A	c.(433-435)gcG>gcA	p.A145A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCGATACTTTCAT	0.388000													50	105					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124579	15124579	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15124579C>T	ENST00000292574.3	+	2	748	c.666C>T	c.(664-666)gtC>gtT	p.V222V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	222					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AATCAGAGGTCCTACTCAAGG	0.507000													12	30					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510351	120510351	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:120510351C>T	ENST00000397558.2	+	6	1126	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	CCDC64_ENST00000257583.4_Missense_Mutation_p.R25C|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	376					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAGGTTCGCTATCTGTG	0.522000													51	96					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47351148	47351148	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47351148G>A	ENST00000396220.1	-	4	476	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	PREX1_ENST00000371941.3_Missense_Mutation_p.H152Y			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	152	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTTTCTCATGGTTGCTGCAA	0.572000													70	156					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33395104	33395104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33395104G>A	ENST00000539936.1	-	3	354	c.116C>T	c.(115-117)gCc>gTc	p.A39V	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	39					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CATGAACTCGGCCAGGAACTC	0.582000													5	109					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380909	147380909	+	Missense_Mutation	SNP	C	C	T	rs45619342		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:147380909C>T	ENST00000240986.4	+	2	880	c.827C>T	c.(826-828)tCc>tTc	p.S276F	GJA8_ENST00000369235.1_Missense_Mutation_p.S276F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	276					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAAATCGTTTCCCACTATTTC	0.542000													66	91					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031950	26031950	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26031950G>A	ENST00000244661.2	-	1	338	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	113					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCTTAGCATGGATGGCGCAAA	0.517000													43	144					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64414640	64414640	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:64414640C>T	ENST00000395251.1	+	3	410	c.76C>T	c.(76-78)Cct>Tct	p.P26S	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	26										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)					agataaaaatccttgcctgca	0.443000													48	121					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670649	3670649	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3670649G>A	ENST00000344754.4	-	18	4853	c.4854C>T	c.(4852-4854)gtC>gtT	p.V1618V	SIGLEC1_ENST00000202578.4_Silent_p.V1618V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1618	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.V1618V(1)		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						CAGAGCCCAGGACATTTGAGG	0.607000													9	18					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255251	70255251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:70255251G>A	ENST00000342771.4	+	19	3370	c.3049G>A	c.(3049-3051)Ggg>Agg	p.G1017R	AUTS2_ENST00000406775.2_Missense_Mutation_p.G993R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1017										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTGCACCCGGGGCCCCTGGC	0.677000													37	41					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62382162	62382162	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62382162G>A	ENST00000278833.3	+	3	1448	c.907G>A	c.(907-909)Gga>Aga	p.G303R	ROM1_ENST00000534093.1_Silent_p.R93R	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	303					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CATTGATGCGGGAGGAGAGAC	0.597000													35	97					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152203369	152203369	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:152203369G>A	ENST00000455694.2	+	3	287	c.285G>A	c.(283-285)gtG>gtA	p.V95V	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	95	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GGAAACGTGTGAAGTACTACG	0.463000													93	231					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69773225	69773225	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69773225G>A	ENST00000395889.2	-	28	2530	c.2375C>T	c.(2374-2376)gCt>gTt	p.A792V	TEX11_ENST00000374333.2_Missense_Mutation_p.A777V|TEX11_ENST00000374320.2_Missense_Mutation_p.A467V|TEX11_ENST00000344304.3_Missense_Mutation_p.A792V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	792							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCCTTGAGAGCAATCAAAGG	0.363000													19	19					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436557	27436557	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:27436557G>A	ENST00000295736.5	-	19	2796	c.2726C>T	c.(2725-2727)cCt>cTt	p.P909L	SLC4A7_ENST00000428386.1_Missense_Mutation_p.P785L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P918L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P901L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P459L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P794L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P905L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P905L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	909						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGTCCACCAAGGATTATCTCC	0.368000													26	50					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108819266	108819266	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108819266T>C	ENST00000232603.5	-	5	394	c.312A>G	c.(310-312)aaA>aaG	p.K104K	MORC1_ENST00000483760.1_Silent_p.K104K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	104					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						ATTCTCACCTTTTAAGACCAT	0.358000													43	97					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750128	14750128	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14750128C>T	ENST00000380881.4	-	31	6372	c.5557G>A	c.(5557-5559)Gga>Aga	p.G1853R	FREM1_ENST00000422223.2_Missense_Mutation_p.G1852R|FREM1_ENST00000380894.1_Missense_Mutation_p.G388R|FREM1_ENST00000380880.3_Missense_Mutation_p.G1852R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1852					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAATACCTCCTTTTGAGTCC	0.433000													53	51					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122677343	122677343	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122677343G>A	ENST00000339777.4	+	7	1169	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E196K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	381	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ATCTCCTGAAGAGGTCGTGGA	0.512000													44	87					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552353	21552353	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:21552353C>T	ENST00000281523.2	-	4	957	c.439_splice	c.e4+1	p.D147_splice	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	147	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTGCTTAACCTGTTTTGTCA	0.448000													30	91					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351114	35351114	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:35351114G>T	ENST00000373347.1	-	7	2147	c.1879C>A	c.(1879-1881)Cgg>Agg	p.R627R	DLGAP3_ENST00000235180.4_Silent_p.R627R			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	627					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TTCCGCTGCCGCGCCAGGCTC	0.716000													15	37					1.55795e-14	1.57021e-14	1	1	0
SNX9	51429	broad.mit.edu	37	6	158330810	158330810	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:158330810G>A	ENST00000392185.3	+	8	990	c.819G>A	c.(817-819)caG>caA	p.Q273Q		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	273	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TCGAATATCAGCTAACACCTA	0.413000													4	156					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588309	39588309	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:39588309G>A	ENST00000352251.3	-	11	1913	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	PROSER1_ENST00000350125.3_Silent_p.S338S|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	360	Pro-rich.																CAGAAAAAATGGAAGGAACAG	0.532000													35	62					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195293	59195293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:59195293C>T	ENST00000262717.4	+	7	1509	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	CDH20_ENST00000538374.1_Nonsense_Mutation_p.Q371*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.Q371*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	371	Cadherin 3.		Q -> R (in dbSNP:rs35923922).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGGCCCATTTCAGGACACAAC	0.498000													39	78					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470847	120470847	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:120470847C>T	ENST00000355622.6	+	2	201	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	34					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.P34S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCAGGTGGTTCCTAATATTAC	0.463000													37	90					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651778	7651778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7651778G>A	ENST00000359156.4	-	4	666	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	155					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						TTCCAAATTGGATCCATCTGG	0.408000													20	224					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622229	180622229	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180622229C>T	ENST00000393315.1	-	7	1546	c.849G>A	c.(847-849)caG>caA	p.Q283Q	TRIM7_ENST00000274773.7_Silent_p.Q491Q|TRIM7_ENST00000393319.3_Silent_p.Q309Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.Q283Q|TRIM7_ENST00000422067.2_Silent_p.Q283Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	491						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACACGCGCTCCTGGAAGTTGA	0.642000													14	29					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61566548	61566548	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:61566548A>G	ENST00000398571.2	-	18	2758	c.2682T>C	c.(2680-2682)ttT>ttC	p.F894F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	894					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCTATCTGTAAACCAACATA	0.284000													30	50					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73020240	73020240	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:73020240C>T	ENST00000313375.3	-	6	867	c.820_splice	c.e6+1	p.A274_splice	MLXIPL_ENST00000434326.1_Splice_Site_p.A181_splice|MLXIPL_ENST00000429400.2_Splice_Site_p.A274_splice|MLXIPL_ENST00000414749.2_Splice_Site_p.A274_splice|MLXIPL_ENST00000395189.1_Splice_Site_p.A181_splice|MLXIPL_ENST00000354613.1_Splice_Site_p.A274_splice	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	274					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGACCCTCACCATCCTCAGGC	0.622000													9	18					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001750	98001750	+	Nonsense_Mutation	SNP	G	G	T	rs149978587		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98001750G>T	ENST00000355273.2	+	1	19	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGAGGACATGGAACAGGATAA	0.408000													70	159					1.52808e-22	1.54487e-22	1	1	0
TMEM119	338773	broad.mit.edu	37	12	108985557	108985557	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:108985557C>T	ENST00000392806.3	-	2	771	c.603G>A	c.(601-603)gaG>gaA	p.E201E		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	201						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CGCCCCTGCCCTCCACCATCC	0.692000													37	62					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605815	1605815	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1605815G>A	ENST00000382171.2	-	1	698	c.665C>T	c.(664-666)tCt>tTt	p.S222F	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	222	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CCCCGCGCAAGAGCCACAACT	0.632000													46	71					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274183	35274183	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:35274183G>A	ENST00000356321.4	-	3	1797	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATATAGAAGGAAATACCTTC	0.363000													6	82					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065129	23065129	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23065129G>A	ENST00000246006.4	-	1	1848	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	567					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637000													42	121					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152676112	152676112	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:152676112C>T	ENST00000367255.5	-	67	11210		c.e67-1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGTAGCTCCTGCAGAGAAA	0.517000										HNSCC(10;0.0054)			6	159					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455485	62455485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62455485G>A	ENST00000317449.4	-	2	973	c.496C>T	c.(496-498)Cag>Tag	p.Q166*		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	166	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)	2						CCTCCAGCCTGGGGCACGCGG	0.701000													15	35					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39452366	39452366	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:39452366G>A	ENST00000280481.7	+	22	8983	c.8767G>A	c.(8767-8769)Gct>Act	p.A2923T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2923					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGCACTGGAGCTGATGGCTA	0.423000													59	104					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655110	99655110	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:99655110C>T	ENST00000370597.3	-	11	1733	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G460R|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G460R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	460						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACCTTAGCTCCCCTGGCAAAG	0.622000													34	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430071	179430071	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179430071C>T	ENST00000589042.1	-	326	81012	c.80788G>A	c.(80788-80790)Gaa>Aaa	p.E26930K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17990K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25289K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24362K|TTN_ENST00000460472.2_Missense_Mutation_p.E17865K|TTN_ENST00000342175.6_Missense_Mutation_p.E18057K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25289	Fibronectin type-III 96.						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)			GTAGCTGTTTCTTCAACGTTT	0.393000													58	132					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356632	37356632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:37356632G>A	ENST00000373091.3	-	2	197	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.R61*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	61					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGAAAATCGAAAGGCATGC	0.502000													95	168					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61973514	61973514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61973514G>A	ENST00000329882.8	-	2	162	c.92C>T	c.(91-93)cCc>cTc	p.P31L	CSH1_ENST00000453363.3_Missense_Mutation_p.P31L|CSH1_ENST00000316193.8_Missense_Mutation_p.P31L			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	31					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CCTGGATAAGGGAACGGTTTG	0.602000									Russell-Silver syndrome				4	4					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263943	46263943	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46263943C>T	ENST00000510861.1	-	9	1232	c.1059_splice	c.e9+1	p.K353_splice	GABRA2_ENST00000381620.4_Splice_Site_p.K353_splice|GABRA2_ENST00000507069.1_Splice_Site_p.K353_splice|GABRA2_ENST00000356504.1_Splice_Site_p.K353_splice|GABRA2_ENST00000514090.1_Splice_Site_p.K353_splice|GABRA2_ENST00000540012.1_Splice_Site_p.K298_splice|GABRA2_ENST00000515082.1_Silent_p.K353K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	353					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCACTTACCTTGTCATTTA	0.358000													32	65					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30805971	30805971	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:30805971G>A	ENST00000256079.4	-	18	2342	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	IPO8_ENST00000544829.1_Silent_p.S463S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	668					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACATTTGAGGGGAAATACTGT	0.353000													10	100					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852938	117852938	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117852938C>T	ENST00000350763.4	-	2	771	c.360G>A	c.(358-360)aaG>aaA	p.K120K	TNC_ENST00000542877.1_Silent_p.K120K|TNC_ENST00000537320.1_Silent_p.K120K|TNC_ENST00000341037.4_Silent_p.K120K|TNC_ENST00000345230.3_Silent_p.K120K|TNC_ENST00000423613.2_Silent_p.K120K|TNC_ENST00000535648.1_Silent_p.K120K|TNC_ENST00000340094.3_Silent_p.K120K|TNC_ENST00000346706.3_Silent_p.K120K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	120					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCAGCTCCTTAACATCAG	0.587000													6	470					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6788638	6788638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6788638G>A	ENST00000396795.1	-	2	546	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF384_ENST00000319770.3_Missense_Mutation_p.P17S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P17S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P17S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P17S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P17S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGACTGTGGGGATAGAAGGC	0.433000			T	"""EWSR1, TAF15 """	ALL								15	52					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43241028	43241028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43241028C>T	ENST00000372525.5	+	5	606	c.563C>T	c.(562-564)cCg>cTg	p.P188L	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	188										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCTGCCTCCGTGCACTGAA	0.537000													20	36					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649965	47649965	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47649965C>T	ENST00000398742.2	+	5	1515	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	GPR111_ENST00000507065.1_Missense_Mutation_p.S489L|GPR111_ENST00000296862.1_Missense_Mutation_p.S557L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	557					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTGCCCAAGTCAGTCCTGGTG	0.458000													38	99					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76484392	76484392	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76484392G>A	ENST00000388942.3	+	9	1128	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	284						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCAGGCCCCGCACGTGCTCA	0.721000													5	21					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855683	31855683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31855683C>T	ENST00000395728.3	-	13	1971	c.1972G>A	c.(1972-1974)Gac>Aac	p.D658N	EHMT2_ENST00000375537.4_Missense_Mutation_p.D601N|EHMT2_ENST00000375530.4_Missense_Mutation_p.D567N|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.D624N			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	601					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCAATGGTGTCAGCCAGGGGA	0.682000													40	80					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788579	156788579	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156788579C>T	ENST00000347377.6	+	26	3443	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	CYFIP2_ENST00000435847.2_Silent_p.L703L|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.L808L|CYFIP2_ENST00000377576.3_Silent_p.L1004L|CYFIP2_ENST00000318218.6_Silent_p.L1029L|CYFIP2_ENST00000521420.1_Silent_p.L978L|CYFIP2_ENST00000541131.1_Silent_p.L929L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1029					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCCATCCTCTTCTGCCTCC	0.542000													25	48					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798324	212798324	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212798324G>A	ENST00000294829.3	+	1	536	c.105G>A	c.(103-105)ggG>ggA	p.G35G	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	35										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTACAAGGGGGAGTACGATA	0.483000													56	79					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666155	133666155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133666155G>A	ENST00000310926.4	-	9	1513	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P338S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	414					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AAGAACAAAGGAACACAAAGG	0.498000													6	91					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749488	142749488	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142749488C>T	ENST00000418316.1	+	1	72	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCTTCTCCTCCTTTGGTGAGC	0.507000													102	207					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863742	106863742	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:106863742G>A	ENST00000379987.2	+	8	1258	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	NPNT_ENST00000453617.2_Missense_Mutation_p.E365K|NPNT_ENST00000427316.2_Missense_Mutation_p.E378K|NPNT_ENST00000305572.8_Missense_Mutation_p.E348K|NPNT_ENST00000514622.1_Missense_Mutation_p.E348K|NPNT_ENST00000506666.1_Missense_Mutation_p.E378K	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	348	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TACAACCCCAGAAAGGCCAAC	0.532000													33	95					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678620	38678620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:38678620C>T	ENST00000267377.2	+	3	643	c.26C>T	c.(25-27)tCt>tTt	p.S9F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	9					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ACCGCCTCCTCTCCTTCCTCC	0.756000													4	21					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000433	16000433	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16000433G>A	ENST00000221700.5	-	7	813	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	CYP4F2_ENST00000592328.1_Missense_Mutation_p.L240F|CYP4F2_ENST00000011989.7_Missense_Mutation_p.L91F	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	240					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATATGCAGGAGGATCTCATGG	0.532000													64	133					0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1073463	1073463	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:1073463C>T	ENST00000382968.5	-	8	575	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	RNF212_ENST00000433731.2_Missense_Mutation_p.E160K	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	160							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		AGATCAACTTCCATCGACTCC	0.443000													27	59					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2955286	2955286	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:2955286G>A	ENST00000416614.2	-	5	764	c.699C>T	c.(697-699)tcC>tcT	p.S233S	NOP14_ENST00000502735.1_Silent_p.S233S|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.S233S|NOP14_ENST00000314262.6_Silent_p.S233S			P78316	NOP14_HUMAN	NOP14 nucleolar protein	233					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GAGTTTTGTGGGACAGGAGAG	0.483000													9	336					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171092559	171092559	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171092559C>T	ENST00000334231.6	+	7	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F	MYO3B_ENST00000408978.4_Missense_Mutation_p.S221F|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S221F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	221	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACGTCTGGTCCTTGGGGATC	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	115					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49745228	49745228	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49745228C>T	ENST00000549441.2	+	4	2173	c.969C>T	c.(967-969)atC>atT	p.I323I	DNAJC22_ENST00000395069.3_Silent_p.I323I			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	323	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TCCTGGAGATCCAGGCTGCGT	0.552000													8	54					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67306281	67306281	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:67306281C>T	ENST00000371026.3	-	9	1420	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	WDR78_ENST00000431318.1_Silent_p.K201K|WDR78_ENST00000371023.3_Silent_p.K455K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	455	Glu-rich.									NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTTCCTCCTCCTTCTTAGATT	0.383000													10	109					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164769010	164769010	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:164769010G>A	ENST00000420696.2	+	4	773	c.585G>A	c.(583-585)aaG>aaA	p.K195K	PBX1_ENST00000559240.1_Silent_p.K195K|PBX1_ENST00000540236.1_Silent_p.K195K|PBX1_ENST00000540246.1_Silent_p.K90K|PBX1_ENST00000367897.1_Silent_p.K195K|PBX1_ENST00000401534.1_Silent_p.K195K|PBX1_ENST00000560641.1_Silent_p.K90K	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	195					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCTCCCCAAAGGAGATTGAGC	0.582000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								8	99					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10353906	10353906	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10353906C>T	ENST00000255381.2	-	30	4155	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1349					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TCATACTGTTCCCGCAGCAGG	0.547000													61	86					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42393372	42393372	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42393372G>A	ENST00000379310.3	-	15	1919	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	VWA8_ENST00000281496.6_Silent_p.I617I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TAATCACTTGGATTTCTTCAC	0.383000													18	45					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:61180412C>T	ENST00000216513.4	-	3	2118	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	687						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473000													25	35					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894199	133894199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133894199G>A	ENST00000220616.4	+	6	770	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	TG_ENST00000377869.1_Missense_Mutation_p.E244K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	244	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAGGGCGGGAACTGGCTGA	0.517000													6	88					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52345561	52345561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52345561C>T	ENST00000257963.4	+	1	111	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ACVR1B_ENST00000426655.2_Missense_Mutation_p.P12S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P12S|ACVR1B_ENST00000541224.1_Missense_Mutation_p.P12S	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	12					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTCCTTCTTCCCCCTTGTTGT	0.796000													4	17					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672794	77672794	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:77672794G>C	ENST00000407578.2	-	56	8761	c.8495C>G	c.(8494-8496)tCt>tGt	p.S2832C	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2794C|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S317C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2794C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CGATGGGCTAGACCTATTGGC	0.493000													5	69					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151169478	151169478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:151169478C>T	ENST00000296550.7	+	14	2651	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	DCLK2_ENST00000506325.1_Nonsense_Mutation_p.Q632*|DCLK2_ENST00000302176.8_Nonsense_Mutation_p.Q650*	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	633	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAAATGCTTCAGGTAAATGT	0.458000													9	103					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283794	101283794	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:101283794C>T	ENST00000309922.6	+	2	323	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GAGTACACCCCCTTCTGAAGA	0.368000													34	148					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993429	73993429	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:73993429C>T	ENST00000297354.6	-	2	438	c.234G>A	c.(232-234)ggG>ggA	p.G78G	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	78	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										GGCTCCATTCCCCCACGAAGC	0.627000													50	71					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414165	79414165	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79414165C>T	ENST00000307745.7	+	15	3267	c.3267C>T	c.(3265-3267)acC>acT	p.T1089T																								TGCAAACCACCGCCCCGGGGG	0.677000													25	88					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38417658	38417658	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38417658C>T	ENST00000207870.3	+	13	1145	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	XYLB_ENST00000542835.1_Missense_Mutation_p.S215F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	352					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GAGTCTGTATCCCGTTCCTGG	0.562000													106	236					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697982	127697982	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:127697982G>A	ENST00000368695.1	+	11	1117	c.995G>A	c.(994-996)aGg>aAg	p.R332K	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.R338K	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	338						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAAAAGCAGAGGCCAAAGAAG	0.418000													24	55					0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752574	43752574	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43752574C>T	ENST00000372785.3	-	3	266	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	83					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				catcttcatccttgtttcctc	0.537000													18	19					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47673173	47673173	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47673173C>T	ENST00000413379.3	+	6	828	c.726C>T	c.(724-726)ctC>ctT	p.L242L	SAE1_ENST00000392776.3_Silent_p.L242L|SAE1_ENST00000598840.1_Silent_p.L161L|SAE1_ENST00000540850.1_Silent_p.L68L|SAE1_ENST00000270225.7_Silent_p.L242L	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	242					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		ACTACTTTCTCCTTCAAGGTG	0.507000													58	73					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935676	111935676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111935676C>T	ENST00000375741.2	+	17	2229	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P567L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P482L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P639L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P610L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P557L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P404L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	660					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCCGCGCCTCCCCTCCGGCCC	0.672000													6	4					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517879	123517879	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123517879A>T	ENST00000422452.2	-	30	6965	c.6902T>A	c.(6901-6903)cTg>cAg	p.L2301Q	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L2294Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCATAATACAGAGATGTAAT	0.438000													94	46					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568887	114568887	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:114568887A>G	ENST00000375475.5	+	3	351	c.253A>G	c.(253-255)Aag>Gag	p.K85E	NXPE2_ENST00000389586.4_Missense_Mutation_p.K85E					neurexophilin and PC-esterase domain family, member 2																		ACTTAGAATAAAGGACATTAT	0.448000													25	18					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83372355	83372355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:83372355C>T	ENST00000273920.3	+	3	614	c.346C>T	c.(346-348)Cac>Tac	p.H116Y	ENOPH1_ENST00000509635.1_Missense_Mutation_p.H28Y	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	116					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCTGCAGGGCCACATGTGGAG	0.498000													20	43					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672776	77672776	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:77672776C>G	ENST00000407578.2	-	56	8779	c.8513G>C	c.(8512-8514)aGt>aCt	p.S2838T	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2800T|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S323T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2800T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCGTGGAGAACTAGCACCCGA	0.493000													5	84					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139729082	139729082	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:139729082G>C	ENST00000303045.6	-	28	2832	c.2386C>G	c.(2386-2388)Cga>Gga	p.R796G	COL22A1_ENST00000435777.1_Missense_Mutation_p.R796G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	796	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCAGGTCGGCCTGCCAGG	0.383000										HNSCC(7;0.00092)			14	39					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059846	152059846	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152059846C>T	ENST00000368806.1	-	3	376	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	104							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTAGCTTCTCCTTCTCTGGTT	0.413000													7	164					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122717404	122717404	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122717404G>A	ENST00000267199.4	-	12	1664	c.1552C>T	c.(1552-1554)Ctc>Ttc	p.L518F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L479F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	518					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGCCCTGGGAGGATGCGGAGG	0.587000													22	62					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101020665	101020665	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101020665G>A	ENST00000360863.6	-	15	2493	c.2299C>T	c.(2299-2301)Ctt>Ttt	p.L767F	RGS22_ENST00000523287.1_Missense_Mutation_p.L586F|RGS22_ENST00000523437.1_Missense_Mutation_p.L755F|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	767	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGAGGAGAAGGATATATTCC	0.383000													59	113					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383346	61383346	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61383346G>A	ENST00000544088.1	+	0	497				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGAAGAAACGAGGAAAACGA	0.353000													12	17					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532751	31532751	+	Missense_Mutation	SNP	C	C	T	rs112546333		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31532751C>T	ENST00000215885.3	-	6	1486	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	412					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.E412*(1)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TTGGTAACCTCGGGTGGGCTG	0.622000													54	153					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758404	77758404	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:77758404C>T	ENST00000310942.4	+	5	1266	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	388					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAACCCAGCCCCTGGGAAGGG	0.662000													23	50					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:70981484G>A	ENST00000276594.2	-	2	813	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000													51	112					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856370	89856370	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:89856370G>A	ENST00000287908.3	+	3	971	c.578G>A	c.(577-579)gGa>gAa	p.G193E	STEAP2_ENST00000394622.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394621.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394632.1_Missense_Mutation_p.G193E|STEAP2_ENST00000402625.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394629.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394626.1_Missense_Mutation_p.G193E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	193					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTGACTTGGGATCCTTATCA	0.423000													9	246					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406215	67406215	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:67406215G>A	ENST00000382713.5	+	6	804	c.614G>A	c.(613-615)gGa>gAa	p.G205E	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	205	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGTGACACAGGAGAAGGACTA	0.428000													67	118					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675535	3675535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3675535G>A	ENST00000344754.4	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Q907*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	907	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGCCCTCTTGGAGCTCAGGT	0.612000													12	48					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701167	52701167	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52701167C>T	ENST00000370989.1	-	4	298		c.e4-1		GSTA5_ENST00000284562.2_Splice_Site|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAACTCCCATCTTAGAAAGAA	0.383000													51	152					0	0	1	0	0
SPATA25	128497	broad.mit.edu	37	20	44515432	44515432	+	Silent	SNP	C	C	T	rs138752668		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44515432C>T	ENST00000372519.3	-	2	452	c.408G>A	c.(406-408)ccG>ccA	p.P136P		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	136						integral to membrane											CAGAGGGTACCGGTAGAACCC	0.647000													78	135					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81706265	81706265	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:81706265C>T	ENST00000372292.3	-	2	191	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	51	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.D51N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCCGTCCATCGCGACCAGGC	0.607000													35	68					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829083	115829083	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115829083G>A	ENST00000369512.2	-	3	502	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	112					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|Ras protein signal transduction	endosome|Golgi lumen	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)	CTGTTGAAGGGGGCAGCACCA	0.597000													20	29					0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91743052	91743052	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:91743052G>A	ENST00000003100.8	-	10	1622	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.P381L	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	480					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	ATTCACAGTGGGAAAGTATCC	0.348000													44	216					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18208457	18208457	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18208457G>A	ENST00000321105.5	-	5	682	c.468C>T	c.(466-468)atC>atT	p.I156I	TOP3A_ENST00000542570.1_Silent_p.I61I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	156	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.I156I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAAACCCGATGTTTTCGC	0.448000													26	46					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150703564	150703564	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150703564C>T	ENST00000297494.3	+	15	2159	c.1802C>T	c.(1801-1803)cCt>cTt	p.P601L	NOS3_ENST00000461406.1_Missense_Mutation_p.P395L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	601	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACAGCTCCCCTCGGCCGGAA	0.537000													73	267					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935871	151935871	+	Nonsense_Mutation	SNP	C	C	T	rs111493987		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151935871C>T	ENST00000355193.2	-	15	2791	c.2573G>A	c.(2572-2574)tGg>tAg	p.W858*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W858*					lysine (K)-specific methyltransferase 2C																		GTCTGGGGACCAGGAAGGTGG	0.438000													8	248					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27019455	27019455	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:27019455C>T	ENST00000382009.3	+	12	2164	c.1897C>T	c.(1897-1899)Ccg>Tcg	p.P633S	STIM2_ENST00000237364.5_Missense_Mutation_p.P625S|STIM2_ENST00000412829.2_Missense_Mutation_p.P625S|STIM2_ENST00000467087.1_Missense_Mutation_p.P538S|STIM2_ENST00000467011.1_Missense_Mutation_p.P538S|STIM2_ENST00000465503.1_Missense_Mutation_p.P546S	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	538					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGCCCCCCACCCGTCACACCC	0.612000													7	280					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390959	169390959	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169390959C>T	ENST00000545005.1	-	4	1217	c.710G>A	c.(709-711)gGg>gAg	p.G237E	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.G237E|CCDC181_ENST00000367805.3_Missense_Mutation_p.G237E					coiled-coil domain containing 181																		AGGCAAAAACCCCTGACTGGC	0.403000													109	130					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598708	28598708	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28598708C>T	ENST00000434452.1	-	8	1155	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	DSC3_ENST00000360428.4_Missense_Mutation_p.G334E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	334	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCTATCAATCCAAAAAACTG	0.313000													36	66					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26101339	26101339	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26101339G>A	ENST00000313735.6	-	12	1653	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	474					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGAAACACGGGGGTGATGCTC	0.557000													22	37					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125078686	125078686	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:125078686C>T	ENST00000522917.1	+	27	3779	c.3573C>T	c.(3571-3573)tcC>tcT	p.S1191S	FER1L6_ENST00000399018.1_Silent_p.S1191S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1191						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAGCCTTCCCGGAGGTCCA	0.488000													124	239					0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938276	15938276	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:15938276C>T	ENST00000382333.1	-	3	275		c.e3-1		FGFBP1_ENST00000259988.2_Splice_Site	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1						cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GGGCGTTCACCTGTTTGACAA	0.557000													29	49					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882033	1882033	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:1882033C>T	ENST00000518288.1	+	27	3382	c.3219C>T	c.(3217-3219)ctC>ctT	p.L1073L	ARHGEF10_ENST00000349830.3_Silent_p.L1049L|ARHGEF10_ENST00000398564.1_Silent_p.L1074L|ARHGEF10_ENST00000520359.1_Silent_p.L1011L|ARHGEF10_ENST00000262112.6_Silent_p.L1045L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1074					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAAGTCTACTCATGATGGAAG	0.443000													6	128					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338213	122338213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122338213C>T	ENST00000340112.2	-	1	997	c.760G>A	c.(760-762)Gat>Aat	p.D254N	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	254						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ACGCAGCTATCCCCATTTGGA	0.403000													11	283					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24543519	24543519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24543519C>T	ENST00000397016.2	+	6	754	c.443C>T	c.(442-444)tCa>tTa	p.S148L	CPNE6_ENST00000537691.1_Missense_Mutation_p.S203L|CPNE6_ENST00000216775.2_Missense_Mutation_p.S148L			O95741	CPNE6_HUMAN	copine VI (neuronal)	148	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GAGGAGGTATCAGGCACAAAC	0.577000													25	61					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616386	92616386	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92616386G>A	ENST00000298047.6	+	23	12781	c.12764G>A	c.(12763-12765)gGg>gAg	p.G4255E	FAT3_ENST00000409404.2_Missense_Mutation_p.G4255E|FAT3_ENST00000533797.1_Missense_Mutation_p.G590E|FAT3_ENST00000525166.1_Missense_Mutation_p.G4105E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4255					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)				ATCGTGGACGGGCTGGGAGGC	0.667000										TCGA Ovarian(4;0.039)			76	161					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608358	177608358	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:177608358G>A	ENST00000280193.2	-	6	1543	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	376					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTGGTGGTGGAACTTCTTTC	0.368000													14	232					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78383364	78383364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:78383364C>T	ENST00000278550.7	-	31	5969	c.5507G>A	c.(5506-5508)cGa>cAa	p.R1836Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TAGGAGATTTCGGTTGTGAAC	0.502000													31	70					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954374	75954374	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75954374T>C	ENST00000274364.6	+	21	2708	c.2411T>C	c.(2410-2412)gTt>gCt	p.V804A	IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300A|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300A|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306A	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.V804A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAACTAGAGGTTGCACGATTA	0.453000													5	120					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910772	21910772	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:21910772G>A	ENST00000358296.6	-	5	540	c.342C>T	c.(340-342)ccC>ccT	p.P114P	ZNF100_ENST00000305570.6_Silent_p.P50P	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGTCTTGGGGAAAATGAG	0.299000													25	44					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303938	10303938	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10303938C>T	ENST00000403437.2	-	27	3598	c.3504G>A	c.(3502-3504)aaG>aaA	p.K1168K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1168					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						CCTCCCGCTTCTTGTTCAATT	0.592000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				67	159					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350306	79350306	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79350306G>A	ENST00000233735.1	+	6	569	c.466G>A	c.(466-468)Gac>Aac	p.D156N		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	156	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCTTGTGAAGACAAGTTCTC	0.418000													4	71					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160808248	160808248	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160808248C>T	ENST00000368034.4	-	5	1004	c.827G>A	c.(826-828)aGa>aAa	p.R276K	CD244_ENST00000368033.3_Missense_Mutation_p.R281K|CD244_ENST00000322302.7_Missense_Mutation_p.R184K|CD244_ENST00000368032.2_Missense_Mutation_p.R276K|CD244_ENST00000481677.1_5'UTR	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	281					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACGTGATTTCTCCTGGTTTT	0.463000													69	210					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624245	92624245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92624245C>T	ENST00000298047.6	+	27	13753	c.13736C>T	c.(13735-13737)cCc>cTc	p.P4579L	FAT3_ENST00000409404.2_Missense_Mutation_p.P4547L|FAT3_ENST00000533797.1_Missense_Mutation_p.P882L|FAT3_ENST00000525166.1_Missense_Mutation_p.P4429L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4579					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)				CTTCACATTCCCTTTGTGGAG	0.517000										TCGA Ovarian(4;0.039)			15	26					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517406	176517406	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176517406C>T	ENST00000292408.4	+	3	352	c.107C>T	c.(106-108)cCc>cTc	p.P36L	FGFR4_ENST00000393637.1_Missense_Mutation_p.P36L|FGFR4_ENST00000502906.1_Missense_Mutation_p.P36L|FGFR4_ENST00000292410.3_Missense_Mutation_p.P36L|FGFR4_ENST00000393648.2_Missense_Mutation_p.P36L|FGFR4_ENST00000507708.1_3'UTR	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	36	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGCCTGGCTCCCAGCCTGGAG	0.647000										TSP Lung(9;0.080)			4	68					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55571898	55571898	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55571898A>C	ENST00000294383.6	-	41	4800	c.4801T>G	c.(4801-4803)Ttc>Gtc	p.F1601V	USP24_ENST00000407756.1_Missense_Mutation_p.F1441V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1601					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAGCTCGGAAAAGGAAGTCA	0.368000													6	62					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876911	53876911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53876911C>T	ENST00000267079.2	-	12	1802	c.1577G>A	c.(1576-1578)gGg>gAg	p.G526E	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G559E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G559E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	526					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCAGGAAGCCCCACCCCACT	0.597000													24	61					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190781	79190781	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:79190781G>A	ENST00000282003.6	-	6	1173	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	372							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACAGTCACTTGGTTTATTCCC	0.383000													6	101					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221582	59221582	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:59221582G>A	ENST00000262717.4	+	12	2458	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	CDH20_ENST00000538374.1_Missense_Mutation_p.R687Q|CDH20_ENST00000536675.2_Missense_Mutation_p.R687Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	687					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGAACCCCCGGGAGGCGCAG	0.682000													7	131					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46395951	46395951	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46395951G>A	ENST00000454345.1	+	17	2097	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T	DGKZ_ENST00000532868.2_Missense_Mutation_p.A474T|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.A248T|DGKZ_ENST00000318201.8_Missense_Mutation_p.A447T|DGKZ_ENST00000527911.1_Missense_Mutation_p.A470T|DGKZ_ENST00000343674.6_Missense_Mutation_p.A486T|DGKZ_ENST00000421244.2_Missense_Mutation_p.A470T|DGKZ_ENST00000395574.3_Missense_Mutation_p.A436T|DGKZ_ENST00000456247.2_Missense_Mutation_p.A469T	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	658					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACCCAGAGGCCAACCCAGA	0.637000													49	88					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13240916	13240916	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13240916C>T	ENST00000337630.6	-	4	518	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GSG1_ENST00000351606.6_Missense_Mutation_p.R228K|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000432710.2_Missense_Mutation_p.D164N|GSG1_ENST00000396302.3_Missense_Mutation_p.R192K|GSG1_ENST00000324458.8_Missense_Mutation_p.D187N|GSG1_ENST00000457134.2_Intron	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	174						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTAGCAAGTCTGTTAGTAGC	0.522000													58	104					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105965335	105965335	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:105965335T>C	ENST00000278618.4	+	5	941	c.719T>C	c.(718-720)tTt>tCt	p.F240S	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	240					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GAGCACCATTTTGTTGCAGTT	0.289000													12	23					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89311911	89311911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:89311911C>T	ENST00000380265.5	+	4	727	c.544C>T	c.(544-546)Cca>Tca	p.P182S	HERC6_ENST00000264346.7_Missense_Mutation_p.P182S|HERC6_ENST00000273960.3_Missense_Mutation_p.P182S	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	182					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGAGGGGATCCCACTGGCTCA	0.637000													4	73					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331837	100331837	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:100331837G>A	ENST00000341853.1	-	0	2354					NR_003260.1																						TGGAGAGCTGGGAGGCCACGG	0.602000													27	53					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126597	19126597	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19126597G>A	ENST00000381440.3	+	1	1344	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	272						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGCCTGGAGGGGCGCTGTCG	0.647000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	165					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080379	193080379	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193080379C>T	ENST00000342358.4	-	4	549	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	144					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCGCTTCTCCAGGTCGTTCC	0.443000													8	201					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862760	10862760	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:10862760C>T	ENST00000559480.1	+	0	56																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGTGCCCAGTCCCAGGTACAG	0.557000													84	282					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44514959	44514959	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44514959G>A	ENST00000338758.6	+	4	378	c.315G>A	c.(313-315)agG>agA	p.R105R	PARVB_ENST00000406477.3_Silent_p.R138R|PARVB_ENST00000404989.1_Silent_p.R68R|PARVB_ENST00000402876.3_Silent_p.R105R	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	105	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGAGGAGAGGATCATTGTGA	0.587000													4	121					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765202	141765202	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141765202C>T	ENST00000475668.2	+	38	4606	c.4552C>T	c.(4552-4554)Cgc>Tgc	p.R1518C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1518C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1518	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1518S(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTTCTGGCCGCTGGGCAGG	0.612000													7	27					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075557	74075557	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74075557G>A	ENST00000334586.5	+	2	218	c.135G>A	c.(133-135)aaG>aaA	p.K45K	ZACN_ENST00000392503.2_Silent_p.K45K	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	45					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGTCCAAGAAGGTTCAGGAAA	0.522000													32	74					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55322738C>T	ENST00000314644.2	+	1	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)			84	152					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2823423	2823423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2823423C>T	ENST00000602557.1	-	60	9712	c.9157G>A	c.(9157-9159)Gac>Aac	p.D3053N	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3052N|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.D3053N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3053	Sushi 24.					integral to membrane		p.D3052N(1)|p.D2781N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGTGAAGTCGGTCCCAAAC	0.463000													6	16					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37596251	37596251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:37596251G>A	ENST00000475892.1	-	20	1978	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	SUPT20H_ENST00000356185.3_Intron|SUPT20H_ENST00000350612.6_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000464744.1_Intron	NM_001278480.1	NP_001265409.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GTGGAAAGAGGAATGGTTGTT	0.498000													30	46					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43604605	43604605	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:43604605C>T	ENST00000409746.5	-	3	253	c.182G>A	c.(181-183)aGg>aAg	p.R61K	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.R61K	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	61	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CGGCTTCTTCCTAGAGAGGTT	0.468000													9	265					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955864	143955864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143955864C>T	ENST00000292427.4	-	9	1469	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	CYP11B1_ENST00000377675.3_Silent_p.E550E|CYP11B1_ENST00000517471.1_Silent_p.E413E	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	479					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TCTTTATGTCCTCTTGGGTTA	0.552000									Familial Hyperaldosteronism type I				5	129					0	0	1	0	0
C10orf99	387695	broad.mit.edu	37	10	85944436	85944436	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85944436G>A	ENST00000372126.3	+	3	274		c.e3-1		C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99							extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTCCTCCCAGGACATCATGT	0.542000													43	103					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001065	122001065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122001065G>A	ENST00000498619.1	+	6	2182	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	CASR_ENST00000490131.1_Missense_Mutation_p.E572K|CASR_ENST00000296154.5_Missense_Mutation_p.E572K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	572			C -> F (in FHH).|C -> Y (in NSHPT).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCTGATGGGGAGTATAGTGA	0.597000													7	152					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149213244	149213244	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149213244C>T	ENST00000309241.5	+	5	1640	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	PPARGC1B_ENST00000360453.4_Silent_p.L497L|PPARGC1B_ENST00000394320.3_Silent_p.L536L|PPARGC1B_ENST00000403750.1_Silent_p.L472L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	536					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCAGCAGCTCCTACGGGGAC	0.667000													7	22					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961983	70961983	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70961983C>T	ENST00000357250.6	-	27	1958	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	COL9A1_ENST00000370499.4_Missense_Mutation_p.M357I|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.M357I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	600	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGAATTTCCCATCTGACCAG	0.423000													40	83					0	0	1	0	0
YBX3	8531	broad.mit.edu	37	12	10862566	10862566	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10862566G>A	ENST00000228251.4	-	6	921	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3			Y box binding protein 3																		TGTCCCACGTGGTAAGGCGGG	0.597000													23	48					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153847392	153847392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:153847392G>T	ENST00000356448.4	+	4	1437	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.E385*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.E385*	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	385					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAACTACAAGGAAAAGGCCCT	0.368000													15	24					1.52009e-12	1.53101e-12	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17696506	17696506	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:17696506C>T	ENST00000399080.2	-	1	3200	c.3177G>A	c.(3175-3177)caG>caA	p.Q1059Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1059										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGGAACTTCCTGTTCTCCAT	0.348000													29	48					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	104					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4304842	4304842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4304842G>A	ENST00000404826.2	+	45	6607	c.6468G>A	c.(6466-6468)tgG>tgA	p.W2156*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.W2136*|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2156					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAACTCATGGAAGCGCAGGG	0.692000													13	32					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639159	97639159	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:97639159G>A	ENST00000298440.1	-	4	1098	c.855C>T	c.(853-855)atC>atT	p.I285I	OXGR1_ENST00000543457.1_Silent_p.I285I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	285						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I285I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTCTAGAAACGATGTAAGCTT	0.433000													10	86					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17375083	17375083	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17375083C>T	ENST00000252597.3	-	2	199	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	USHBP1_ENST00000431146.2_5'UTR|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	9							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCGCCGGCTTCGGGGCCGCGT	0.637000													21	30					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580543	37580543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:37580543G>A	ENST00000217429.4	+	4	1269	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	380					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCACAGGGACGAGCTCCAGAG	0.577000													30	39					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491655	30491655	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:30491655G>A	ENST00000222823.4	-	6	1903	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	460	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGCGAGCACAGAGTGTCCCGG	0.657000													11	114					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304995	10304995	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10304995C>T	ENST00000403437.2	-	23	2890	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	932					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						TGATCTCTTCCTCCTCCTCAG	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				127	328					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7915279	7915279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:7915279C>T	ENST00000378789.3	-	2	192	c.141G>A	c.(139-141)tgG>tgA	p.W47*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	47	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATACAGCTTCCATCTAGaat	0.348000													15	33					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523411	23523411	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:23523411G>A	ENST00000296682.3	+	9	1076	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCACCAAGGGGAGAAACTGCT	0.438000										HNSCC(3;0.000094)			32	34					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780121	91780121	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:91780121T>A	ENST00000389857.6	-	15	2125	c.2039A>T	c.(2038-2040)aAg>aTg	p.K680M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	680					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTCCAGAGACTTCCTCAGAGT	0.627000													11	23					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52881877	52881877	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52881877C>T	ENST00000330722.6	-	8	1503	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	479	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAACGCCTTCGCCATTCAGC	0.587000													29	73					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516547	195516547	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195516547G>A	ENST00000463781.3	-	2	2363	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S635F|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	640					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCCCTTTGGGAAACAGCTGG	0.507000													82	181					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27473069	27473069	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:27473069A>C	ENST00000295736.5	-	7	913	c.843T>G	c.(841-843)ctT>ctG	p.L281L	SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000454389.1_Silent_p.L290L|SLC4A7_ENST00000446700.1_Silent_p.L273L|SLC4A7_ENST00000425128.2_Silent_p.L273L|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000440156.1_Silent_p.L277L|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Silent_p.L277L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	281						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GATGACCAAGAAGAAGAGATA	0.512000													10	141					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38899718	38899718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38899718G>A	ENST00000359357.3	+	74	11009	c.10755G>A	c.(10753-10755)atG>atA	p.M3585I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M3549I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M3802I|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTTACAATGAAAGGACTTG	0.343000													6	165					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407677	105407677	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105407677A>C	ENST00000333244.5	-	7	14230	c.14111T>G	c.(14110-14112)tTt>tGt	p.F4704C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4704						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCACTTTAAAATGCAGTTT	0.403000													11	75					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591900	100591900	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:100591900A>T	ENST00000268070.4	-	17	2437	c.2332T>A	c.(2332-2334)Tat>Aat	p.Y778N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	778	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTGTATTCATAATGAATTCCA	0.468000													6	310					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068317	122068317	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:122068317C>T	ENST00000454328.1	-	9	849	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	TNIP3_ENST00000057513.3_Missense_Mutation_p.E208K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E285K|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.E278K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	208										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTTCTTCGTATATTTGC	0.368000													73	84					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48387854	48387854	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48387854C>T	ENST00000224600.4	-	1	3137	c.3024G>A	c.(3022-3024)aaG>aaA	p.K1008K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1008	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.K1008N(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAATGCGGTCCTTGGCATTCT	0.597000													51	118					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395136	49395136	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49395136G>A	ENST00000419783.1	-	2	618	c.297C>T	c.(295-297)gtC>gtT	p.V99V	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	99					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCAGGCCGGACGTACTTGA	0.592000													42	101					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30744681	30744681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30744681C>T	ENST00000262518.4	+	28	6593	c.6208C>T	c.(6208-6210)Cga>Tga	p.R2070*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R1912*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R2008*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2070	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R2070R(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGATGACCCGAATGCTGGA	0.522000													42	91					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1158687	1158687	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1158687G>A	ENST00000263741.7	-	4	806	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	SDF4_ENST00000360001.6_Missense_Mutation_p.H172Y|SDF4_ENST00000545427.1_Missense_Mutation_p.H172Y	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	172	EF-hand 2.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TTCTCGCTATGGCCTTTACTC	0.547000													51	70					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263148	232263148	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:232263148G>A	ENST00000287590.5	+	2	979	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	240					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TTTCAAAGGCGACGATGACGT	0.562000													77	94					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73462428	73462428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73462428C>T	ENST00000224721.6	+	23	2730	c.2725C>T	c.(2725-2727)Ccg>Tcg	p.P909S	CDH23_ENST00000299366.7_Missense_Mutation_p.P949S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	904	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAAGGCATCCCGGCGGGGGT	0.557000													44	93					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136873010	136873010	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136873010G>A	ENST00000409817.1	-	1	803	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.P163L	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	163					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.P167H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CAGGAGGGCAGGGATCCAGAC	0.542000													79	173					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10242081	10242081	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10242081C>T	ENST00000256458.4	+	3	396	c.306C>T	c.(304-306)ccC>ccT	p.P102P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	102					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAGGTGTCCCATTCCAGCCT	0.498000													18	223					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400544	40400544	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40400544G>A	ENST00000338305.6	-	2	851	c.309C>T	c.(307-309)cgC>cgT	p.R103R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	103						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)					GATGCAGGGAGCGGAGGCTCT	0.597000													25	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999437	8999437	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8999437C>T	ENST00000397910.4	-	56	40941	c.40738G>A	c.(40738-40740)Gag>Aag	p.E13580K	MUC16_ENST00000380951.5_Missense_Mutation_p.E221K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13582	SEA 10.			Missing (in Ref. 3; AAK74120).	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						GGGCCCAGCTCAGTGATGCTG	0.567000													17	434					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988046	42988046	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42988046G>A	ENST00000252115.5	-	7	1040	c.936C>T	c.(934-936)gtC>gtT	p.V312V	POLDIP3_ENST00000451060.2_Silent_p.V156V|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.V283V|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	312	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCCCAGGATGGACCAGTCGAG	0.542000													53	197					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691430	143691430	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:143691430C>T	ENST00000315691.3	+	1	791	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	86						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGGACTTCCTCAACGTGAA	0.692000													33	92					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064183	70064183	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70064183C>T	ENST00000370598.1	+	27	4339	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	BAI3_ENST00000546190.1_Missense_Mutation_p.S137F|BAI3_ENST00000238918.8_Missense_Mutation_p.S379F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1173	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGCAGATTCTTCGAGTTCG	0.383000													86	51					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132004259	132004259	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:132004259G>A	ENST00000414305.1	+	13	1405	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	ENPP3_ENST00000358229.5_Silent_p.R359R|ENPP3_ENST00000357639.3_Silent_p.R359R			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	359	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TGAAGCAGCGGAATTTGCACA	0.348000													87	54					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917959	26917959	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:26917959C>T	ENST00000539517.2	-	5	1047	c.730G>A	c.(730-732)Gat>Aat	p.D244N	NOVA1_ENST00000267422.7_Missense_Mutation_p.D122N|NOVA1_ENST00000465357.2_Missense_Mutation_p.D220N	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	247					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTTTGTGGATCCTCTTGTATC	0.453000													56	115					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122690945	122690945	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122690945G>A	ENST00000535274.1	+	1	1799	c.72G>A	c.(70-72)ctG>ctA	p.L24L	B3GNT4_ENST00000324189.4_Silent_p.L49L|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Silent_p.L24L			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	49					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TGCTCTTCCTGAGGAAGGCGG	0.657000													9	177					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090139	34090139	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34090139G>A	ENST00000373381.4	-	35	5781	c.5605C>T	c.(5605-5607)Ccc>Tcc	p.P1869S	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P742S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1829	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGCCTTCGGGGACCACGATC	0.647000													36	93					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678864	50678864	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50678864G>A	ENST00000355832.5	-	18	3220	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	ERCC6_ENST00000542458.1_Missense_Mutation_p.H418Y|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1048					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGAACATCATGGTCTGCTCCA	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					69	123					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42166522	42166522	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:42166522C>T	ENST00000520810.1	+	8	857	c.671C>T	c.(670-672)cCc>cTc	p.P224L	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Missense_Mutation_p.P224L|IKBKB_ENST00000520835.1_Missense_Mutation_p.P222L|IKBKB_ENST00000416505.2_Missense_Mutation_p.P165L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	224	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CCCTTCCTCCCCAACTGGCAG	0.627000													92	158					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946462	2946462	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2946462C>T	ENST00000396946.4	-	25	3678	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1092	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGTCTCAGGTCGGGGCAGCAG	0.682000			Mis		DLBCL								21	31					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100698530	100698530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:100698530C>T	ENST00000259456.3	-	3	239	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	32	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTCTCAAACTCCAGGTTCCAA	0.388000													30	94					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147110	55147110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:55147110G>A	ENST00000370862.3	+	7	1529	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	398					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACCAGGGGACGAACTAGCACA	0.468000													21	58					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980835	101980835	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101980835A>T	ENST00000476832.1	-	2	693	c.632T>A	c.(631-633)gTt>gAt	p.V211D	ALG2_ENST00000319033.6_Missense_Mutation_p.V118D	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	211					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TTCAGGAACAACTGAGTCAAA	0.443000													33	67					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812125	56812125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56812125G>A	ENST00000229201.4	-	27	3398	c.3244C>T	c.(3244-3246)Cca>Tca	p.P1082S	TIMELESS_ENST00000553532.1_Missense_Mutation_p.P1083S|TIMELESS_ENST00000554616.1_Missense_Mutation_p.P580S	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1083					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGCTTGGCTGGAATTCGCCAG	0.498000													75	117					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098647	144098647	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:144098647C>T	ENST00000467773.1	-	4	335	c.336G>A	c.(334-336)gaG>gaA	p.E112E	NOBOX_ENST00000223140.5_Silent_p.E27E|NOBOX_ENST00000483238.1_Silent_p.E112E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	112					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCAGTTCCTCCTCCCCGGGTC	0.617000													38	75					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103597437	103597437	+	Silent	SNP	G	G	A	rs149002647		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103597437G>A	ENST00000560869.1	+	7	1887	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	TNFAIP2_ENST00000451723.2_Silent_p.T85T|TNFAIP2_ENST00000333007.1_Silent_p.T416T			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	416					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGCAGCTGACGAATTACAGGG	0.562000													65	131					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982424	75982424	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75982424C>T	ENST00000308508.5	-	3	1074	c.982G>A	c.(982-984)Gat>Aat	p.D328N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	328	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCTGCATCCAGCCCCCCG	0.627000													11	31					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16326061	16326061	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:16326061C>T	ENST00000338560.7	+	4	882	c.483C>T	c.(481-483)taC>taT	p.Y161Y	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	161	Required for interaction with SLC50A1 (By similarity).				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)		ATGACTATTACCGAGGCCACA	0.582000													4	12					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39021101	39021101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39021101C>T	ENST00000251643.4	-	3	787	c.764G>A	c.(763-765)aGc>aAc	p.S255N		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	255	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTCGTTCAGGCTCTCGATCTG	0.587000													66	118					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953963	32953963	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:32953963G>A	ENST00000321639.5	+	3	943	c.615G>A	c.(613-615)atG>atA	p.M205I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	205						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAACCTGATGATCCGCCTGC	0.692000													26	71					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411262	126411262	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126411262G>A	ENST00000394329.3	+	17	13298	c.13285G>A	c.(13285-13287)Gac>Aac	p.D4429N	FAT4_ENST00000335110.5_Missense_Mutation_p.D2670N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4429	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTCCTGGGGACTGTGCCTC	0.612000													42	94					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134162042	134162042	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:134162042G>A	ENST00000389887.5	+	8	3242	c.746G>A	c.(745-747)gGg>gAg	p.G249E	GLB1L3_ENST00000431683.2_Missense_Mutation_p.G249E			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	249					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGAGAAGAGGGATTGTGGAG	0.453000													14	16					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4310097	4310097	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:4310097G>A	ENST00000204517.6	-	6	1144	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	272					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTACCTGCACGATGGTGTCCA	0.582000													37	96					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123903214	123903214	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123903214C>T	ENST00000369005.1	+	7	6167	c.5827C>T	c.(5827-5829)Ctc>Ttc	p.L1943F	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1943F|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000493951.1_3'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1943						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCAAGGACCTCAGCAGGTA	0.622000													34	75					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56897671	56897671	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56897671G>A	ENST00000256857.2	+	3	516	c.418G>A	c.(418-420)Gga>Aga	p.G140R	GRP_ENST00000420468.2_Missense_Mutation_p.G133R|GRP_ENST00000529320.2_Silent_p.K133K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	140					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TCAACGTGAAGGAAGGAACCC	0.428000													31	80					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14581850	14581850	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14581850C>T	ENST00000273083.3	-	0	31							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCACCAACTCCCTCGGGAGCC	0.677000													10	15					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63018551	63018551	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:63018551G>A	ENST00000251157.5	-	22	2651	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	DOCK7_ENST00000340370.5_Missense_Mutation_p.S873L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	873					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|guanyl-nucleotide exchange factor activity|Rac GTPase binding			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						ATAATGCACTGATCCTCCCAA	0.398000													5	88					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187873	94187873	+	Missense_Mutation	SNP	C	C	T	rs141491542		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94187873C>T	ENST00000393140.1	-	5	481	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PRIMA1_ENST00000393143.1_Missense_Mutation_p.E127K|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	127					neurotransmitter catabolic process	cell junction|integral to membrane|synapse		p.E127K(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GTGCCATTTTCGTCTTTTCTC	0.547000													15	43					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38913741	38913741	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38913741G>A	ENST00000302328.3	-	20	3636	c.3438C>T	c.(3436-3438)ttC>ttT	p.F1146F	SCN11A_ENST00000444237.2_Silent_p.F1146F|SCN11A_ENST00000456224.3_Silent_p.F1108F|SCN11A_ENST00000450244.1_Silent_p.F1146F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1146					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)	GTAGAGTCCGGAAGGACTTCA	0.478000													63	133					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038279	34038279	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34038279C>T	ENST00000373381.4	-	50	7765	c.7589G>A	c.(7588-7590)gGg>gAg	p.G2530E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2532	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCAGGAAGCCCACAGGAAAG	0.483000													36	75					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94480187	94480187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:94480187G>A	ENST00000370225.3	-	38	5458	c.5372C>T	c.(5371-5373)gCc>gTc	p.A1791V	ABCA4_ENST00000536513.1_Missense_Mutation_p.A61V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1791					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCCACATAGGCTGTGCTGGG	0.453000													68	178					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161042573	161042573	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161042573C>T	ENST00000368012.3	-	9	1713	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	PVRL4_ENST00000453926.2_Missense_Mutation_p.E180K|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	471					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGATCTTCCTCCTCCTCGGCC	0.567000													44	105					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555702	15555702	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:15555702G>A	ENST00000281513.5	-	25	2930	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	969										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTTCAGGGGAAATTTTAAG	0.358000													35	81					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46393660	46393660	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46393660C>T	ENST00000454345.1	+	11	1556	c.1431C>T	c.(1429-1431)acC>acT	p.T477T	DGKZ_ENST00000532868.2_Silent_p.T293T|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Silent_p.T67T|DGKZ_ENST00000318201.8_Silent_p.T266T|DGKZ_ENST00000527911.1_Silent_p.T289T|DGKZ_ENST00000343674.6_Silent_p.T305T|DGKZ_ENST00000421244.2_Silent_p.T289T|DGKZ_ENST00000395574.3_Silent_p.T255T|DGKZ_ENST00000456247.2_Silent_p.T288T	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	477	Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCAGGCCCACCCCCTCCCCGC	0.632000													12	22					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905486	905486	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:905486C>T	ENST00000579794.1	+	1	377	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.F33F	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	33					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GACTCCGGTTCCCCGGGATCA	0.632000													42	104					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001749	98001749	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98001749G>A	ENST00000355273.2	+	1	18	c.18G>A	c.(16-18)atG>atA	p.M6I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGAGGACATGGAACAGGATA	0.408000													71	158					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32617855	32617855	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32617855C>T	ENST00000286827.3	-	7	2004	c.1533G>A	c.(1531-1533)aaG>aaA	p.K511K	TIAM1_ENST00000541036.1_Silent_p.K511K|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	511	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGACAAAGTCCTTCTTGGGGT	0.547000													19	56					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180875	96180875	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:96180875C>T	ENST00000343702.4	-	2	875	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	NTN4_ENST00000344911.4_Missense_Mutation_p.V106M|NTN4_ENST00000553059.1_Missense_Mutation_p.V143M|NTN4_ENST00000538383.1_Missense_Mutation_p.V106M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	143	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGTCCAGCACCATGGCAGCC	0.493000													27	60					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589763	140589763	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140589763C>A	ENST00000239450.2	+	1	1473	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	PCDHB12_ENST00000541609.1_Silent_p.T91T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		428	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGGGGACCCCCAGGCTAA	0.547000													51	151					2.31418e-15	2.3332e-15	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37464782	37464782	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:37464782C>T	ENST00000299824.1	+	2	403	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Silent_p.L72L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	72					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCGTGGCCCTGCTGGAGGC	0.652000													23	51					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71567843	71567843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:71567843C>T	ENST00000370455.3	+	10	1428	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	SMAP1_ENST00000370452.3_Missense_Mutation_p.P367S|SMAP1_ENST00000316999.5_Missense_Mutation_p.P367S|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	394				P -> H (in Ref. 6; AAH36123).	regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CGTTGTTGGCCCCCAAGGAGG	0.567000													29	67					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584329	42584329	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42584329C>T	ENST00000600245.1	+	2	2226	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	ZNF574_ENST00000222339.7_Missense_Mutation_p.P614L|ZNF574_ENST00000359044.4_Missense_Mutation_p.P524L			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGGCCCTTCCCCTGCCCTGAC	0.622000													146	324					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86602406	86602406	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:86602406C>T	ENST00000320354.4	+	1	1550	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	489					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCCTCTCTATCGCCACGCAGC	0.672000									Late-onset Hereditary Lymphedema				24	16					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11725780G>A	ENST00000262442.3	+	47	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000													66	124					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50306587	50306587	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50306587C>T	ENST00000354293.5	+	18	2464	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	AP2A1_ENST00000359032.5_Silent_p.F788F	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	788					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CGGTGCAGTTCCAGAATTTCT	0.602000													17	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	C	T	rs145828067		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152285860C>T	ENST00000368799.1	-	3	1537	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis				21	753					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799831	31799831	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31799831G>A	ENST00000438447.1	+	2	864	c.476_splice	c.e2+1	p.S159_splice	PDZD2_ENST00000282493.3_Splice_Site_p.S159_splice			O15018	PDZD2_HUMAN	PDZ domain containing 2	159	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTGGGGCCAGGTAAGTAGGG	0.562000													29	72					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42823098	42823098	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:42823098G>A	ENST00000398600.2	+	17	2462	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	MX1_ENST00000288383.6_Missense_Mutation_p.M456I|MX1_ENST00000455164.2_Missense_Mutation_p.M479I|MX1_ENST00000398598.3_Missense_Mutation_p.M479I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	479					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GATTAGATATGGTCCGGCTTG	0.323000													7	294					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438407	120438407	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120438407G>A	ENST00000369400.1	-	1	711	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	185					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTCATAAGGGGCCATCTGC	0.423000													46	71					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799041	212799041	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212799041G>A	ENST00000294829.3	+	1	1253	c.822G>A	c.(820-822)ggG>ggA	p.G274G	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	274										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAACAGGGGGGATTAAAGAGg	0.557000													111	99					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174943	6174943	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6174943G>A	ENST00000264870.3	-	12	1882	c.1617C>T	c.(1615-1617)acC>acT	p.T539T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	539					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTTCCGGAAGGTGATGGAGA	0.488000													40	142					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674976	167674976	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167674976C>T	ENST00000519204.1	+	26	6787	c.6669C>T	c.(6667-6669)acC>acT	p.T2223T	TENM2_ENST00000520394.1_Silent_p.T2105T|TENM2_ENST00000518659.1_Silent_p.T2344T|TENM2_ENST00000545108.1_Silent_p.T2343T|TENM2_ENST00000403607.2_Silent_p.T2168T					teneurin transmembrane protein 2																		CGGAGATTACCTCACTGTACT	0.552000													48	88					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212945	48212945	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48212945C>T	ENST00000316878.6	-	11	2369	c.2367G>A	c.(2365-2367)aaG>aaA	p.K789K	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	789	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCATCTCCTCCTTTCTGGCCA	0.627000													4	15					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616245	92616245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92616245C>T	ENST00000298047.6	+	23	12640	c.12623C>T	c.(12622-12624)cCg>cTg	p.P4208L	FAT3_ENST00000409404.2_Missense_Mutation_p.P4208L|FAT3_ENST00000533797.1_Missense_Mutation_p.P543L|FAT3_ENST00000525166.1_Missense_Mutation_p.P4058L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4208					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)				AATGGCATCCCGTTCCGGAAC	0.652000										TCGA Ovarian(4;0.039)			45	106					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207940957	207940957	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207940957C>G	ENST00000358170.2	+	7	1018	c.862C>G	c.(862-864)Cct>Gct	p.P288A	CD46_ENST00000354848.1_Intron|CD46_ENST00000367042.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.P288A|CD46_ENST00000360212.2_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Missense_Mutation_p.P288A|CD46_ENST00000367047.1_Missense_Mutation_p.P225A	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	288					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CCTAGTGCTGCCTCCATCTAG	0.343000													72	198					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853117	2853117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2853117C>T	ENST00000334241.4	+	4	1192	c.1054C>T	c.(1054-1056)Ctc>Ttc	p.L352F	ZNF555_ENST00000591539.1_Missense_Mutation_p.L351F|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCATTTATCTCCAGTCCTT	0.443000													19	59					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209790	42209790	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42209790C>T	ENST00000255784.5	+	6	632	c.528C>T	c.(526-528)tcC>tcT	p.S176S	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	176						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAAGACTCCAACTTCCAGA	0.542000													41	116					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203430	56203430	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56203430G>A	ENST00000361673.3	-	5	4202	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1330							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAACCCCGGGAAGAAAGACT	0.512000													9	107					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502585	149502585	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149502585C>T	ENST00000378016.2	+	0	8398							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCGCAGTCGTTCCCGACT	0.672000													5	93					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202812	56202812	+	Missense_Mutation	SNP	G	G	A	rs149547104		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56202812G>A	ENST00000361673.3	-	5	4820	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1536							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAAGTGGGGGAAATCAATTC	0.463000													37	71					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352749	113352749	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:113352749T>A	ENST00000458497.1	+	11	2325	c.2046T>A	c.(2044-2046)atT>atA	p.I682I	ALPK1_ENST00000177648.9_Silent_p.I682I|ALPK1_ENST00000504176.2_Silent_p.I604I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	682							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCCAGGCATTTTCTTGGCCC	0.502000													34	71					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35807308	35807308	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35807308C>T	ENST00000440995.2	+	36	5317	c.5317C>T	c.(5317-5319)Cct>Tct	p.P1773S	SPEF2_ENST00000356031.3_Missense_Mutation_p.P1778S|SPEF2_ENST00000303129.4_Missense_Mutation_p.P575S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1778					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAAGCATCCTTTTATTCA	0.388000													78	240					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58373519	58373519	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:58373519C>A	ENST00000435505.2	+	15	1837	c.1092C>A	c.(1090-1092)gtC>gtA	p.V364V	VRK2_ENST00000417641.2_Silent_p.V364V|VRK2_ENST00000440705.2_Silent_p.V341V|VRK2_ENST00000340157.4_Silent_p.V364V|VRK2_ENST00000412104.2_Silent_p.V364V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	364						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAAAAAAAGTCCACAGTGAGA	0.403000													5	85					0.0215528	0.0215711	1	1	0
LPPR1	54886	broad.mit.edu	37	9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104086328G>A	ENST00000374874.3	+	8	1406	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		323						integral to membrane	catalytic activity										GTCCATGACCGAAGTTACCTG	0.418000													13	47					0	0	1	0	0
PFN4	375189	broad.mit.edu	37	2	24344073	24344073	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:24344073C>T	ENST00000313213.4	-	3	586	c.215G>A	c.(214-216)aGa>aAa	p.R72K	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	72					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGACACATCTGTAATCTTT	0.428000													47	154					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36704143	36704143	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:36704143C>T	ENST00000280527.2	+	6	1470	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	368	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ATCTGCTTCACCGCCCAGTGT	0.488000													17	94					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765453	18765453	+	Silent	SNP	C	C	T	rs151116969		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:18765453C>T	ENST00000304081.4	-	5	892	c.792G>A	c.(790-792)agG>agA	p.R264R	NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R|NT5C1B_ENST00000359846.2_Silent_p.R324R	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.R324R(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTAGATTTTCCTGCCGTCCA	0.562000													109	164					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063512	58063512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58063512C>T	ENST00000339762.6	-	1	103	c.104G>A	c.(103-105)tGg>tAg	p.W35*	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTGGCTTCCATACCTCCTG	0.443000													4	56					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001444	95001444	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:95001444G>A	ENST00000357742.4	+	19	2329	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	MCTP2_ENST00000451018.3_Missense_Mutation_p.E722K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	777					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.E777K(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGTCTTGGAGGAAATAGCTTC	0.373000													17	47					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079647	104079647	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104079647G>A	ENST00000374874.3	+	7	1253	c.813_splice	c.e7-1	p.G272_splice	LPPR1_ENST00000395056.2_Splice_Site_p.G272_splice	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		272						integral to membrane	catalytic activity										CATCCTGCAGGGAATGTGTGT	0.517000													58	156					0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357216	82357216	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:82357216A>G	ENST00000256103.2	-	2	218	c.82T>C	c.(82-84)Tta>Cta	p.L28L	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	28						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CTGGTGGCTAACCCCACACCT	0.423000													25	44					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998487	46998487	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46998487G>A	ENST00000599531.1	-	1	1268	c.236C>T	c.(235-237)cCc>cTc	p.P79L	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P79L|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G200R	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	79										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gatctccctgggaatggcagc	0.607000													104	183					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889924	40889924	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40889924C>T	ENST00000291823.2	-	2	872	c.588G>A	c.(586-588)gtG>gtA	p.V196V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	196	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACCACACGTCCACCTTCTCGC	0.622000													6	95					0	0	1	0	0
FAM24B	196792	broad.mit.edu	37	10	124609981	124609981	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124609981A>T	ENST00000368898.3	-	3	341	c.51T>A	c.(49-51)gtT>gtA	p.V17V	CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.V17V|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	17						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		AGAGCACGACAACTATCAGCA	0.453000													35	89					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526100	189526100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189526100C>T	ENST00000264731.3	+	4	453	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	TP63_ENST00000392460.3_Nonsense_Mutation_p.Q122*|TP63_ENST00000418709.2_Nonsense_Mutation_p.Q122*|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Nonsense_Mutation_p.Q28*|TP63_ENST00000456148.1_Nonsense_Mutation_p.Q28*|TP63_ENST00000392463.2_Nonsense_Mutation_p.Q28*|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Nonsense_Mutation_p.Q122*|TP63_ENST00000440651.2_Nonsense_Mutation_p.Q122*|TP63_ENST00000392461.3_Nonsense_Mutation_p.Q28*|TP63_ENST00000354600.5_Nonsense_Mutation_p.Q28*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	122					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCATGGACCAGCAGATTCA	0.587000										HNSCC(45;0.13)			33	126					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849022	131849022	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131849022G>A	ENST00000359827.3	-	24	5341	c.4379C>T	c.(4378-4380)tCc>tTc	p.S1460F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1460F			Q9HCM2	PLXA4_HUMAN	plexin A4	1460						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACAGAACAGGGAGAAGAGGGG	0.592000													17	100					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551777	100551777	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100551777C>T	ENST00000319509.7	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGAGCACGATCGTGTCAACAT	0.473000													148	797					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176561923	176561923	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:176561923C>T	ENST00000280187.7	-	6	644	c.599G>A	c.(598-600)aGg>aAg	p.R200K	GPM6A_ENST00000506894.1_Missense_Mutation_p.R189K|GPM6A_ENST00000393658.2_Missense_Mutation_p.R200K|GPM6A_ENST00000515090.1_Missense_Mutation_p.R193K|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	200						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTCGCACATCCTCAAGAAATT	0.303000													11	49					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91617231	91617231	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91617231G>A	ENST00000375846.3	+	1	5811	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	S1PR3_ENST00000358157.2_Silent_p.Q372Q			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	372					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CAGCACTTCAGAATGGGATCT	0.557000													20	46					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655271	138655271	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:138655271C>T	ENST00000251691.4	+	33	5454	c.5288C>T	c.(5287-5289)tCt>tTt	p.S1763F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1763					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGATACATCTCTATGCAGAAC	0.512000													31	18					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24443553	24443553	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:24443553G>A	ENST00000382172.3	-	7	919	c.821C>T	c.(820-822)cCc>cTc	p.P274L		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	274					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ACCAGCATTGGGATAAAGAAA	0.393000													28	63					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74725130	74725130	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74725130G>A	ENST00000460508.3	-	2	965	c.509C>T	c.(508-510)cCc>cTc	p.P170L	LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.P174L	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCAGAGGCCGGGATCTGGAGC	0.667000													45	64					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254443	18254443	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:18254443C>T	ENST00000377369.2	+	4	848	c.575C>T	c.(574-576)tCt>tTt	p.S192F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S192F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S192F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S58F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	192					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGAAAAAATCTGGAATAGTG	0.388000													43	71					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440184	135440184	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135440184C>T	ENST00000443774.1	-	1	112	c.63G>A	c.(61-63)caG>caA	p.Q21Q	FRG2B_ENST00000425520.1_Silent_p.Q21Q			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	21						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGAAAGGGGGCTGGTCAGTGG	0.507000													10	289					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579376	82579376	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82579376G>A	ENST00000423517.2	-	6	10865	c.10528C>T	c.(10528-10530)Ctt>Ttt	p.L3510F	PCLO_ENST00000333891.8_Missense_Mutation_p.L3510F|PCLO_ENST00000437081.1_Missense_Mutation_p.L230F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3441					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						ACTTTGGAAAGGGGTTTGGTC	0.478000													25	96					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9583865	9583865	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9583865T>A	ENST00000301480.4	-	5	441	c.228A>T	c.(226-228)ggA>ggT	p.G76G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	76	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTTGGAGAACTCCTTGCTGCA	0.388000													8	291					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52905273	52905273	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52905273C>T	ENST00000360465.3	+	4	433	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	ZNF528_ENST00000594530.1_Missense_Mutation_p.L3F|ZNF528_ENST00000598192.1_Missense_Mutation_p.L3F|ZNF528_ENST00000391788.2_5'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGGAATGGCCCTTACTCAGGT	0.413000													32	49					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524500	55524500	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55524500G>A	ENST00000305377.5	+	1	1036	c.948G>A	c.(946-948)agG>agA	p.R316R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACTCTCTGAGGAACAAAGATG	0.343000													42	113					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228557773	228557773	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228557773G>A	ENST00000570156.2	+	102	23043	c.22969G>A	c.(22969-22971)Gct>Act	p.A7657T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4334T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6700T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6700					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTTCATCAAGGCTACGCTGCA	0.677000													55	68					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214204927	214204927	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:214204927G>A	ENST00000413312.1	+	5	730	c.484G>A	c.(484-486)Gat>Aat	p.D162N	SPAG16_ENST00000447990.1_Missense_Mutation_p.D193N|SPAG16_ENST00000331683.5_Missense_Mutation_p.D193N|SPAG16_ENST00000374309.3_Missense_Mutation_p.D99N|SPAG16_ENST00000272898.7_Missense_Mutation_p.D193N|SPAG16_ENST00000414961.2_3'UTR			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	193					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAGAACGTGATTTTCATCG	0.284000													8	49					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56325062	56325062	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:56325062G>A	ENST00000309964.4	-	10	1039	c.789C>T	c.(787-789)atC>atT	p.I263I	CLOCK_ENST00000381322.1_Silent_p.I263I|CLOCK_ENST00000513440.1_Silent_p.I263I	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	263	PAS 2.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AACATACCTTGATGAACTGAG	0.398000													5	31					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113759031	113759031	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113759031G>A	ENST00000552014.1	-	4	794	c.279C>T	c.(277-279)ccC>ccT	p.P93P	SLC24A6_ENST00000546737.1_Silent_p.P93P|SLC24A6_ENST00000202831.3_Silent_p.P93P|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		93					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GGAGGAGGCTGGGAGGGAAGT	0.617000													60	126					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234443	15234443	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:15234443C>T	ENST00000395930.1	-	3	646	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	TEKT3_ENST00000338696.2_Missense_Mutation_p.G154R	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	154					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTCCAAAACCCTATGTCATTG	0.403000													31	81					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171073066	171073066	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171073066C>T	ENST00000367755.4	+	3	384	c.273C>T	c.(271-273)atC>atT	p.I91I	FMO3_ENST00000392085.2_Silent_p.I91I|FMO3_ENST00000542847.1_Silent_p.I71I|FMO3_ENST00000538429.1_Intron	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	91					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGAATATATCATTGCATTTG	0.378000													31	89					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132393334	132393334	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:132393334C>T	ENST00000321867.4	+	6	813	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	154	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCCGCCGCGCCAACCCCAACA	0.716000													20	54					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689777	33689777	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33689777C>T	ENST00000394566.1	-	4	1322	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	SLFN11_ENST00000308377.4_Missense_Mutation_p.M350I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	350						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTCTGTCATCATGCCTACCC	0.483000													30	47					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118042090	118042090	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:118042090C>T	ENST00000356554.3	+	11	2326	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	531					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R531S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTATATCCTCCGTCCAGAAGT	0.463000													22	40					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879800	125879800	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:125879800T>A	ENST00000393434.2	-	2	372	c.23A>T	c.(22-24)cAg>cTg	p.Q8L	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q8L|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q8L|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q18L|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.Q8L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	8	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAACAGGCTCTGTCCAATCAC	0.537000													40	82					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32944687	32944687	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32944687C>T	ENST00000544455.1	+	19	8707	c.8480C>T	c.(8479-8481)cCt>cTt	p.P2827L	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2827L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2827					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAGCATACCCTATACAGGTA	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	86					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41291002	41291002	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:41291002C>T	ENST00000301831.4	-	36	4204	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K	CTNNB1_ENST00000471014.1_Intron|ULK4_ENST00000489118.1_5'UTR	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1248							ATP binding|protein serine/threonine kinase activity	p.E400Q(1)|p.E1248Q(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCCAGCCGCTCCAGAGCCCGC	0.587000													14	33					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805881	54805881	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:54805881G>T	ENST00000306858.7	+	5	2228	c.2112G>T	c.(2110-2112)ctG>ctT	p.L704L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	704										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGATTTGCTGAAAAGTTCTA	0.398000													11	157					4.36969e-10	4.39582e-10	1	1	0
PSG5	5673	broad.mit.edu	37	19	43679376	43679376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43679376C>T	ENST00000404580.1	-	4	1043	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.E319K|PSG5_ENST00000407356.1_Missense_Mutation_p.E319K|PSG5_ENST00000342951.6_Missense_Mutation_p.E319K|PSG5_ENST00000599812.1_Missense_Mutation_p.E412K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	319					female pregnancy	extracellular region		p.E319K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCAGAGACTTCGACTGTCATG	0.453000													104	251					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18016902	18016902	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18016902G>A	ENST00000262608.8	+	9	1156	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	CECR2_ENST00000400573.4_Missense_Mutation_p.E385K|CECR2_ENST00000342247.5_Missense_Mutation_p.E357K|CECR2_ENST00000400585.2_Missense_Mutation_p.E244K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	427					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CATGAGAGAGGAAAAAAAGAC	0.483000													26	113					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351590	134351590	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:134351590C>T	ENST00000357304.4	+	15	4129	c.4074C>T	c.(4072-4074)tcC>tcT	p.S1358S	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1358							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCGCAGGTCCCCTGAGCTCT	0.662000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	23					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111458	55111458	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55111458C>T	ENST00000314721.2	+	1	832	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGACCCGTTTCCAACTTTCCC	0.378000													20	63					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359725	40359725	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40359725C>T	ENST00000338305.6	-	3	2869	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	776						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)					GCCAAAAGTCCCCCGGGCCCC	0.607000													36	119					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406471	3406471	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3406471C>T	ENST00000304936.2	+	1	583	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGAGGGATTCCTCTGCGAGG	0.577000													37	104					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476380	57476380	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57476380C>T	ENST00000371236.2	-	14	1919	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	DAB1_ENST00000414851.2_Silent_p.Q534Q|DAB1_ENST00000420954.2_Silent_p.Q550Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.Q552Q|DAB1_ENST00000439789.2_Silent_p.Q466Q|DAB1_ENST00000371231.1_Silent_p.Q585Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	585					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGCTACCGGCCTGTGGACTTA	0.478000													47	86					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791271	50791271	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:50791271C>T	ENST00000263046.4	+	3	426	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P78L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	78	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P78H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CAGCCGCTCCCCTACCACCAG	0.687000													37	94					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39917833	39917833	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39917833C>T	ENST00000564288.1	+	86	21201	c.20424C>T	c.(20422-20424)ttC>ttT	p.F6808F	MACF1_ENST00000539005.1_Silent_p.F4619F|MACF1_ENST00000567887.1_Silent_p.F6845F|MACF1_ENST00000545844.1_Silent_p.F4749F|MACF1_ENST00000361689.2_Silent_p.F4749F|MACF1_ENST00000372915.3_Silent_p.F6707F|MACF1_ENST00000289893.4_Silent_p.F5251F|MACF1_ENST00000317713.7_Silent_p.F4749F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6815					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGGTTTTCCAGAAGGAAC	0.418000													27	358					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:43826148C>T	ENST00000389420.3	-	21	3054	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000													19	31					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32610244	32610244	+	Missense_Mutation	SNP	C	C	T	rs140524517		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:32610244C>T	ENST00000531120.1	+	3	343	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	94						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.R94C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGTCAAATTTCGCGAAGGTGA	0.403000													73	140					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018205	110018205	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110018205C>T	ENST00000369872.3	+	3	348	c.132C>T	c.(130-132)ctC>ctT	p.L44L	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.L44L	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	44	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCTCTCAGCTCTTTGCTATTT	0.552000													33	76					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122181349	122181349	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:122181349C>T	ENST00000261369.4	+	1	206	c.21C>T	c.(19-21)tcC>tcT	p.S7S	SNX24_ENST00000511211.1_Intron|SNX24_ENST00000513881.1_Silent_p.S7S|SNX24_ENST00000395451.4_Silent_p.S7S|SNX24_ENST00000506996.1_Silent_p.S7S	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	7	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		ACATCCCGTCCTTTCGCTATG	0.766000													12	17					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39081785	39081785	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39081785C>T	ENST00000209718.3	-	7	1387	c.963G>A	c.(961-963)cgG>cgA	p.R321R	KRT23_ENST00000436344.3_Silent_p.R184R|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	321	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGCAGGAGTACCGAGACTGGG	0.458000													17	41					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714488	38714488	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:38714488C>T	ENST00000308742.4	+	3	1211	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	299					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCATTTACTCTCTTTTTTTC	0.348000													70	149					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031521	7031521	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7031521C>T	ENST00000535366.1	+	10	1817	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	ENO2_ENST00000544774.1_Silent_p.A354A|ENO2_ENST00000545045.2_Silent_p.A278A|ENO2_ENST00000538763.1_Silent_p.A354A|ENO2_ENST00000541477.1_Silent_p.A397A|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000229277.1_Silent_p.A397A			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	397					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGACTGGTGCCCCGTGCCGTT	0.552000													9	90					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25342843	25342843	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25342843G>A	ENST00000546682.1	+	0	1229				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA	NR_003361.1																						GATCTCATCGGAATCTGAACA	0.478000													33	79					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110256323	110256323	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110256323G>A	ENST00000369813.1	+	3	1082	c.177G>A	c.(175-177)ttG>ttA	p.L59L	GSTM5_ENST00000256593.3_Silent_p.L100L|GSTM5_ENST00000369812.5_Silent_p.L119L|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	100	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGGACATTTTGGAGAACCAGG	0.527000													20	40					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169997025	169997025	+	Missense_Mutation	SNP	G	G	A	rs80338754		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169997025G>A	ENST00000263816.3	-	72	13424	c.13139C>T	c.(13138-13140)cCa>cTa	p.P4380L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCACCTGCATGGGGGGGGCAG	0.532000													4	79					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47192800	47192800	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47192800G>A	ENST00000433867.1	-	15	2442	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	PRKD2_ENST00000291281.4_Silent_p.I655I|PRKD2_ENST00000601806.1_Silent_p.I498I|PRKD2_ENST00000600194.1_Silent_p.I498I|PRKD2_ENST00000595515.1_Silent_p.I655I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	655	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCACCTGGGTGATGAGGAACT	0.612000													8	14					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828970	76828970	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76828970C>T	ENST00000248598.5	-	1	173	c.141G>A	c.(139-141)ggG>ggA	p.G47G	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	47					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTTCGCATTTCCCTCTGCTTT	0.493000													84	239					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42174385	42174385	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:42174385C>T	ENST00000520810.1	+	11	1274	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.P140L|IKBKB_ENST00000520835.1_Missense_Mutation_p.P361L|IKBKB_ENST00000416505.2_Missense_Mutation_p.P304L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	363					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.P363R(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCGTTGATCCCCGATAAGCCT	0.577000													20	30					0	0	1	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143885443	143885443	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143885443G>A	ENST00000378115.2	-	2	163	c.34C>T	c.(34-36)Cct>Tct	p.P12S	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P12S	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	12										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GAGATGGGAGGAGAGGCTCCA	0.512000													53	130					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58350474	58350474	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58350474C>T	ENST00000442832.4	+	2	354	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ZNF587B_ENST00000594901.1_Silent_p.Y40Y|ZNF587B_ENST00000316462.4_Silent_p.Y39Y|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										GATGCCTGTACCGTGATGTGA	0.488000													31	67					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90754587	90754587	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:90754587C>T	ENST00000354366.3	-	11	3364	c.3132G>A	c.(3130-3132)agG>agA	p.R1044R	NRDE2_ENST00000357904.3_Silent_p.R813R	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CCAGTCTCTTCCTCAGTTTCT	0.493000													39	85					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947765	115947765	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115947765G>A	ENST00000251864.2	+	2	328	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TDRD1_ENST00000369280.1_Missense_Mutation_p.E59K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E59K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E59K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	59					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAAAGCTCAGAGAATGGAAA	0.358000													57	129					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033958	52033958	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52033958C>T	ENST00000346477.3	-	3	751	c.683G>A	c.(682-684)aGa>aAa	p.R228K	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R228K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R217K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R192K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	228	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGGATGGTTCTCTCCATGGT	0.632000													44	130					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682521	7682521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7682521G>A	ENST00000446248.2	+	18	3600	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E1140K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1140	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAAGGTGAACGAACCGCAGAA	0.597000													25	47					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725116	158725116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158725116C>T	ENST00000368144.2	+	1	607	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACTTTGTATCCAGCTGACAGT	0.488000													71	94					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856527	44856527	+	Silent	SNP	C	C	T	rs141676463	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44856527C>T	ENST00000326047.4	+	20	2657	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	KIF15_ENST00000425755.1_Silent_p.S471S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	836					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACAAACTTTCCGAAAGACACA	0.383000													6	118					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39118655	39118655	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:39118655G>A	ENST00000331366.5	-	12	941	c.845C>T	c.(844-846)tCt>tTt	p.S282F	CPNE8_ENST00000360449.3_Missense_Mutation_p.S270F	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	282										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TACTGTTCCAGAATTAGTATA	0.249000													17	63					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89909137	89909137	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:89909137G>A	ENST00000435811.1	-	3	695	c.241C>T	c.(241-243)Cct>Tct	p.P81S	GABRR1_ENST00000454853.2_Missense_Mutation_p.P98S|GABRR1_ENST00000369451.3_Missense_Mutation_p.P11S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	98					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ACACCAACAGGAATGGCAGGG	0.493000													6	67					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377177	2377177	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2377177G>A	ENST00000202625.2	+	4	511	c.450G>A	c.(448-450)gaG>gaA	p.E150E	TGM6_ENST00000381423.1_Silent_p.E150E|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	150					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGCCTCAGAGGAGGAGAGAC	0.617000													41	75					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112364	154112364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154112364C>T	ENST00000368559.3	-	5	702	c.631G>A	c.(631-633)Gag>Aag	p.E211K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E211K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	211						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCTTGTTTCTCCTCTTTTTCC	0.348000													18	569					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332365	70332365	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:70332365T>A	ENST00000373644.4	+	2	479	c.270T>A	c.(268-270)ctT>ctA	p.L90L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	90					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGAGGTTCTTTTTCAGAACC	0.498000													42	77					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52937092	52937092	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52937092G>A	ENST00000354452.3	-	11	1503	c.892C>T	c.(892-894)Cct>Tct	p.P298S	TCF4_ENST00000564228.1_Missense_Mutation_p.P227S|TCF4_ENST00000537856.3_Missense_Mutation_p.P168S|TCF4_ENST00000570177.2_Missense_Mutation_p.P168S|TCF4_ENST00000567880.1_Missense_Mutation_p.P238S|TCF4_ENST00000565018.2_Missense_Mutation_p.P298S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.P304S|TCF4_ENST00000561992.1_Missense_Mutation_p.P168S|TCF4_ENST00000537578.1_Missense_Mutation_p.P274S|TCF4_ENST00000568740.1_Missense_Mutation_p.P273S|TCF4_ENST00000540999.1_Missense_Mutation_p.P274S|TCF4_ENST00000356073.4_Missense_Mutation_p.P298S|TCF4_ENST00000568673.1_Missense_Mutation_p.P274S|TCF4_ENST00000564999.1_Missense_Mutation_p.P298S|TCF4_ENST00000457482.3_Missense_Mutation_p.P138S|TCF4_ENST00000566279.1_Missense_Mutation_p.P238S|TCF4_ENST00000543082.1_Missense_Mutation_p.P256S|TCF4_ENST00000398339.1_Missense_Mutation_p.P400S|TCF4_ENST00000566286.1_Missense_Mutation_p.P296S|TCF4_ENST00000544241.2_Missense_Mutation_p.P227S|TCF4_ENST00000561831.3_Missense_Mutation_p.P138S|TCF4_ENST00000570287.2_Missense_Mutation_p.P138S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	298					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGGCAGGAGGCGTACAGGAA	0.458000													42	64					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924528	70924528	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70924528C>T	ENST00000603540.1	+	2	570	c.312C>T	c.(310-312)ttC>ttT	p.F104F	ADAM21_ENST00000267499.3_Silent_p.F104F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	104					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATCAGCTCTTCATCCCAGATG	0.478000													18	194					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224609	248224609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248224609C>T	ENST00000359959.3	+	1	626	c.626C>T	c.(625-627)cCc>cTc	p.P209L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCGTGTTTCCCTTCATTGCT	0.507000													13	278					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13882852	13882852	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13882852C>T	ENST00000265104.4	-	21	3351	c.3247G>A	c.(3247-3249)Gaa>Aaa	p.E1083K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1083	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTCATTTTCTCCCATTTCA	0.303000									Kartagener syndrome				30	16					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21869173	21869173	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21869173G>A	ENST00000399982.2	-	21	4295	c.4231C>T	c.(4231-4233)Ctg>Ttg	p.L1411L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L1132L|CHD8_ENST00000557364.1_Silent_p.L1411L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1411					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCATCTTTCAGAGTGCTAAAG	0.458000													25	42					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352238	10352238	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10352238C>T	ENST00000255381.2	-	31	4418	c.4308G>A	c.(4306-4308)gtG>gtA	p.V1436V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1436					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TAGATCGTTCCACATCAATCA	0.443000													35	94					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752680	77752680	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:77752680G>A	ENST00000344720.5	+	2	1063	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.E39K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	39					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|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						AGAATACTTGGAAAGTTGTTT	0.363000													40	82					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054043	143054043	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143054043G>A	ENST00000409408.1	-	6	2307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552000													32	94					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505115	47505115	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47505115C>T	ENST00000371901.3	+	8	1234	c.984C>T	c.(982-984)atC>atT	p.I328I	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I327I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	328						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCCTGGATCCTTTACTGCC	0.517000													32	79					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525575	76525575	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76525575C>T	ENST00000389840.5	-	22	3610	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	DNAH17_ENST00000585328.1_Silent_p.E1159E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTGGATCTCCTCTGGCATCT	0.592000													38	170					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452207	2452207	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2452207G>A	ENST00000378466.3	-	4	573	c.561C>T	c.(559-561)ttC>ttT	p.F187F	PANK4_ENST00000435556.3_Silent_p.F148F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	187					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAAGATAGGGGAAAATGTGGG	0.502000													47	77					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26913151	26913151	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26913151G>A	ENST00000321765.5	-	6	1894	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	521					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCAACAGGGATAGGTGAAG	0.438000													40	70					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159259	39159259	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39159259C>T	ENST00000359534.3	-	5	1245	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	303					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.D303Y(1)|p.D303N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGATGAGGTCGTTGTAGGTC	0.627000													168	184					0	0	1	0	0
TMEM33	55161	broad.mit.edu	37	4	41956155	41956155	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41956155T>G	ENST00000504986.1	+	7	1048	c.683T>G	c.(682-684)gTg>gGg	p.V228G	TMEM33_ENST00000325094.5_Missense_Mutation_p.V228G|TMEM33_ENST00000513702.1_Missense_Mutation_p.V228G	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	228						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CCACTGTTTGTGAGAAGACTT	0.353000													53	122					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133055454	133055454	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133055454G>A	ENST00000425515.2	-	2	354	c.282C>T	c.(280-282)taC>taT	p.Y94Y	VNN3_ENST00000414302.2_Silent_p.Y94Y|VNN3_ENST00000427187.2_Silent_p.Y94Y|VNN3_ENST00000392393.3_Silent_p.Y94Y|VNN3_ENST00000450865.2_Silent_p.Y95Y|VNN3_ENST00000207771.3_Silent_p.Y94Y|VNN3_ENST00000519686.2_Silent_p.Y94Y|VNN3_ENST00000392394.2_Silent_p.Y94Y|VNN3_ENST00000367927.5_Silent_p.Y94Y|VNN3_ENST00000423615.2_Silent_p.Y94Y|VNN3_ENST00000509351.1_Silent_p.Y94Y|VNN3_ENST00000275223.3_Silent_p.Y94Y|VNN3_ENST00000417437.2_Silent_p.Y126Y					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTAGATAGGGGTAAATGCTCT	0.428000													49	47					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966467	2966467	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:2966467G>A	ENST00000575751.1	-	1	434	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						AACACAAGGAGAGGAGCAAGA	0.587000													10	25					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178446	38178446	+	Missense_Mutation	SNP	C	C	T	rs141147110		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:38178446C>T	ENST00000407257.1	+	2	235	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.R30C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.R30C|RMDN2_ENST00000417700.2_Intron					regulator of microtubule dynamics 2																		CGCCCAGCATCGTGGAGCCTC	0.433000													37	66					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428170	54428170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54428170C>T	ENST00000566473.2	+	4	241	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	ANKFN1_ENST00000318698.2_Missense_Mutation_p.L81F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	81										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAATTTACATCTCTGTCAGTC	0.408000													35	135					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54887099	54887099	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54887099C>T	ENST00000333896.5	+	31	6729	c.6344C>T	c.(6343-6345)tCc>tTc	p.S2115F	SPTBN1_ENST00000356805.4_Missense_Mutation_p.S2128F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2128					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAACAAGTTTCCCAAAACGGT	0.463000													24	34					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263702	34263702	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:34263702C>T	ENST00000262622.3	+	4	1767	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	CHST8_ENST00000434302.1_Missense_Mutation_p.P337S|CHST8_ENST00000438847.2_Missense_Mutation_p.P337S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	337					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTGCAGCCCCTGCCTCAT	0.612000													24	74					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15838144	15838144	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:15838144G>A	ENST00000378036.1	-	2	1201	c.25C>T	c.(25-27)Cct>Tct	p.P9S	FAM188A_ENST00000277632.3_Missense_Mutation_p.P304S|FAM188A_ENST00000477891.1_5'UTR			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	304					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGTTCTGAAGGAGCTTCAGGG	0.358000													82	156					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532751	84532751	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84532751C>T	ENST00000527857.1	+	0	2773					NR_026851.1																						TTAAAACTTTCCGTATGAGGA	0.433000													16	28					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7731398	7731398	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:7731398C>T	ENST00000507866.2	+	23	3176	c.3067C>T	c.(3067-3069)Cct>Tct	p.P1023S	SORCS2_ENST00000329016.9_Missense_Mutation_p.P851S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1023						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCCTGCCCCCTCCCAGGCC	0.632000													7	20					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006213	94006213	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:94006213C>T	ENST00000282020.4	+	3	570	c.312C>T	c.(310-312)tcC>tcT	p.S104S	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	104					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGCAGGATCCCTCCAGTCTT	0.532000													9	92					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133109096	133109096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133109096G>A	ENST00000321871.6	+	5	1733	c.1523G>A	c.(1522-1524)tGg>tAg	p.W508*	TMEM108_ENST00000508711.1_Nonsense_Mutation_p.W38*|TMEM108_ENST00000393130.3_Nonsense_Mutation_p.W508*	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	508						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGAGCTACTGGAACAACACC	0.527000													151	384					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059056	11059056	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11059056C>T	ENST00000287766.4	+	3	580	c.159C>T	c.(157-159)ttC>ttT	p.F53F	SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	53					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCTTCGACTTCCTCATGTCCT	0.627000													38	98					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136214	134136214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:134136214G>A	ENST00000372271.3	-	2	1214	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	FAM78A_ENST00000372269.3_Missense_Mutation_p.R280W|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	283										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGCTGTCACCGGTGCTTGGGC	0.572000													18	223					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248240	5248240	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5248240C>T	ENST00000380448.1	+	7	703	c.450C>T	c.(448-450)gtC>gtT	p.V150V	AKR1C4_ENST00000263126.1_Silent_p.V150V			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	150					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CTCCCCAGGTCATGGAGAAGT	0.458000													33	73					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969835	118969835	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:118969835G>A	ENST00000328252.3	+	3	1948	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	527	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGTTGGCAGGAGTAGCAAC	0.433000													21	54					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442631	138442631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138442631C>T	ENST00000344876.4	-	4	3346	c.2960G>A	c.(2959-2961)gGa>gAa	p.G987E	PCDH18_ENST00000511115.1_Missense_Mutation_p.G167E|PCDH18_ENST00000510305.1_Missense_Mutation_p.G198E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G766E|PCDH18_ENST00000412923.2_Missense_Mutation_p.G986E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	987	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)					GGAGTCCTTTCCAAAGGTGGA	0.527000													32	85					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95791437G>A	ENST00000260766.3	+	2	1268	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PLCE1_ENST00000371380.2_Missense_Mutation_p.D212N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000													20	66					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48921837	48921837	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48921837G>A	ENST00000310194.1	+	2	1031	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CAACCCCAAGGGGCCTGCGCA	0.667000													8	18					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447835	63447835	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:63447835G>A	ENST00000322893.7	-	6	965	c.697C>T	c.(697-699)Cct>Tct	p.P233S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P233S|KCNH5_ENST00000394968.1_Missense_Mutation_p.P175S|KCNH5_ENST00000394964.2_Missense_Mutation_p.P175S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	233					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.P233S(1)		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)		ACATTATAAGGAACCATAATG	0.373000													6	62					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27741418	27741418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27741418G>A	ENST00000430629.2	-	6	792	c.577C>T	c.(577-579)Cca>Tca	p.P193S	WASF2_ENST00000536657.1_Missense_Mutation_p.P193S	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	193					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		ATTTTACGTGGGTTTACATTC	0.373000													11	132					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800578	185800578	+	Missense_Mutation	SNP	C	C	T	rs147922206		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:185800578C>T	ENST00000302277.6	+	4	1049	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	152						intracellular	zinc ion binding	p.S152F(1)|p.S152Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGAAATTTCCCAACGAGTT	0.368000													39	54					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98916620	98916620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98916620C>T	ENST00000477737.1	+	25	3565	c.3361C>T	c.(3361-3363)Ccc>Tcc	p.P1121S	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1121										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATAGCACTTCCCAATAAGCA	0.408000													70	147					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419000	48419000	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48419000C>T	ENST00000376771.4	+	6	2045	c.1704C>T	c.(1702-1704)acC>acT	p.T568T	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.T314T	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	568						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACCATCCACCCAGGAGGCCT	0.572000													59	29					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150730966	150730966	+	Silent	SNP	C	C	T	rs117793104	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150730966C>T	ENST00000358849.4	+	2	463	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ABCB8_ENST00000297504.6_Silent_p.L141L|ABCB8_ENST00000477719.1_Silent_p.L124L|ABCB8_ENST00000477092.1_Silent_p.L124L|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Silent_p.L124L|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000356058.4_Silent_p.L161L	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	141						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAGTTTCTGCACCCCCA	0.627000													51	115					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975645	70975645	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70975645G>A	ENST00000393567.2	-	43	6897	c.6747C>T	c.(6745-6747)ctC>ctT	p.L2249L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2249										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCAGCAGGCAGAGGAGGGCGG	0.547000													4	98					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344395	121344395	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121344395G>A	ENST00000297848.3	+	41	4945	c.4675G>A	c.(4675-4677)Gat>Aat	p.D1559N	COL14A1_ENST00000309791.4_Missense_Mutation_p.D1559N|COL14A1_ENST00000247781.3_Missense_Mutation_p.D1464N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1559	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCGGGAAAGGATGGATCCTC	0.458000													36	58					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137080421	137080421	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:137080421C>T	ENST00000453654.1	-	32	2550	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.A984T|DGKI_ENST00000424189.2_Missense_Mutation_p.A1015T|DGKI_ENST00000288490.5_Missense_Mutation_p.A1002T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1002					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGGCAGGCAGCCTTGTGCAGT	0.547000													22	135					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11919670	11919670	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:11919670C>T	ENST00000256720.2	+	6	841	c.748C>T	c.(748-750)Cct>Tct	p.P250S	LPIN1_ENST00000425416.2_Missense_Mutation_p.P256S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P292S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P292S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P335S|LPIN1_ENST00000396097.1_5'UTR	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	250					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCTTCAACACCTAAAAGTGA	0.483000											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906548	48906548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48906548G>A	ENST00000508632.1	-	2	251	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.R7C	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	7	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TGGTTTCCACGAGCAGACGCT	0.428000													44	99					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533985	84533985	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84533985G>A	ENST00000527857.1	+	0	4007					NR_026851.1																						AGGGGATGCAGGGCTGGGGAC	0.498000													4	12					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127265635	127265635	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:127265635G>A	ENST00000373588.4	-	2	236	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	14					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CCGCACACGGGGCACAGCTCG	0.711000													8	29					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595260	216595260	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:216595260G>A	ENST00000366943.2	-	2	805	c.419C>T	c.(418-420)cCt>cTt	p.P140L	USH2A_ENST00000307340.3_Missense_Mutation_p.P140L|USH2A_ENST00000366942.3_Missense_Mutation_p.P140L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	140					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTGGAGAAGGAGGAGAAGA	0.413000										HNSCC(13;0.011)			82	93					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295933	10295933	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10295933C>T	ENST00000403437.2	-	38	5588	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1832					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						CGTTTCTGTTCATTTTCAACC	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				86	147					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175431854	175431854	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:175431854G>A	ENST00000392547.2	-	7	1499	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P467L|WIPF1_ENST00000359761.3_Missense_Mutation_p.P467L|WIPF1_ENST00000467149.1_5'UTR|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P467L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P467L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	467					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TTGTACATATGGCTCTGGAGG	0.448000													32	58					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060897	21060897	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21060897C>T	ENST00000261383.3	-	31	4453	c.4454G>A	c.(4453-4455)aGg>aAg	p.R1485K	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1485K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1485	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACCTCGATCCTGTTGAACTC	0.502000													39	75					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38851475	38851475	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38851475G>A	ENST00000409235.3	+	16	1987	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.E584E	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	624					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATGACTTGGAGCGGAAAGGGT	0.567000													7	25					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55401079C>T	ENST00000391723.3	+	4	604	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.L204L|FCAR_ENST00000359272.4_Silent_p.L226L|FCAR_ENST00000391726.3_Silent_p.L130L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000355524.3_Silent_p.L238L	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.L238L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542000													208	407					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003120	176003120	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176003120G>A	ENST00000510636.1	+	12	1402	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V	CDHR2_ENST00000261944.5_Silent_p.V376V|CDHR2_ENST00000506348.1_Silent_p.V376V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	376	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGCTACGTGGACGAGCATG	0.617000													7	109					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884353	228884353	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228884353C>T	ENST00000392056.3	-	7	1263	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R406K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	406						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGAGATAATCTAATAAATGC	0.443000													37	80					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544175	154544175	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154544175C>T	ENST00000368476.3	+	5	1140	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	292					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCACCTCCCTCGACGTGCCGC	0.602000													61	103					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141977	54141977	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:54141977G>A	ENST00000265572.3	-	4	1320	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F341F|OPRK1_ENST00000524278.1_Silent_p.F252F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	341					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGAAGTCCCGGAAACACCGCT	0.493000													36	46					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27695807	27695807	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:27695807G>A	ENST00000438929.1	-	2	165	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	BDNF_ENST00000420794.1_5'UTR|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF-AS_ENST00000499568.2_RNA	NM_001143810.1	NP_001137282.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	0						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GTGCACTCATGGAGAAAACTG	0.428000													4	10					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124048821	124048821	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124048821G>A	ENST00000360013.3	+	8	1519	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	KALRN_ENST00000460856.1_Silent_p.V464V|KALRN_ENST00000240874.3_Silent_p.V464V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	464					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGAGCAGGTGACCCAAGCCT	0.572000													47	95					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928188	6928188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6928188G>A	ENST00000312053.4	+	17	2292	c.2255G>A	c.(2254-2256)tGg>tAg	p.W752*	EMR1_ENST00000381407.5_Nonsense_Mutation_p.W611*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.W575*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.W687*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.W700*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	752					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					GGGTTCATCTGGAGTTTCTTG	0.502000													7	208					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115978283	115978283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115978283C>T	ENST00000251864.2	+	18	2587	c.2434C>T	c.(2434-2436)Cga>Tga	p.R812*	TDRD1_ENST00000369280.1_Nonsense_Mutation_p.R812*|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.R416*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.R812*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	812	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.R812*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGATGAACTCCGAATGATATC	0.358000													38	93					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10935753	10935753	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10935753C>T	ENST00000314646.5	+	18	2078	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	DNM2_ENST00000408974.4_Silent_p.A634A|DNM2_ENST00000585892.1_Silent_p.A638A|DNM2_ENST00000389253.4_Silent_p.A638A|DNM2_ENST00000355667.6_Silent_p.A638A|DNM2_ENST00000359692.6_Silent_p.A634A			P50570	DYN2_HUMAN	dynamin 2	638					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGGATGGGGCCCAGGAGAACA	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL								57	130					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969664	118969664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:118969664G>A	ENST00000515256.1	+	3	393	c.221G>A	c.(220-222)aGa>aAa	p.R74K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	74						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGAATCCAGAGAATACATCGA	0.522000													29	60					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102305732	102305732	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102305732C>T	ENST00000299163.5	+	5	856	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	252	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		ACGAGAGGTTCCCTAATTTCC	0.443000													72	207					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862668	23862668	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23862668C>T	ENST00000405093.3	-	23	3058	c.2988G>A	c.(2986-2988)aaG>aaA	p.K996K	MYH6_ENST00000356287.3_Silent_p.K996K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	996					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	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		CTTTCTTCTCCTTGGTCAGCT	0.517000													71	168					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183669338	183669338	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183669338G>A	ENST00000334444.6	-	20	3075	c.2835C>T	c.(2833-2835)tcC>tcT	p.S945S	ABCC5_ENST00000265586.6_Silent_p.S945S	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	945	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATGCAGCCGGGAGGAAGCTC	0.572000													41	84					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762864	181762864	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:181762864G>A	ENST00000357570.5	+	45	6127	c.5815G>A	c.(5815-5817)Gac>Aac	p.D1939N	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1988N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1969N			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1988					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCCTTCGGACACCCAGGA	0.512000													17	18					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749427	196749427	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196749427G>A	ENST00000312428.6	-	35	5745	c.5645C>T	c.(5644-5646)tCa>tTa	p.S1882L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1882					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						AGTTCGATCTGAAATTGGACT	0.358000													32	49					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196051264	196051264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:196051264C>T	ENST00000446879.1	-	4	452	c.327G>A	c.(325-327)ctG>ctA	p.L109L	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Silent_p.L83L|TM4SF19_ENST00000273695.3_Silent_p.L109L			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	109						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CAAAGCAAATCAGGGCTCCAA	0.498000													31	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682490	100682490	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100682490C>T	ENST00000306151.4	+	3	7857	c.7793C>T	c.(7792-7794)cCt>cTt	p.P2598L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2598	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)					TCAACAACTCCTGTTGACACC	0.463000													12	883					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201898	135201898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135201898G>A	ENST00000372169.2	-	10	5269	c.5087C>T	c.(5086-5088)tCt>tTt	p.S1696F	SETX_ENST00000393220.1_Missense_Mutation_p.S1696F|SETX_ENST00000224140.5_Missense_Mutation_p.S1696F			Q7Z333	SETX_HUMAN	senataxin	1696					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTCAGAGACAGACTGTGATGA	0.403000													6	105					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833626	74833626	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:74833626G>A	ENST00000370895.1	+	15	1637	c.1602G>A	c.(1600-1602)ggG>ggA	p.G534G	TNNI3K_ENST00000326637.3_Silent_p.G433G|FPGT-TNNI3K_ENST00000370899.3_Silent_p.G534G|TNNI3K_ENST00000370891.2_Silent_p.G534G|FPGT-TNNI3K_ENST00000557284.1_Silent_p.G534G|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		433	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CACCCTTGGGGAAGATTAAAA	0.294000													28	101					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131256803	131256803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131256803C>T	ENST00000303890.5	+	19	2280	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	ODF2_ENST00000372796.4_Silent_p.F589F|ODF2_ENST00000393533.2_Silent_p.F589F|ODF2_ENST00000448249.3_Silent_p.F508F|ODF2_ENST00000372807.5_Silent_p.F584F|ODF2_ENST00000372814.3_Silent_p.F633F|ODF2_ENST00000372791.3_Silent_p.F570F|ODF2_ENST00000546203.1_Silent_p.F570F|ODF2_ENST00000444119.2_Silent_p.F565F|ODF2_ENST00000351030.3_Silent_p.F584F|ODF2_ENST00000434106.2_Silent_p.F589F	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	589					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGCAGTTCCAGTCTCAGC	0.567000													4	99					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227966265	227966265	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:227966265T>C	ENST00000396625.3	-	17	1191	c.984A>G	c.(982-984)ctA>ctG	p.L328L	COL4A4_ENST00000329662.7_Silent_p.L328L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	328	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)		CAACCAGTCCTAGTTCTCCCT	0.343000													14	29					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135863815	135863815	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135863815C>T	ENST00000339463.3	+	8	1289	c.470C>T	c.(469-471)tCc>tTc	p.S157F	GFI1B_ENST00000534944.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372123.1_Missense_Mutation_p.S157F|GFI1B_ENST00000450530.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372122.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372124.1_Missense_Mutation_p.S157F			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	157	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTCCGCTACTCCCCAGGCATG	0.637000													15	55					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667859	106667859	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106667859C>T	ENST00000390606.2	-	0	134																											CCCCCAGACTCCACCAGCTGC	0.562000													11	198					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424956	91424956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91424956C>T	ENST00000268171.3	+	16	2512	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAA	0.617000													65	155					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590483	40590483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40590483G>A	ENST00000260402.3	-	11	1345	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	PLCB2_ENST00000557821.1_Missense_Mutation_p.P366S|PLCB2_ENST00000456256.2_Missense_Mutation_p.P366S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	366	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCCTCGTCAGGGGGTTTCCCC	0.607000													8	76					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086195	56086195	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56086195G>A	ENST00000312711.1	+	1	413	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCATGTCACGAAGGGTATGT	0.418000													50	107					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25969287	25969287	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:25969287C>T	ENST00000395473.2	+	4	1825	c.357C>T	c.(355-357)ttC>ttT	p.F119F	LGALS9_ENST00000302228.5_Silent_p.F119F|LGALS9_ENST00000313648.6_Silent_p.F119F|LGALS9_ENST00000310394.5_Silent_p.F119F|LGALS9_ENST00000413914.2_Silent_p.F62F	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	119	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGATCCTCTTCGTGCAGTACT	0.607000													7	106					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543642	29543642	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29543642C>T	ENST00000389048.3	-	7	2427	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	507	MAM 2.				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)	ACCGGGCATCCTTTAGGGTCC	0.557000			"""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				84	159					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118979168	118979168	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:118979168G>A	ENST00000276201.2	-	4	531	c.462C>T	c.(460-462)atC>atT	p.I154I	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Silent_p.I154I	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	154	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TACCATCATCGATAGTCCCGA	0.333000													17	83					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72501222	72501222	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:72501222G>A	ENST00000319622.6	-	6	1032	c.576C>T	c.(574-576)ttC>ttT	p.F192F	PKM_ENST00000449901.2_Silent_p.F177F|PKM_ENST00000568459.1_Silent_p.F192F|PKM_ENST00000389093.3_Silent_p.F192F|PKM_ENST00000335181.5_Silent_p.F192F|PKM_ENST00000565184.1_Silent_p.F192F|PKM_ENST00000565154.1_Silent_p.F192F|PKM_ENST00000568883.1_Intron	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CCGTCACCAGGAAGTCGGCAC	0.582000													8	31					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133923728	133923728	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133923728C>T	ENST00000220616.4	+	19	4149	c.4109C>T	c.(4108-4110)tCa>tTa	p.S1370L	TG_ENST00000377869.1_Missense_Mutation_p.S1370L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1370					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACATGGAAATCACGGCTTGAG	0.478000													53	116					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94910858	94910858	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:94910858C>T	ENST00000357742.4	+	10	1326	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	MCTP2_ENST00000451018.3_Silent_p.L442L|MCTP2_ENST00000331706.4_Silent_p.L30L|MCTP2_ENST00000557742.1_Silent_p.L30L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	442					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTCGGCACTCCCTCTGAAGC	0.522000													58	125					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490318	42490318	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42490318C>T	ENST00000545399.1	-	5	613	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E111K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E152K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E141K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	141					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCTTGGCCTCCTGGTAGTAG	0.607000													45	137					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35825991	35825991	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35825991G>A	ENST00000423537.2	-	2	437	c.168C>T	c.(166-168)tcC>tcT	p.S56S	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	56										endometrium(2)|kidney(1)|lung(4)	7						GCACCAAAGGGGATTCAGAGG	0.547000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	178					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845350	139845350	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:139845350C>T	ENST00000303045.6	-	5	1223	c.777G>A	c.(775-777)ggG>ggA	p.G259G	COL22A1_ENST00000435777.1_Silent_p.G259G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	259	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCTCTCTTCCCCAAGATTT	0.473000										HNSCC(7;0.00092)			32	69					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769592	160769592	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160769592C>T	ENST00000263285.5	+	2	204	c.174C>T	c.(172-174)atC>atT	p.I58I	LY9_ENST00000368041.2_Silent_p.I18I|LY9_ENST00000368039.2_Silent_p.I58I|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.I58I|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	58	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGTCAGGGATCCTAGGGGGTT	0.522000													57	73					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482533	71482533	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:71482533C>T	ENST00000296755.7	+	4	760	c.462C>T	c.(460-462)tcC>tcT	p.S154S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	154						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCTCCAGTCCGGCTCTTTCT	0.493000													39	97					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103324081	103324081	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:103324081C>T	ENST00000520539.1	-	19	2906	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	UBR5_ENST00000220959.4_Missense_Mutation_p.R767Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R761Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	767					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	protein binding|RNA 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)			GATACAGTATCGTACCCAATT	0.363000													30	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451268	179451268	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179451268C>T	ENST00000589042.1	-	308	64584	c.64360G>A	c.(64360-64362)Gaa>Aaa	p.E21454K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12514K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19813K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18886K|TTN_ENST00000460472.2_Missense_Mutation_p.E12389K|TTN_ENST00000342175.6_Missense_Mutation_p.E12581K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19813	Fibronectin type-III 55.						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)			CCTTCAGCTTCTCTTGGCAAA	0.378000													49	89					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640086	49640086	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49640086C>T	ENST00000334186.4	+	15	2120	c.1771C>T	c.(1771-1773)Ctg>Ttg	p.L591L	PPFIA3_ENST00000602351.1_Silent_p.L591L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	591						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)		GGCCGAGCTGCTGTCCCCCAG	0.662000													10	9					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43347835	43347835	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43347835G>A	ENST00000344686.2	-	0	2022							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACGCGGTGGATGGGCTCTT	0.662000													11	56					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989197	2989197	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2989197C>T	ENST00000246112.4	+	12	1080	c.879C>T	c.(877-879)gcC>gcT	p.A293A	TLE6_ENST00000452088.1_Silent_p.A170A|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	170					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCCACGGCCATCAGCAGCT	0.622000													20	47					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259487	29259487	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29259487G>A	ENST00000379558.4	+	18	2850	c.2499G>A	c.(2497-2499)atG>atA	p.M833I	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.M778I	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	833							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCGCCAAGATGATCCCCCTCC	0.502000													33	69					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711062	11711062	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11711062C>T	ENST00000262442.3	+	44	8502	c.8434C>T	c.(8434-8436)Cgc>Tgc	p.R2812C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2812	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATATCAATCGCATCTTGGA	0.537000													43	68					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118592	4118592	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:4118592C>T	ENST00000324333.10	-	3	614	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	GLIS3_ENST00000381971.3_Missense_Mutation_p.A296T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	141	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGAGCGGGCCGAGTGGGAC	0.557000													17	79					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129249750	129249750	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129249750G>A	ENST00000296271.3	+	2	487	c.393G>A	c.(391-393)ctG>ctA	p.L131L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	131			L -> P (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGGTGGTCCTGGCCATCGAGC	0.612000													104	210					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520676	58520676	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:58520676A>G	ENST00000302819.5	-	2	449	c.158T>C	c.(157-159)gTt>gCt	p.V53A	ACOX2_ENST00000459701.2_Missense_Mutation_p.V53A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	53					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCCCTTACCAACTTTCCTGCG	0.493000													13	325					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696507	48696507	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48696507G>A	ENST00000544264.1	-	1	3841	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	CELSR3_ENST00000164024.4_Silent_p.F1187F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1187	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCCCGACGGGAAGGTGTCTG	0.542000													42	102					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39328184	39328184	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39328184G>A	ENST00000287152.7	-	18	2163	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V	KIF6_ENST00000541946.1_Missense_Mutation_p.A141V|KIF6_ENST00000373215.3_Missense_Mutation_p.A673V|KIF6_ENST00000373216.3_Missense_Mutation_p.A690V|KIF6_ENST00000394362.1_Missense_Mutation_p.A141V|KIF6_ENST00000373213.4_Missense_Mutation_p.A529V|KIF6_ENST00000229913.5_Missense_Mutation_p.A141V|KIF6_ENST00000538893.1_Missense_Mutation_p.A634V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	690					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGTTGGTGGCCTCCTCTGC	0.582000													114	110					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387203	45387203	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45387203C>T	ENST00000389039.6	-	32	4711	c.4326G>A	c.(4324-4326)caG>caA	p.Q1442Q	DUOX2_ENST00000603300.1_Silent_p.Q1442Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1442					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACACCAGGTCCTGGTGGTCGT	0.572000													4	100					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817616	7817616	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:7817616C>T	ENST00000329434.2	-	1	904	c.874G>A	c.(874-876)Gag>Aag	p.E292K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCTTAATCTCCTTGTTCCTG	0.403000													10	98					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33642029	33642029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:33642029C>T	ENST00000504830.1	-	11	1939	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G535E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	535	Disintegrin.				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						TGGTTTCTTCCCCACTGTGAT	0.602000										HNSCC(64;0.19)			4	87					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													62	49					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183085729	183085729	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183085729C>T	ENST00000258341.4	+	7	1603	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	449	Laminin EGF-like 4.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTGTGATCCCTCTGGCAGC	0.378000													49	64					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163164	172163164	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172163164C>A	ENST00000241256.2	-	2	930	c.888G>T	c.(886-888)gaG>gaT	p.E296D		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	296					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGAGCAATCTCCAAGGAGC	0.488000													5	98					0.0215528	0.0215711	1	1	0
WDFY1	57590	broad.mit.edu	37	2	224770686	224770686	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:224770686C>T	ENST00000233055.4	-	4	414	c.312G>A	c.(310-312)atG>atA	p.M104I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	104						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TGATAAAGTTCATTTTATTAA	0.279000													10	21					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3176770	3176770	+	Silent	SNP	C	C	T	rs145386347		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:3176770C>T	ENST00000381075.2	+	22	2318	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	PFKP_ENST00000381072.1_Silent_p.G124G|PFKP_ENST00000381125.4_Silent_p.G706G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	706					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGCCCGGGGCAGAGGTAAGG	0.562000													7	190					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750686	40750686	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40750686C>T	ENST00000561234.1	+	2	282	c.23C>T	c.(22-24)tCc>tTc	p.S8F	BAHD1_ENST00000560846.1_Missense_Mutation_p.S8F|BAHD1_ENST00000416165.1_Missense_Mutation_p.S8F			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	8					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGGAGAAAGTCCCTTCCCATG	0.597000													14	216					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	rs104886484		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150878052G>A	ENST00000422024.1	-	3	1338	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	ASB10_ENST00000275838.1_Missense_Mutation_p.R360C|ASB10_ENST00000434669.1_Missense_Mutation_p.R405C|ASB10_ENST00000420175.2_Missense_Mutation_p.R360C|ASB10_ENST00000377867.3_Missense_Mutation_p.R345C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	360					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701000													7	31					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983342	97983342	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97983342C>T	ENST00000383696.2	+	1	255	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCACCTTCATATCCCAAT	0.423000													103	276					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2267928	2267928	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2267928C>T	ENST00000378531.3	-	12	1403	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	410										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAGGAGGCTCCTGTGCCGTGG	0.657000													24	38					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38805730	38805730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38805730G>A	ENST00000359357.3	+	31	3981	c.3727G>A	c.(3727-3729)Gat>Aat	p.D1243N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1243N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1460N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGTTTCGATGATCTGTGGAG	0.323000													24	79					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189267	98189267	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98189267C>T	ENST00000332650.5	+	1	944	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATAGTAGTTCCCTTACTAAA	0.308000													30	74					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627666	25627666	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25627666C>T	ENST00000398215.2	+	6	716	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	182	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCCCCTCACCCCCAGGTGCAG	0.642000													64	181					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026944	7026944	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:7026944C>T	ENST00000409757.4	+	13	2095	c.1971C>T	c.(1969-1971)tcC>tcT	p.S657S	TBC1D14_ENST00000410031.1_Silent_p.S429S|TBC1D14_ENST00000451522.2_Silent_p.S377S|TBC1D14_ENST00000446947.2_Silent_p.S304S|TBC1D14_ENST00000448507.1_Silent_p.S657S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	657						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTTGCCTCCATCGCCACGA	0.607000													30	61					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153482066	153482066	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:153482066G>A	ENST00000288670.9	+	16	2319	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.R26Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	651	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	p.R651Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GATGATGAGCGAATTCTGGAG	0.438000													23	56					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306519	41306519	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:41306519C>T	ENST00000373198.3	-	7	1375	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	PTPRT_ENST00000373190.1_Silent_p.R380R|PTPRT_ENST00000373193.3_Silent_p.R380R|PTPRT_ENST00000373201.1_Silent_p.R380R|PTPRT_ENST00000373184.1_Silent_p.R380R|PTPRT_ENST00000373187.1_Silent_p.R380R|PTPRT_ENST00000356100.2_Silent_p.R380R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	380					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)				CACACTTGGTCCTGGTGGTGA	0.547000													39	84					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249046	55249046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55249046C>T	ENST00000275493.2	+	20	2521	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	EGFR_ENST00000455089.1_Missense_Mutation_p.L737F|EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.L729F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	782	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGGCATCTGCCTCACCTCCAC	0.617000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			54	113					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863463	106863463	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:106863463G>A	ENST00000379987.2	+	8	979		c.e8-1		NPNT_ENST00000453617.2_Splice_Site|NPNT_ENST00000427316.2_Splice_Site|NPNT_ENST00000305572.8_Splice_Site|NPNT_ENST00000514622.1_Splice_Site|NPNT_ENST00000506666.1_Splice_Site	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin						cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GACTCTTTCAGATATCCCAAA	0.353000													21	49					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96949477	96949477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:96949477G>A	ENST00000267584.4	+	16	1939	c.1895G>A	c.(1894-1896)aGg>aAg	p.R632K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	632	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGGCTGGCCAGGGAGGCTGCT	0.562000													4	49					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616586	77616586	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77616586C>T	ENST00000521891.2	+	2	711	c.263C>T	c.(262-264)tCt>tTt	p.S88F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S88F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S88F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S88F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGCCACTTCTTTTCCCAGT	0.512000										HNSCC(33;0.089)			111	200					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436029	27436029	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:27436029A>G	ENST00000295736.5	-	20	3140	c.3070T>C	c.(3070-3072)Ttc>Ctc	p.F1024L	SLC4A7_ENST00000428386.1_Missense_Mutation_p.F900L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F1033L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F1016L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F905L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F574L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.F909L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F1020L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F905L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.F1020L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1024						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAAGTCATGAACACAGAGAGG	0.348000													44	77					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509660	106509660	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:106509660C>T	ENST00000359195.3	+	2	1964	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R552C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R552C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	552					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R552C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAACCAGCTTCGCAAGCAATT	0.527000													50	118					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30521121	30521121	+	Silent	SNP	C	C	T	rs111248500		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:30521121C>T	ENST00000358365.3	+	11	1091	c.864C>T	c.(862-864)ttC>ttT	p.F288F	RHOT1_ENST00000354266.3_Silent_p.F267F|RHOT1_ENST00000581094.1_Silent_p.F288F|RHOT1_ENST00000583994.1_Silent_p.F161F|RHOT1_ENST00000333942.6_Silent_p.F288F|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Silent_p.F288F|RHOT1_ENST00000394692.2_Silent_p.F288F	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	288					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AATATTTGTTCCCCCTGTATG	0.398000													13	624					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135027970	135027970	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135027970C>T	ENST00000409645.1	+	3	507	c.255C>T	c.(253-255)acC>acT	p.T85T	MGAT5_ENST00000281923.2_Silent_p.T85T			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	85					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGAAGAAAACCCTTGCTGTGT	0.403000													23	76					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464068	50464068	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:50464068G>A	ENST00000404971.1	-	19	4864	c.3525C>T	c.(3523-3525)atC>atT	p.I1175I	NRXN1_ENST00000405472.3_Silent_p.I1127I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.I1135I|NRXN1_ENST00000406316.2_Silent_p.I1135I|NRXN1_ENST00000342183.5_Silent_p.I100I|NRXN1_ENST00000401669.2_Silent_p.I1135I|NRXN1_ENST00000402717.3_Silent_p.I1127I|NRXN1_ENST00000401710.1_Silent_p.I153I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1135	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTTATACGTGATTTGTCCAC	0.453000													46	65					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627705	26627705	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:26627705G>A	ENST00000380573.3	-	3	2385	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000276393.4_Silent_p.V454V|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	454					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGATGGTGTGGACCTTAATGG	0.527000													102	217					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732062	157732062	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:157732062C>T	ENST00000502773.1	-	3	912	c.422G>A	c.(421-423)aGg>aAg	p.R141K	PDGFC_ENST00000422544.2_Missense_Mutation_p.R141K|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000542208.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	141	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAATCTTATCCTAATTTGATT	0.398000													24	57					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449941	158449941	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:158449941T>A	ENST00000355585.4	+	3	443	c.368T>A	c.(367-369)aTc>aAc	p.I123N	SYNJ2_ENST00000367121.3_Missense_Mutation_p.I123N|SYNJ2_ENST00000449859.2_Missense_Mutation_p.I72N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.I123N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	123	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTGAAGAAAATCCTCAGCTCG	0.502000													28	47					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223484396	223484396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:223484396G>A	ENST00000281828.6	-	14	1575	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	FARSB_ENST00000536361.1_Missense_Mutation_p.H339Y	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	438					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTACTTATGTGGACTGCCTTT	0.358000													15	36					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41974873	41974873	+	Missense_Mutation	SNP	G	G	A	rs141701895		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:41974873G>A	ENST00000216259.7	-	6	571	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	163					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						AACTTCTCCCGGATCTTCTCT	0.607000													12	31					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818231	101818231	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:101818231G>A	ENST00000360035.2	+	0	821					NR_002216.1															endometrium(2)|lung(8)	10						CAATTCTAGGGCAAGTAGGGG	0.552000													57	26					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96136873	96136873	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:96136873C>T	ENST00000467865.1	+	0	1983				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CTTCCTTCTCCTTCTTGGAGT	0.517000			T	TRA@	T-ALL								32	50					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52344192	52344192	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:52344192G>A	ENST00000296585.5	+	5	530		c.e5-1			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCTTTGAAGACATGTGGTC	0.418000													24	41					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128327179	128327179	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:128327179G>A	ENST00000368207.3	-	15	2579	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Intron|PTPRK_ENST00000368227.3_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	777					cell migration|cellular response to reactive oxygen species|cellular response to UV|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)		ACAGGTAGTAGGAGTAAGAAT	0.393000													9	11					0	0	1	0	0
RPS14	6208	broad.mit.edu	37	5	149823899	149823899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149823899G>A	ENST00000401695.3	-	5	452	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	RPS14_ENST00000312037.5_Missense_Mutation_p.P136S|RPS14_ENST00000407193.1_Missense_Mutation_p.P136S			P62263	RS14_HUMAN	ribosomal protein S14	136					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCAGAGGGGATGGGGGTG	0.532000													44	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151949087	151949087	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151949087G>A	ENST00000355193.2	-	11	1776	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	KMT2C_ENST00000262189.6_Silent_p.L520L					lysine (K)-specific methyltransferase 2C																		TCAGCTCCCAGGTGTTTACAA	0.398000													27	78					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862667	23862667	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23862667C>T	ENST00000405093.3	-	23	3059	c.2989G>A	c.(2989-2991)Gag>Aag	p.E997K	MYH6_ENST00000356287.3_Missense_Mutation_p.E997K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	997					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	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		GCTTTCTTCTCCTTGGTCAGC	0.512000													71	162					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726822	32726822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32726822G>A	ENST00000435145.2	-	3	512	c.451C>T	c.(451-453)Cca>Tca	p.P151S	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.P151S|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.P151S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	151					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ATCTGGGCTGGATAGAAATCT	0.562000													27	166					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993581	52993581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52993581C>T	ENST00000259803.7	-	6	945	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGTGATTCCTCCCAGACCATA	0.453000													24	97					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60233462	60233462	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60233462C>T	ENST00000534668.1	+	5	694	c.405C>T	c.(403-405)atC>atT	p.I135I	MS4A1_ENST00000389939.2_Silent_p.I135I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Silent_p.I135I|MS4A1_ENST00000532073.1_Silent_p.I135I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	135					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TTCTTTCAATCATGGACATAC	0.308000													32	62					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329107	144329107	+	Translation_Start_Site	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:144329107A>T	ENST00000370493.3	+	1	760	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	1										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AACCAGAATCATGGAACAGCC	0.458000													96	45					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181423	24181423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24181423C>T	ENST00000265769.4	+	9	907	c.797C>T	c.(796-798)aCc>aTc	p.T266I	ADAM28_ENST00000437154.2_Missense_Mutation_p.T266I|ADAM28_ENST00000540823.1_Missense_Mutation_p.T33I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.T13I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	266	Peptidase M12B.				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)		ATAAAGATAACCCCAAATGCA	0.378000													24	26					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99957000	99957000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:99957000C>T	ENST00000372981.1	-	2	220	c.34G>A	c.(34-36)Gag>Aag	p.E12K	SYTL4_ENST00000263033.5_Missense_Mutation_p.E12K|SYTL4_ENST00000454200.2_Missense_Mutation_p.E12K|SYTL4_ENST00000455616.1_Missense_Mutation_p.E12K|SYTL4_ENST00000372989.1_Missense_Mutation_p.E12K|SYTL4_ENST00000276141.6_Missense_Mutation_p.E12K			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	12	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTCCTCCTCAGACAGAAAA	0.423000													21	11					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42840067	42840067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:42840067C>T	ENST00000432191.2	+	11	1325	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	PPHLN1_ENST00000256678.8_Missense_Mutation_p.S347F|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S442F	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	442					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gctatgctctctgttgtacat	0.448000													14	37					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222798	22222798	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22222798G>A	ENST00000374695.3	-	2	148	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	23					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCAGCCCATGGGTCACCTGTA	0.562000													8	287					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713569	32713569	+	Splice_Site	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32713569G>C	ENST00000374940.3	+	3	435	c.331_splice	c.e3-1	p.E111_splice		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	111	Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCACCACAGAGGTTCCTGAGG	0.507000													6	164					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943751	121943751	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121943751A>C	ENST00000442488.2	-	1	808	c.741T>G	c.(739-741)gaT>gaG	p.D247E	FEZF1_ENST00000427185.2_Missense_Mutation_p.D197E|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.D247E	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	247					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTCGGCTGAAATCCGAGGTTT	0.498000													81	191					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302743	123302743	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123302743G>A	ENST00000458573.2	+	2	1260	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	368						cytoskeleton	actin binding|tropomyosin binding										CAGCAGGAGGGATACGATGGA	0.473000													61	156					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	661767	661767	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:661767G>A	ENST00000255622.6	+	21	2518	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PDE6B_ENST00000496514.1_Silent_p.E825E|PDE6B_ENST00000429163.2_Silent_p.E546E	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	825					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGAGAAGGAGGAGGAGGAGA	0.562000													27	103					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212635	62212635	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:62212635G>A	ENST00000519846.1	+	3	721	c.249G>A	c.(247-249)agG>agA	p.R83R	CLVS1_ENST00000325897.4_Silent_p.R83R|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	83					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCCGAGCCAGGAAGTTTCACC	0.473000													26	60					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745486	54745486	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54745486G>A	ENST00000440558.2	-	4	672	c.624C>T	c.(622-624)tcC>tcT	p.S208S	LILRA6_ENST00000396365.2_Silent_p.S208S|LILRA6_ENST00000270464.5_Silent_p.S208S|LILRA6_ENST00000245621.5_Silent_p.S208S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Silent_p.S208S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACTGGGGTGGGACCACACCC	0.612000													4	131					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978767	119978767	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:119978767C>T	ENST00000307142.4	+	5	3660	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	800						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGGAATCCATTGTGGCA	0.493000													37	90					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435619	145435619	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:145435619C>T	ENST00000511217.1	+	7	1450	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	SH3RF2_ENST00000359120.4_Silent_p.S466S|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	466							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTGTGTCCTCCCAAGGCA	0.507000													103	209					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799899	76799899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76799899G>A	ENST00000312010.6	-	16	2702	c.2378C>T	c.(2377-2379)tCt>tTt	p.S793F	USP36_ENST00000542802.2_Missense_Mutation_p.S793F|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	793					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GTGTGGAAGAGACACAAGGTC	0.617000													31	189					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560223	19560223	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:19560223G>A	ENST00000397821.3	-	16	2002	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P534L|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P310L|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P333L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	571					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						CAGGGGGGAGGGCGCCGCTGA	0.647000													97	15					0	0	1	0	0
ZFYVE21	79038	broad.mit.edu	37	14	104195252	104195252	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104195252C>T	ENST00000216602.6	+	4	478	c.366C>T	c.(364-366)acC>acT	p.T122T	ZFYVE21_ENST00000311141.2_Silent_p.T122T	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	122						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AAGGAGCCACCTTCCTCGTCA	0.527000													7	103					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660058	52660058	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52660058C>T	ENST00000322146.8	-	5	1399	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.R293Q	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTGACTTCTCCGGTGATTTAC	0.393000													31	70					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186105930	186105930	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186105930C>T	ENST00000271588.4	+	87	13672	c.13443C>T	c.(13441-13443)tcC>tcT	p.S4481S	HMCN1_ENST00000367492.2_Silent_p.S4481S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4481	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTCTATTTCCTGGGATGACC	0.413000													7	165					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34136668	34136668	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34136668G>A	ENST00000331923.4	-	3	829	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	PAXBP1_ENST00000290178.4_Missense_Mutation_p.L214F|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		CCTGGACGAAGAACATTCAAT	0.358000													30	44					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19591301	19591301	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:19591301C>T	ENST00000507958.1	-	9	1854	c.864G>A	c.(862-864)ggG>ggA	p.G288G	CDH18_ENST00000506372.1_Silent_p.G288G|CDH18_ENST00000274170.4_Silent_p.G288G|CDH18_ENST00000502796.1_Silent_p.G288G|CDH18_ENST00000511273.1_Silent_p.G288G|CDH18_ENST00000382275.1_Silent_p.G288G			Q13634	CAD18_HUMAN	cadherin 18, type 2	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTGATTTTCCCAACAGCTG	0.383000													36	66					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103600052	103600052	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103600052C>T	ENST00000560869.1	+	11	2374	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.P248S|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.P62S|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.P579S			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	579					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GCCTGCTCTCCCTACGCTGGC	0.642000													19	31					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	24048839	24048839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:24048839G>A	ENST00000546136.1	-	1	121	c.119C>T	c.(118-120)cCc>cTc	p.P40L	SOX5_ENST00000541847.1_Missense_Mutation_p.P43L|SOX5_ENST00000541536.1_Missense_Mutation_p.P40L|SOX5_ENST00000545921.1_Missense_Mutation_p.P43L|SOX5_ENST00000441133.2_Missense_Mutation_p.P53L|SOX5_ENST00000381381.2_Missense_Mutation_p.P40L|SOX5_ENST00000451604.2_Missense_Mutation_p.P53L|SOX5_ENST00000537393.1_Missense_Mutation_p.P53L|SOX5_ENST00000309359.1_Missense_Mutation_p.P40L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	53					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CACATGCAAGGGAAGGTGAAA	0.532000													8	361					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557487	56557487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56557487C>T	ENST00000323777.3	-	2	801	c.692G>A	c.(691-693)tGg>tAg	p.W231*		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGTTCTGCCATATTCTATG	0.473000													34	141					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303337	151303337	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:151303337C>T	ENST00000370323.4	-	4	1072	c.756G>A	c.(754-756)atG>atA	p.M252I	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.M252I	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	252	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCATCATATTCAGTG	0.522000													75	27					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756817	248756817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248756817G>A	ENST00000330500.2	-	1	283	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTGGCCAGCTGGTTCACCAGC	0.498000													7	70					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538607	1538607	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1538607G>A	ENST00000263071.4	-	11	1987	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.S560S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	646	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCCGGAAAGGACTCGGGGG	0.692000													20	32					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35507514	35507514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35507514G>A	ENST00000217320.3	+	3	304	c.260G>A	c.(259-261)gGt>gAt	p.G87D	TLDC2_ENST00000602922.1_Missense_Mutation_p.G87D	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		TCAAGGGACGGTTTCAGCCTG	0.642000													61	110					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299511	141299511	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141299511G>A	ENST00000389484.3	-	44	8195	c.7224C>T	c.(7222-7224)ttC>ttT	p.F2408F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2408					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)		CCAAACTGAGGAAAGTCCCTG	0.363000										TSP Lung(27;0.18)			22	51					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609536	95609536	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95609536G>A	ENST00000395505.2	-	3	1517	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	ZNF484_ENST00000332591.6_Silent_p.L475L|ZNF484_ENST00000375495.3_Silent_p.L511L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.L513L	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGTGCTTAATGAGATTTGACC	0.393000													53	119					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72352879	72352879	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72352879A>T	ENST00000375366.3	-	3	1480	c.1354T>A	c.(1354-1356)Tcc>Acc	p.S452T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	452						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGTACTCGGAGTTGCGCCGC	0.662000													16	41					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852124	75852124	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:75852124C>T	ENST00000356136.3	+	15	2008	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	UVRAG_ENST00000539288.1_Silent_p.L217L|UVRAG_ENST00000538870.1_Silent_p.L145L|UVRAG_ENST00000533454.1_Silent_p.L217L|UVRAG_ENST00000532130.1_Silent_p.L217L|UVRAG_ENST00000531818.1_Silent_p.L217L|UVRAG_ENST00000528420.1_Silent_p.L488L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	589					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GAGAAGCCCTCTCCGGGCACC	0.572000													32	60					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144399945	144399945	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144399945C>T	ENST00000523676.1	-	11	1389	c.984G>A	c.(982-984)cgG>cgA	p.R328R	TOP1MT_ENST00000521193.1_Silent_p.R328R|TOP1MT_ENST00000329245.4_Silent_p.R426R|TOP1MT_ENST00000519148.1_Silent_p.R328R			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	426					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGTTGTAGGTCCGGAACACCT	0.632000													23	56					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71044193	71044193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:71044193G>A	ENST00000452400.2	-	16	3384	c.3203C>T	c.(3202-3204)cCt>cTt	p.P1068L	NCOA2_ENST00000267974.4_Missense_Mutation_p.P156L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1068					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTCAGCTGCAGGATGTGGACA	0.498000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								3	19					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11017793	11017793	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11017793G>A	ENST00000377004.4	-	7	572	c.573C>T	c.(571-573)tcC>tcT	p.S191S	C1orf127_ENST00000377008.4_Silent_p.S42S	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	42										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCCTCGAAGGGACAGCAGCC	0.577000													39	116					0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386101	126386101	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126386101T>A	ENST00000357061.3	+	0	553					NR_034158.1																						ACCAGAACCCTTTCTCCTTTG	0.582000													15	51					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190195368	190195368	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:190195368C>T	ENST00000367462.3	-	6	1036	c.805G>A	c.(805-807)Gga>Aga	p.G269R	FAM5C_ENST00000534846.1_Missense_Mutation_p.G167R|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		269						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATAAACTCTCCCTCTGAATTG	0.443000													33	82					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6021339	6021339	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6021339C>T	ENST00000574946.1	+	8	1596	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	WSCD1_ENST00000574232.1_Silent_p.S402S|WSCD1_ENST00000573634.1_Silent_p.S286S|WSCD1_ENST00000317744.5_Silent_p.S402S|WSCD1_ENST00000539421.1_Silent_p.S402S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTGGCGGAGCCGACGCACCA	0.557000													33	76					0	0	1	0	0
GPX2	2877	broad.mit.edu	37	14	65409291	65409291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65409291C>T	ENST00000389614.5	-	1	240	c.154G>A	c.(154-156)Gag>Aag	p.E52K	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	52					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	CATTGCAGCTCGTTGAGCTGG	0.567000													55	93					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715365	68715365	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:68715365C>T	ENST00000325631.5	+	2	227	c.153C>T	c.(151-153)ctC>ctT	p.L51L	MARVELD2_ENST00000413223.2_Silent_p.L51L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	51	Poly-Pro.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CACCCCCTCTCCCATTACAGC	0.542000													34	70					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35736128	35736128	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:35736128A>G	ENST00000300618.4	+	3	249	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.T67A|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	67						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GACTATAGCTACCCTGCAGTG	0.403000													38	88					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793273	15793273	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15793273G>A	ENST00000550308.1	+	6	980	c.600G>A	c.(598-600)ttG>ttA	p.L200L	CYP4F12_ENST00000324632.9_Silent_p.L200L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCATGACCTTGGACAGTCTAC	0.522000													61	107					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239170	170239170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:170239170C>T	ENST00000518525.1	+	11	1695	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	GABRP_ENST00000265294.4_Missense_Mutation_p.P411S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	411						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATTCAAAACCCCAGTAATGT	0.363000													33	69					0	0	1	0	0
SNORD113-4	767564	broad.mit.edu	37	14	101402881	101402881	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101402881C>T	ENST00000364802.1	+	0	54					NR_003232.1																						TGATTAAACCCATATGCAATT	0.378000													42	95					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147830816	147830816	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147830816C>T	ENST00000354217.2	-	7	1259	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.G366R			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGATGATGTCCCCTGTGCAGA	0.478000													8	200					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52732378	52732378	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:52732378A>T	ENST00000287727.3	+	6	2502	c.2330A>T	c.(2329-2331)aAc>aTc	p.N777I	ZFYVE9_ENST00000357206.2_Intron|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N777I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	777	SBD.				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTAACCCTAACAATCCTGCT	0.493000													39	106					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075533	83075533	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:83075533C>T	ENST00000369750.3	+	2	1472	c.855C>T	c.(853-855)ccC>ccT	p.P285P	TPBG_ENST00000535040.1_Silent_p.P285P|TPBG_ENST00000543496.1_Silent_p.P285P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	285					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		AAGGTCTACCCCACATTAGGG	0.547000													39	84					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61941191	61941191	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61941191C>T	ENST00000422202.1	+	9	1276	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	COL20A1_ENST00000358894.6_Missense_Mutation_p.S396F|COL20A1_ENST00000326996.6_Missense_Mutation_p.S396F|COL20A1_ENST00000435874.1_Missense_Mutation_p.S403F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	396	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATCCGCCTGTCCTGGACTCCA	0.677000											OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572463	140572463	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140572463C>T	ENST00000239446.4	+	1	522	c.338C>T	c.(337-339)cCc>cTc	p.P113L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGATGATCCCTTTCAGATT	0.418000													24	67					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262738	248262738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248262738C>T	ENST00000366478.2	+	3	398	c.61C>T	c.(61-63)Caa>Taa	p.Q21*	OR2L13_ENST00000358120.2_Nonsense_Mutation_p.Q21*	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCCCCCAAATCAAACTGGAAT	0.418000													13	237					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75172025	75172025	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75172025G>A	ENST00000417775.1	-	10	1449	c.945C>T	c.(943-945)atC>atT	p.I315I	CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Silent_p.I281I|CRYZ_ENST00000340866.5_Silent_p.I315I|CRYZ_ENST00000370872.3_Silent_p.I178I	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	315					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TACCATGAATGATATTTTCAT	0.418000													40	98					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98779411	98779411	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98779411C>T	ENST00000477737.1	+	8	1290	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	VWA3B_ENST00000435344.1_Silent_p.P362P|VWA3B_ENST00000451075.2_Silent_p.P212P	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	362										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGAGCCTCCCAAGCCCGACG	0.572000													11	111					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273376	210273376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:210273376C>T	ENST00000537238.1	+	7	1011	c.620C>T	c.(619-621)tCa>tTa	p.S207L	SYT14_ENST00000399639.2_Missense_Mutation_p.S245L|SYT14_ENST00000422431.1_Missense_Mutation_p.S290L|SYT14_ENST00000534859.1_Missense_Mutation_p.S245L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.S207L|SYT14_ENST00000472886.1_Missense_Mutation_p.S245L|SYT14_ENST00000367019.1_Missense_Mutation_p.S245L	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	245						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GCTCAAGGATCATCTTCGCAG	0.338000													24	75					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991543	241991543	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241991543C>T	ENST00000310397.8	+	14	1938	c.1938C>T	c.(1936-1938)ccC>ccT	p.P646P	SNED1_ENST00000342631.6_Silent_p.P646P|SNED1_ENST00000401884.1_Silent_p.P646P|SNED1_ENST00000405547.3_Silent_p.P646P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	646	EGF-like 9.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGACTGTCCCCCAGGCTTCT	0.617000													15	47					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632899	169632899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:169632899G>A	ENST00000366787.3	-	13	2041	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	598	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.P598S(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGTCGGGGACCAGGGCA	0.677000													23	46					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193360	28193360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:28193360C>T	ENST00000302326.4	-	1	4126	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1058							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GACGACACCTCGTCCTCATTG	0.642000			T	ETV6	"""AML, meningioma"""								43	96					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218924864	218924864	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:218924864G>A	ENST00000439871.1	-	0	1516					NR_002712.1																						AGTAATTATGGCAAGGGGTGA	0.512000													6	6					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428845	43428845	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43428845C>T	ENST00000406070.2	-	0	1471					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				caaggattttcccatgaaatt	0.418000													9	44					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58934579	58934579	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58934579C>T	ENST00000423743.3	+	17	2507	c.2249C>T	c.(2248-2250)cCt>cTt	p.P750L	KIAA0586_ENST00000556134.1_Missense_Mutation_p.P779L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P847L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P718L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	718										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAAAGAAACCTAACATAGCC	0.423000													40	92					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090945	32090945	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:32090945G>A	ENST00000438447.1	+	20	7779	c.7391G>A	c.(7390-7392)aGg>aAg	p.R2464K	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2464K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2464					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGTTAAGAGGAACAAGTCC	0.567000													6	141					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:19077810C>T	ENST00000329773.2	-	2	227	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000													71	70					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70513996	70513996	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:70513996C>T	ENST00000260128.4	+	10	1710	c.993C>T	c.(991-993)tcC>tcT	p.S331S	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.S331S|SULF1_ENST00000402687.4_Silent_p.S331S|SULF1_ENST00000458141.2_Silent_p.S331S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	331					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGGGAAATCCATGCCATATG	0.448000													99	213					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245851937	245851937	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:245851937G>A	ENST00000366518.4	+	9	4613	c.4509G>A	c.(4507-4509)ggG>ggA	p.G1503G	KIF26B_ENST00000407071.2_Silent_p.G1884G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1884					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGCCATGGGGAAGACGGCCC	0.721000													5	5					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582696	158582696	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158582696C>T	ENST00000368148.3	-	51	7225	c.7045G>A	c.(7045-7047)Gaa>Aaa	p.E2349K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2346K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2349	EF-hand 2.				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)					TTGATGTTTTCTGACTCCTTG	0.473000													24	90					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215865496	215865496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:215865496C>T	ENST00000272895.7	-	22	3331	c.3112G>A	c.(3112-3114)Gga>Aga	p.G1038R	ABCA12_ENST00000389661.4_Missense_Mutation_p.G720R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1038					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTTCCTTCCAGTTTGCAAT	0.413000													45	123					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111862893	111862893	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111862893G>A	ENST00000369740.1	+	12	1339	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.G304G|CHIA_ENST00000483391.1_Silent_p.G251G|CHIA_ENST00000343320.6_Silent_p.G412G|CHIA_ENST00000451398.2_Silent_p.G251G|CHIA_ENST00000353665.6_Silent_p.G251G	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	412					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GTGGCAGCGGGAACGGGAGCG	0.582000													38	67					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510295	142510295	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142510295C>T	ENST00000417977.2	-	0	422																											GAGATAGAAGCCAGAGTCACT	0.577000													15	34					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135958667	135958667	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135958667C>T	ENST00000562646.1	-	5	690	c.536G>A	c.(535-537)gGa>gAa	p.G179E	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G44E|RBMX_ENST00000565438.1_Missense_Mutation_p.G51E|RBMX_ENST00000320676.7_Missense_Mutation_p.G179E			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	179						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTACCTCTTCCTCCCATTCC	0.463000													49	25					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851211	44851211	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:44851211G>A	ENST00000225512.5	-	2	307	c.145C>T	c.(145-147)Cca>Tca	p.P49S		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	49					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCAGGCCTGGGATGGAGCCG	0.637000													12	38					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417336	11417336	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11417336G>A	ENST00000316737.1	+	5	657	c.507G>A	c.(505-507)atG>atA	p.M169I	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.M144I|TSPAN16_ENST00000590327.1_Missense_Mutation_p.M169I	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	169						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTTCGAAATGACAACGGGCC	0.468000													35	86					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50396379C>T	ENST00000374148.1	-	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I	C10orf128_ENST00000374151.3_Start_Codon_SNP_p.M1I|C10orf128_ENST00000374153.2_Start_Codon_SNP_p.M1I|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000474718.1_Start_Codon_SNP_p.M1I			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	1						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCCCAAGTTCATGCTGGCGC	0.647000													21	75					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878660	5878660	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5878660G>A	ENST00000537935.1	-	1	304	c.273C>T	c.(271-273)ttC>ttT	p.F91F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGAACCAGAAGATGCCCA	0.468000													5	205					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100562789	100562789	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100562789G>A	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GTTAAGTCAGGATATAGCAGG	0.453000													17	18					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427584	119427584	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:119427584C>T	ENST00000369429.3	-	8	1589	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	TBX15_ENST00000207157.3_Missense_Mutation_p.R421K			Q96SF7	TBX15_HUMAN	T-box 15	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGCAGCTAGCCTAGGGGAAGT	0.537000													18	49					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182635130	182635130	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:182635130G>A	ENST00000483095.2	-	5	424	c.167C>T	c.(166-168)tCc>tTc	p.S56F	RGS8_ENST00000258302.4_Missense_Mutation_p.S74F|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Missense_Mutation_p.S56F|RGS8_ENST00000367557.4_Missense_Mutation_p.S56F			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	56	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACATCAAAGGAATCTGCCCA	0.403000													17	328					0	0	1	0	0
MLLT11	10962	broad.mit.edu	37	1	151039887	151039887	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151039887G>A	ENST00000368921.3	+	2	2989	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	63					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent					upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAACCCTGAAGGTGATGGCCT	0.527000													69	188					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39524352	39524352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:39524352G>A	ENST00000537403.1	-	10	2250	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R523*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R552*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R426*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	552					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTTACCAGTCGAATGAGCTGT	0.413000													63	99					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100060	160100060	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160100060G>A	ENST00000361216.3	+	12	1719	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G544R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	544					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.G544R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGAGCTGGGGGGACTTGGGGA	0.617000													73	95					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	982235	982235	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:982235C>T	ENST00000379370.2	+	19	3336	c.3286C>T	c.(3286-3288)Cct>Tct	p.P1096S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1096	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGTGGCCACCCCTGGGCCACC	0.697000													6	10					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189841	95189841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:95189841C>T	ENST00000027335.3	-	4	383	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CDH17_ENST00000441892.2_Missense_Mutation_p.E87K|CDH17_ENST00000450165.2_Missense_Mutation_p.E87K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	87	Cadherin 1.					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)			GATCTTGTTTCCCTGTCCAAG	0.458000													57	138					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127755363	127755363	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:127755363G>A	ENST00000368679.4	-	13	1654	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.R449C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	449	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCAGCAGCGATTCATACAT	0.507000													25	43					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684213	46684213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46684213G>A	ENST00000274793.7	-	4	480	c.284C>T	c.(283-285)aCc>aTc	p.T95I	PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.T95I|PLA2G7_ENST00000538237.1_Missense_Mutation_p.T50I	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	95					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GATCCAAAGGGTGTCAAGGCG	0.373000													26	135					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349664	90349664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90349664G>A	ENST00000300060.6	-	2	464	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	51	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GAGGCGGACGGGGTGGTGGAG	0.622000													47	124					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228492875	228492875	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228492875G>A	ENST00000570156.2	+	54	14392	c.14318G>A	c.(14317-14319)gGg>gAg	p.G4773E	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1450E|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3816					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACAGAAGGGGCCACGGCT	0.567000													57	66					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177902430	177902430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177902430C>T	ENST00000308284.6	-	22	2831	c.2742G>A	c.(2740-2742)tgG>tgA	p.W914*	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	914					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGCTGAACCAGCCAAACC	0.572000													4	25					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653640	159653640	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:159653640G>A	ENST00000297267.9	+	11	2296	c.2096G>A	c.(2095-2097)aGg>aAg	p.R699K	FNDC1_ENST00000340366.6_Missense_Mutation_p.R636K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	699	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCGGCCCGGAGGACCCCCCAT	0.697000													16	18					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271671	36271671	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36271671C>T	ENST00000007510.4	+	10	926	c.782C>T	c.(781-783)cCc>cTc	p.P261L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P261L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P125L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	261					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCGATGGCCCCCCATGTGGC	0.642000													31	138					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581755	7581755	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7581755G>A	ENST00000379802.3	+	23	5673	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1778	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)		GAGAGAGAGGGAAAATTTGAG	0.408000													50	176					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582806	180582806	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180582806C>T	ENST00000328275.1	+	1	864	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCAACCCCCTCATTTACA	0.597000													26	63					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929721	121929721	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:121929721G>A	ENST00000265922.3	-	8	2388	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		643					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTCTTGGAGGGATCCGACAGG	0.562000													80	182					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26156085	26156085	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:26156085G>A	ENST00000381655.2	+	23	2278	c.2136G>A	c.(2134-2136)gcG>gcA	p.A712A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A672A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	672					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A712A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AAGAAACTGCGATTAATATAG	0.333000													31	59					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696937	17696937	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:17696937C>T	ENST00000399080.2	-	1	2769	c.2746G>A	c.(2746-2748)Gat>Aat	p.D916N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	916										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGTGAAAATCCTTTGAATTA	0.299000													16	46					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630418	74630418	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74630418G>A	ENST00000358632.4	-	9	1682	c.987C>T	c.(985-987)atC>atT	p.I329I	CYP11A1_ENST00000419019.2_Silent_p.I329I|CYP11A1_ENST00000268053.6_Silent_p.I487I	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	487					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGAGGTGTTGGATTTCAACTC	0.527000													36	88					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61565055	61565055	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61565055C>T	ENST00000457692.1	+	6	845	c.512C>T	c.(511-513)tCc>tTc	p.S171F	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.S171F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	171					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.S171F(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGATTAATTCCTGGGTCAAG	0.343000													5	68					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415606	86415606	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86415606C>T	ENST00000361669.2	+	3	1597	c.498C>T	c.(496-498)atC>atT	p.I166I	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.I38I|GRM3_ENST00000394720.2_Silent_p.I164I|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.I166I|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	166					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTTCCAGATCCCTCAGATCA	0.522000													83	365					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657333	46657333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46657333G>A	ENST00000544460.1	+	1	1722	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D490N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	490					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)			TGCCTTCTACGATGCGCAGGT	0.413000													47	127					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201342331	201342331	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201342331C>T	ENST00000458432.2	-	3	116	c.48G>A	c.(46-48)ctG>ctA	p.L16L	TNNT2_ENST00000236918.7_Intron|TNNT2_ENST00000509001.1_Intron|TNNT2_ENST00000367318.5_Intron|TNNT2_ENST00000367315.2_Intron|TNNT2_ENST00000367317.4_Intron|TNNT2_ENST00000360372.4_Intron|TNNT2_ENST00000421663.2_Silent_p.L16L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Intron	NM_001276345.1	NP_001263274.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	14					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CAAGATGCTCCAGATACTCAC	0.552000													5	258					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79412096	79412096	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:79412096C>T	ENST00000370742.3	-	3	251	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	63	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		AGTTAAATTTCCACATTCATT	0.313000													13	32					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636451	121636451	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121636451C>T	ENST00000393386.2	+	9	1355	c.944C>T	c.(943-945)cCa>cTa	p.P315L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P315L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	315	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTTCAGAACCAGAAAATGTT	0.343000													24	114					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651139	96651139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:96651139G>A	ENST00000302103.5	+	3	434	c.108G>A	c.(106-108)tgG>tgA	p.W36*		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	36					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CCAACAGCTGGATCTTCAGTC	0.393000													47	118					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468271	50468271	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50468271G>A	ENST00000331340.3	+	8	1661	c.1506G>A	c.(1504-1506)cgG>cgA	p.R502R	IKZF1_ENST00000438033.1_Silent_p.R415R|IKZF1_ENST00000349824.4_Silent_p.R359R|IKZF1_ENST00000343574.5_Silent_p.R415R|IKZF1_ENST00000357364.4_Silent_p.R415R|IKZF1_ENST00000346667.4_Silent_p.R272R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.R460R|IKZF1_ENST00000439701.1_Silent_p.R460R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	502					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCAGGACCGGTACGAGTTCT	0.607000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	40					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415689	37415689	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37415689C>T	ENST00000535679.1	-	1	94	c.95G>A	c.(94-96)gGg>gAg	p.G32E	SULT6B1_ENST00000379149.2_Missense_Mutation_p.G32E|SULT6B1_ENST00000407963.1_5'UTR|SULT6B1_ENST00000260637.3_5'UTR			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	32						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GTAAGGAATCCCCTGATAGGT	0.418000													38	68					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298103	167298103	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167298103C>T	ENST00000409855.1	-	14	2086	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	654					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAAATTCTTCATAATTCTTA	0.443000													30	61					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3994118	3994118	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3994118A>G	ENST00000381638.2	-	12	2044	c.1920T>C	c.(1918-1920)ggT>ggC	p.G640G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	640							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGATGAGCAACCAATCCTGT	0.388000													20	53					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957388	35957388	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35957388C>T	ENST00000274278.3	-	5	1334	c.977G>A	c.(976-978)gGa>gAa	p.G326E	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G292E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G326E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	326						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATATCACTCCTTGAGGGAG	0.507000													16	63					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421200	37421200	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:37421200G>A	ENST00000374660.1	+	4	474	c.375G>A	c.(373-375)acG>acA	p.T125T	ANKRD30A_ENST00000361713.1_Silent_p.T125T|ANKRD30A_ENST00000602533.1_Silent_p.T125T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	181						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T125T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATCCATAACGAAAAGAAGTG	0.284000													38	73					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54405901	54405901	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:54405901C>T	ENST00000274306.6	+	5	715	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	227	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGGGTCACTTCCTTTGGCCTT	0.483000													47	77					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113386708	113386708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113386708C>T	ENST00000228928.7	+	6	1251	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	358	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCACCCCATCCAGCTAGACCC	0.587000													13	13					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037523	14037523	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14037523C>T	ENST00000318003.7	+	19	2299	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	CC2D1A_ENST00000589606.1_Silent_p.F686F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	686	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGTTTGACTTCCCCTATCCCA	0.622000													11	214					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169876	90169876	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:90169876G>A	ENST00000333209.3	-	2	1904	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	462										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TAGCTTTCAGGGAGCTAGAAT	0.458000													33	87					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430741	51430741	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51430741G>A	ENST00000323686.4	+	1	2011	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	637					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAGCCGCAAGGAGAACCACT	0.632000													13	15					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309623	89309623	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89309623C>T	ENST00000493819.1	-	0	264																											CAGCATAGATCAGGAGCTTAG	0.527000													79	175					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207702	81207702	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:81207702C>T	ENST00000312465.7	+	3	909	c.683C>T	c.(682-684)tCt>tTt	p.S228F	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	228					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCAGAACTTTCTTTCACGGTT	0.478000													37	126					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3336086	3336086	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3336086C>T	ENST00000219069.5	+	4	1582	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ZNF263_ENST00000573578.1_3'UTR|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	236	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GCATCAGGATCCTAGTAAGAG	0.532000													41	152					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40084453	40084453	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:40084453G>A	ENST00000373233.3	-	19	3173	c.2996C>T	c.(2995-2997)tCc>tTc	p.S999F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	999					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCAAAAGTGGACCCTTTCCC	0.483000													99	220					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31329277	31329277	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:31329277C>T	ENST00000597505.1	-	2	342	c.343G>A	c.(343-345)Gat>Aat	p.D115N	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.D115N			P59894	DCDC1_HUMAN	doublecortin domain containing 1	115					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGTAGCTATCTAGGTCTGAT	0.418000													93	195					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218936	42218936	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42218936G>A	ENST00000221992.6	+	3	585	c.471G>A	c.(469-471)gtG>gtA	p.V157V	CEACAM5_ENST00000405816.1_Silent_p.V157V|CEACAM5_ENST00000398599.4_Silent_p.V157V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAAACCCGTGGAGGACAAGG	0.562000													5	268					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775251	38775251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:38775251G>A	ENST00000308973.4	-	4	2566	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	TLR10_ENST00000508334.1_Missense_Mutation_p.P654L|TLR10_ENST00000361424.2_Missense_Mutation_p.P654L|TLR10_ENST00000506111.1_Missense_Mutation_p.P654L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	654	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTCTAGATTGGGGATCAATTC	0.378000													23	61					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579668	82579668	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82579668C>T	ENST00000423517.2	-	6	10573	c.10236G>A	c.(10234-10236)aaG>aaA	p.K3412K	PCLO_ENST00000333891.8_Silent_p.K3412K|PCLO_ENST00000437081.1_Silent_p.K132K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3343					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						CAGAACTTCTCTTTTTGGGTT	0.418000													6	160					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505869	44505869	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44505869C>T	ENST00000255152.2	+	2	881	c.672C>T	c.(670-672)caC>caT	p.H224H	ZSWIM3_ENST00000454862.2_Silent_p.H218H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	224							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCTTGCTACACCGGGTGGAGA	0.557000													41	109					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736284	140736284	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140736284C>T	ENST00000571252.1	+	1	1517	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTATGTCTCCATCAACTCC	0.517000													75	171					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879672	27879672	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27879672G>A	ENST00000303324.2	-	1	502	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CTGCCAACTGGAAGCAGAGCC	0.473000													13	198					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207078371	207078371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207078371G>A	ENST00000367091.3	-	8	1309	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000420007.2_3'UTR|FAIM3_ENST00000442471.2_Missense_Mutation_p.P277L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	389					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTGTCAGGCAGGAACATTGAT	0.537000													11	190					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38962433	38962433	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38962433C>T	ENST00000357387.3	-	19	1729	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D567N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	567					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AACTGTTCATCTTTATAGTTT	0.244000													12	169					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548239	22548239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:22548239G>A	ENST00000317216.2	-	2	1268	c.911C>T	c.(910-912)cCc>cTc	p.P304L	EGR3_ENST00000522910.1_Missense_Mutation_p.P266L|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	304					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCACTGGAAGGGCTTGTGGCC	0.677000													14	108					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692437	145692437	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145692437C>T	ENST00000301332.2	+	3	651	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	92					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCCGAGTTCCTCTCCGTCCA	0.756000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	15					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796744	21796744	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21796744G>A	ENST00000206660.6	+	18	3057	c.3057G>A	c.(3055-3057)atG>atA	p.M1019I	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.M345I|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M1019I|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.M378I|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.M981I|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.M676I			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1019	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAATAGAATGGAGTATCTTA	0.408000													36	68					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112878086	112878086	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:112878086C>T	ENST00000161863.4	+	10	1594	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	YTHDC2_ENST00000515883.1_Missense_Mutation_p.L461F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	461							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGTGAATTGCCTTGAACCATG	0.323000													5	206					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408325	50408325	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50408325C>T	ENST00000217086.4	-	2	808	c.697G>A	c.(697-699)Gag>Aag	p.E233K	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.E233K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	233					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGATCTGCTCGGTGAGCTGG	0.632000													44	87					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005616	155005616	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155005616C>T	ENST00000368424.3	-	2	451	c.393G>A	c.(391-393)ctG>ctA	p.L131L	DCST2_ENST00000295536.5_Silent_p.L131L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGGTCTGGTTCAGGGCCAGCT	0.627000													18	21					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828102	23828102	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23828102C>T	ENST00000216733.3	-	5	1841	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	EFS_ENST00000429593.2_Missense_Mutation_p.G243R|EFS_ENST00000351354.3_Missense_Mutation_p.G319R	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	412					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCGGCATCCCCCTCTCGGGC	0.637000													45	79					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57219580	57219580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57219580C>T	ENST00000343433.6	-	8	1239	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	387										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGTTGTTTTTCCTTCATTTTT	0.338000													24	67					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377692	44377692	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44377692C>T	ENST00000587539.1	-	3	673	c.674G>A	c.(673-675)aGa>aAa	p.R225K	ZNF404_ENST00000324394.6_Missense_Mutation_p.R223K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGAATGACGTCTAAAAGCCTT	0.378000													10	171					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669525	53669525	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53669525A>C	ENST00000600412.1	-	2	138	c.23T>G	c.(22-24)gTg>gGg	p.V8G	ZNF665_ENST00000396424.3_Missense_Mutation_p.V73G			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CTCCAACTTCACCGTGTAGAA	0.403000													115	185					0	0	1	0	0
TRAJ27	28728	broad.mit.edu	37	14	22985274	22985274	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22985274C>T	ENST00000390510.1	+	0	24																											GGCAAATCAACCTTTGGGGAT	0.458000													95	179					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221725	62221725	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62221725G>A	ENST00000266068.1	-	9	1788	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	GMEB2_ENST00000370069.1_Missense_Mutation_p.S386F|GMEB2_ENST00000370077.1_Missense_Mutation_p.S437F			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	437					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTGGAGCCGGAAGAGGCCAA	0.697000													5	21					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180141	124180141	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124180141G>A	ENST00000357821.2	-	1	592	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGTAATGGTTGATAATGTGGG	0.458000													29	29					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757618	116757618	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:116757618C>T	ENST00000331677.3	+	7	2431	c.1987C>T	c.(1987-1989)Ctc>Ttc	p.L663F	DSE_ENST00000537543.1_Missense_Mutation_p.L682F|DSE_ENST00000452085.3_Missense_Mutation_p.L663F|DSE_ENST00000359564.2_Missense_Mutation_p.L663F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	663					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGCAGCTTACCTCTTCATAGG	0.512000													90	45					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42459656	42459656	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:42459656G>A	ENST00000318006.5	-	13	1475	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	VPS39_ENST00000348544.4_Missense_Mutation_p.T449I	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	449					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GGATTTGATGGTGGGAGTGCC	0.493000													31	58					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32994989	32994989	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:32994989C>T	ENST00000330953.5	+	2	243	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	25					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATGAAAGTATCCCCAAGCCTT	0.453000													42	81					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26239706	26239706	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26239706C>T	ENST00000335473.7	+	18	3463	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	MYO18B_ENST00000536101.1_Silent_p.S1071S|MYO18B_ENST00000407587.2_Silent_p.S1072S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1071	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						TTCCAGGGTCCTCTGCCCTGC	0.577000													55	104					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429259	48429259	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48429259G>A	ENST00000224605.2	-	2	892	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	209					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCGCCTTGACGATGGGGGAGA	0.736000													15	31					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													6	219					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413872	26413872	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26413872C>T	ENST00000289361.6	+	10	1862	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	BTN3A1_ENST00000414912.2_Silent_p.F446F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	498	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCCTGTTTTCAGAATTTTGA	0.453000													42	131					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406956	38406956	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38406956A>C	ENST00000322350.5	+	8	1201	c.855A>C	c.(853-855)ggA>ggC	p.G285G	EGFLAM_ENST00000336740.6_Silent_p.G51G|EGFLAM_ENST00000354891.3_Silent_p.G285G|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	285						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)					CTACCAAAGGAGGGAATAAGA	0.423000													33	158					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5443049	5443049	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5443049C>T	ENST00000380419.3	-	2	42	c.3_splice	c.e2-1	p.R2_splice	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	2					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAGGCACTCCCTCTAAAATAA	0.483000													43	71					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273251	125273251	+	Silent	SNP	C	C	T	rs140585563		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125273251C>T	ENST00000335302.5	+	1	171	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCTTCACACCCCCATGTACT	0.522000													53	183					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807483	143807483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143807483G>A	ENST00000408979.2	+	1	877	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGAGCAGGAGAAAATGCT	0.517000													95	373					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800672	84800672	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:84800672G>A	ENST00000389394.3	+	12	2022	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E629K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E629K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	629	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGGAAAATGAAAGTCTTGA	0.343000													57	106					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661520	153661520	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153661520G>A	ENST00000368680.3	+	16	2981	c.2509G>A	c.(2509-2511)Gca>Aca	p.A837T		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	837					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCGGACCCAGGCATACCTGGA	0.617000													80	265					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825474	76825474	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76825474C>T	ENST00000278559.3	+	5	882	c.693C>T	c.(691-693)tcC>tcT	p.S231S	CAPN5_ENST00000456580.2_Silent_p.S271S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.S231S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	231	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TCAGTGCCTCCATCAAGGTGA	0.587000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	283					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247586554	247586554	+	Silent	SNP	G	G	A	rs149161277		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247586554G>A	ENST00000366497.2	+	3	1086	c.306G>A	c.(304-306)tcG>tcA	p.S102S	NLRP3_ENST00000391827.2_Silent_p.S102S|NLRP3_ENST00000366496.2_Silent_p.S102S|NLRP3_ENST00000336119.3_Silent_p.S102S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.S102S|NLRP3_ENST00000391828.3_Silent_p.S102S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S102S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGTGTTTCGAATCCCACTG	0.398000													113	135					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148695	155148695	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155148695C>T	ENST00000392451.2	+	3	740	c.657C>T	c.(655-657)tcC>tcT	p.S219S	TRIM46_ENST00000543729.1_Silent_p.S226S|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Silent_p.S196S|TRIM46_ENST00000368383.3_Silent_p.S219S|TRIM46_ENST00000334634.4_Silent_p.S219S|TRIM46_ENST00000545012.1_Silent_p.S93S|TRIM46_ENST00000368385.4_Silent_p.S219S			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	219						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTACCCTCTCCTTCCGACCCA	0.637000													7	100					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528457	77528457	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:77528457C>T	ENST00000373304.3	-	3	1079	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	263					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGTTTAGTTTCATTGTGTAAA	0.408000													52	23					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645641	7645641	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:7645641G>A	ENST00000340209.4	+	5	871	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RBFOX1_ENST00000553186.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E207K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E207K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E230K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E204K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E207K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E230K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	187	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.E207K(2)		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						CCGTAAAATCGAGGTGCATGT	0.448000													50	110					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43584919	43584919	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43584919G>A	ENST00000452443.2	-	3	431	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	143					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGACTCCAAGGGTTAAAAAGT	0.463000													6	188					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023292	93023292	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:93023292G>A	ENST00000523629.1	-	5	950	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H166Y|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H177Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	166	TAFH.				generation of precursor metabolites and energy	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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTTTGGAATGAAATTCTTCA	0.318000													26	85					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63044532	63044532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:63044532C>T	ENST00000561311.1	+	34	4468	c.4238C>T	c.(4237-4239)tCa>tTa	p.S1413L	TLN2_ENST00000306829.6_Missense_Mutation_p.S1413L			Q9Y4G6	TLN2_HUMAN	talin 2	1413					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCAGGGATTTCACAGAATGCC	0.542000													12	117					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62135252	62135252	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62135252G>A	ENST00000433197.2	-	12	1403	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	436					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGGAGTCCACGGGGGCCTCGG	0.582000													10	49					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224141	153224141	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153224141G>A	ENST00000310441.7	-	10	2648	c.1682C>T	c.(1681-1683)cCt>cTt	p.P561L	HCFC1_ENST00000369984.4_Missense_Mutation_p.P561L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P492L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	561					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	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	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)					TGCCGAGGAAGGGGGGATCTT	0.647000													42	18					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768316	60768316	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60768316C>T	ENST00000303375.5	+	28	4421	c.4019C>T	c.(4018-4020)aCt>aTt	p.T1340I	MRC2_ENST00000446119.2_Missense_Mutation_p.T206I	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1340	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCAGGAGGCACTCTGGTCTGG	0.612000													14	25					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271836	22271836	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22271836G>A	ENST00000594947.1	+	4	1428	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTGGAGAGAAACCCTACA	0.393000													21	52					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320428	79320428	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79320428G>A	ENST00000428286.1	-	8	6885	c.5685C>T	c.(5683-5685)agC>agT	p.S1895S	PRUNE2_ENST00000376718.3_Silent_p.S2254S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2254					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGAGAAAAGCTGTCTGATA	0.448000													16	39					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934399	44934399	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44934399C>T	ENST00000291187.4	-	6	861	c.539G>A	c.(538-540)gGa>gAa	p.G180E	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.G186E	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGCCCAAGATCCTTGAATGGG	0.423000													32	75					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448956	52448956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52448956C>T	ENST00000293471.6	+	6	2499	c.1820C>T	c.(1819-1821)tCa>tTa	p.S607L	ZNF613_ENST00000391794.4_Missense_Mutation_p.S571L|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GCCAGAAGTTCAGTCTCAGCA	0.428000													25	44					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42300614	42300614	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42300614G>A	ENST00000357396.3	+	1	246	c.5G>A	c.(4-6)gGg>gAg	p.G2E	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G2E|CEACAM3_ENST00000221999.4_Missense_Mutation_p.G2E	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	2						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GAGACCATGGGGCCCCCCTCA	0.597000													27	64					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48514613	48514613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48514613G>A	ENST00000358350.4	-	57	8634	c.8030C>T	c.(8029-8031)cCc>cTc	p.P2677L	FRYL_ENST00000507873.2_Missense_Mutation_p.P73L|FRYL_ENST00000503238.1_Missense_Mutation_p.P2677L|FRYL_ENST00000264319.7_Missense_Mutation_p.P73L|FRYL_ENST00000537810.1_Missense_Mutation_p.P2677L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2677					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGCCACGGGCTGAAAGGC	0.493000													30	61					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6306814	6306814	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6306814C>T	ENST00000301452.4	-	6	783	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	236						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						TTGAGGGTTTCACCTGGCATC	0.592000													25	46					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48792283	48792283	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48792283C>T	ENST00000156084.4	-	3	757	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	OTUD5_ENST00000396743.3_Missense_Mutation_p.V233M|OTUD5_ENST00000376488.3_Missense_Mutation_p.V233M|OTUD5_ENST00000428668.2_Missense_Mutation_p.V16M|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	233	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TCTCCATACACCTGGTCAGCT	0.542000													19	16					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36217199	36217199	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36217199C>T	ENST00000420124.1	+	14	3948	c.3948C>T	c.(3946-3948)gtC>gtT	p.V1316V	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.V1316V																							ACTGGGACGTCGAGTGGTCTG	0.607000													27	54					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134034296	134034296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:134034296G>A	ENST00000220616.4	+	40	6977	c.6937G>A	c.(6937-6939)Gga>Aga	p.G2313R	TG_ENST00000377869.1_Missense_Mutation_p.G2256R|TG_ENST00000542445.1_Missense_Mutation_p.G683R|TG_ENST00000519543.1_Missense_Mutation_p.G446R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2313					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGAGTGAAGGATGGCCGGC	0.572000													67	127					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176264	10176264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:10176264C>T	ENST00000380833.4	+	9	1414	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	CLCN4_ENST00000421085.2_Silent_p.F247F|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	341						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGGGGTCTTCGGGGGCTTGT	0.572000													215	49					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866124	208866124	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:208866124G>A	ENST00000457206.1	-	2	667	c.240C>T	c.(238-240)ctC>ctT	p.L80L	PLEKHM3_ENST00000389247.4_Silent_p.L80L|PLEKHM3_ENST00000427836.2_Silent_p.L80L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	80					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGTTTCTAAGAGCCTGCTCT	0.473000													33	90					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152122	45152122	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:45152122G>A	ENST00000296129.1	-	4	1001	c.867C>T	c.(865-867)acC>acT	p.T289T	CDCP1_ENST00000425231.2_Silent_p.T289T	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	289						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)		CGGGGTTGGTGGTGGAGCCCG	0.577000													15	208					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379376	67379376	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67379376C>T	ENST00000322776.6	+	8	1242	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NDUFV1_ENST00000415352.2_Silent_p.I356I|NDUFV1_ENST00000532303.1_Silent_p.I262I|NDUFV1_ENST00000529927.1_Silent_p.I354I|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	363					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	AGACGGACATCGTGAAAGCCA	0.627000													31	81					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44009425	44009425	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44009425G>A	ENST00000427076.1	-	0	1105					NR_003655.2																						TCCTCATCAGGGTCAACCTCC	0.682000													9	29					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322652	45322652	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45322652C>T	ENST00000391955.1	+	12	1567	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	BCAM_ENST00000270233.6_Missense_Mutation_p.T508I			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	508	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCTCTCTGACCCTGAAAGTG	0.657000													5	199					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069384	9069384	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9069384G>A	ENST00000397910.4	-	3	18265	c.18062C>T	c.(18061-18063)tCt>tTt	p.S6021F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6023	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						TTTATGCATAGAATTGGTGGT	0.453000													17	262					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17309896	17309896	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:17309896C>T	ENST00000425038.1	+	0	1052					NR_003607.1																						TACATCATATCTCCCTCCTTT	0.433000													4	4					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26798945	26798945	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26798945G>A	ENST00000409392.1	+	3	314	c.212G>A	c.(211-213)gGa>gAa	p.G71E	C2orf70_ENST00000329615.3_Missense_Mutation_p.E84K			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCTGCTGATGGAGCGCGCCAG	0.607000													59	140					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814024	60814024	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60814024G>A	ENST00000544856.2	-	7	1580	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L	MARCH10_ENST00000311269.5_Missense_Mutation_p.S402L|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S402L|MARCH10_ENST00000583600.1_Missense_Mutation_p.S440L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	402							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGTGTCCCACGAAAGAGGGCT	0.512000													49	160					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26228956C>T	ENST00000335473.7	+	16	3302	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GGATCAAAATCCCTCTCAGGT	0.502000													45	92					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44148369	44148369	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44148369C>T	ENST00000542245.1	+	16	1754	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	CAPN11_ENST00000398776.1_Silent_p.F572F			Q9UMQ6	CAN11_HUMAN	calpain 11	572	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCAGGACTTCCTACATTTGT	0.597000													48	57					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284027	159284027	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159284027G>A	ENST00000332217.5	-	1	422	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTTGGATACAGGCCCTCTTAC	0.512000													64	69					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132051171	132051171	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:132051171C>T	ENST00000336375.5	+	4	529	c.439C>T	c.(439-441)Cct>Tct	p.P147S	ACPP_ENST00000475741.1_Missense_Mutation_p.P147S|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.P147S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	147						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GCACACAGTTCCTCTTTCTGA	0.507000													32	45					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629453	145629453	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:145629453G>A	ENST00000296575.3	+	7	1946	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	431						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGGCTCCACGATCCAGGCAG	0.517000													23	61					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212248423	212248423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:212248423G>A	ENST00000342788.4	-	28	4154	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P1266S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1272S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1282					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)		AGGTATTCAGGATTCTCTGCC	0.507000										TSP Lung(8;0.080)			37	61					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420995	105420995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105420995G>A	ENST00000333244.5	-	7	912	c.793C>T	c.(793-795)Caa>Taa	p.Q265*		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	265						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTATGGATTGAAATTTTGGC	0.577000													17	28					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700900	8700900	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8700900G>A	ENST00000329805.4	-	1	1767	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	513						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCATCACCACGAAGCCCCCGA	0.637000													28	62					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561611	11561611	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11561611G>A	ENST00000294484.6	+	2	700	c.562G>A	c.(562-564)Gac>Aac	p.D188N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D188N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	188					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTTACCGGGACACTTCCGC	0.697000													10	24					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113445585	113445585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113445585G>A	ENST00000392583.2	+	9	1939	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	OAS2_ENST00000342315.4_Missense_Mutation_p.E578K|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	578	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTATGCCTGGGAGCAGGGGAG	0.527000													55	109					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881024	39881024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39881024G>A	ENST00000393939.2	-	10	1723	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q649*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q597*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q580*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	649	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCACCTTTCTGGAGCATCTTC	0.612000													10	295					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57349224	57349224	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57349224A>T	ENST00000361249.3	+	6	821	c.725A>T	c.(724-726)aAa>aTa	p.K242I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	242	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAAGTTAAAAAAGACAAGTCT	0.428000													29	90					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588310	39588310	+	Missense_Mutation	SNP	G	G	A	rs138168567		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:39588310G>A	ENST00000352251.3	-	11	1912	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	PROSER1_ENST00000350125.3_Missense_Mutation_p.S338F|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	360	Pro-rich.							p.S360F(1)									AGAAAAAATGGAAGGAACAGG	0.532000													35	60					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296821	28296821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:28296821C>T	ENST00000284987.5	-	8	2465	c.2344G>A	c.(2344-2346)Ggt>Agt	p.G782S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	782	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGGTACTCACCGTTTTTCTTT	0.438000													89	131					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175290	133175290	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133175290C>T	ENST00000329321.3	+	1	1144	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	225						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGCATCTTCGGCGCCTTCG	0.607000													37	74					0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138764329	138764329	+	Nonsense_Mutation	SNP	G	G	A	rs150334373	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:138764329G>A	ENST00000302060.5	-	3	351	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	91	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTAGCATCTCGAGAAACTCCC	0.388000													136	73					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133212545	133212545	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:133212545A>T	ENST00000320574.5	-	42	5787	c.5744T>A	c.(5743-5745)cTc>cAc	p.L1915H	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.L1888H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1915					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATCCATCCAGAGAAGAAATTC	0.478000								DNA polymerases (catalytic subunits)					33	54					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552883	156552883	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156552883C>T	ENST00000368236.3	+	4	996	c.960C>T	c.(958-960)gcC>gcT	p.A320A	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.A320A	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	320							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGCCTGGCCTTTGCATTGA	0.652000													19	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049966	9049966	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9049966C>T	ENST00000397910.4	-	5	31868	c.31665G>A	c.(31663-31665)agG>agA	p.R10555R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10557	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						ATGGGGTTGTCCTGGGAAGAG	0.478000													60	149					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679757	33679757	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33679757C>T	ENST00000394566.1	-	7	2596	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	SLFN11_ENST00000308377.4_Missense_Mutation_p.G775E	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	775						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCGTAAGGTTCCCTGAACACC	0.448000													26	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074833	9074833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9074833C>T	ENST00000397910.4	-	3	12816	c.12613G>A	c.(12613-12615)Gac>Aac	p.D4205N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4207	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCGACATGTCTGTGGTCTTC	0.493000													22	35					0	0	1	0	0
GOLGA8K	653125	broad.mit.edu	37	15	32693652	32693652	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:32693652T>G	ENST00000512626.2	-	2	73	c.73A>C	c.(73-75)Agc>Cgc	p.S25R	RP13-395E19.3_ENST00000562108.1_RNA					golgin A8 family, member K																		ACTCTAGGGCTGTTTTTCTGC	0.463000													7	20					0	0	1	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51670806	51670806	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51670806C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TGCCAGAGTCCGTGACGGTGC	0.597000													4	11					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877947	156877947	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156877947C>T	ENST00000338302.3	+	10	1155	c.930C>T	c.(928-930)cgC>cgT	p.R310R	PEAR1_ENST00000292357.7_Silent_p.R310R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	310						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGTGGGCCGCTTTGGGCAGG	0.721000													14	14					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209143	193209143	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193209143G>A	ENST00000342695.4	-	6	900	c.578C>T	c.(577-579)cCa>cTa	p.P193L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P193L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.P193L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	193					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTCCAAATTGGTGTAACTTC	0.358000													8	142					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94419836	94419836	+	Missense_Mutation	SNP	C	C	T	rs144043383		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94419836C>T	ENST00000555019.1	-	5	926	c.496G>A	c.(496-498)Gac>Aac	p.D166N	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.D118N	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	118					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTGCGCTGGTCGATGGTCCCT	0.602000													17	44					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177620	7177620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7177620C>T	ENST00000406697.1	+	15	2360	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	C1S_ENST00000360817.5_Missense_Mutation_p.R578C|C1S_ENST00000328916.3_Missense_Mutation_p.R578C|C1S_ENST00000402681.3_Missense_Mutation_p.R411C			P09871	C1S_HUMAN	complement component 1, s subcomponent	578	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAGAGAGATCGTGCTGTTCG	0.537000													38	39					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52429399	52429399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52429399G>A	ENST00000420323.2	+	69	11305	c.11044G>A	c.(11044-11046)Gac>Aac	p.D3682N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3747					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)		ACCCGGCACAGACCCTGCTGC	0.572000													13	27					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998415	9998415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:9998415C>T	ENST00000506583.1	-	5	530	c.313G>A	c.(313-315)Gtt>Att	p.V105I	SLC2A9_ENST00000264784.3_Missense_Mutation_p.V134I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.V105I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	134					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTCCCAAGAACCTTTCCAATC	0.488000													13	41					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760276	31760276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31760276G>A	ENST00000375663.3	-	5	1119	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	227					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GTCTTTGGGAGGGCAGGAGCC	0.532000													41	135					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20548646C>T	ENST00000329697.6	-	14	1836	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000567001.1_Silent_p.G556G|ACSM2B_ENST00000565322.1_Silent_p.G477G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000													114	245					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191896189	191896189	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:191896189G>A	ENST00000392320.2	-	22	2412	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	STAT4_ENST00000358470.4_Missense_Mutation_p.P700S|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	700					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTTGAGATGGGGATAAAAACA	0.338000													17	38					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929336	189929336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189929336C>T	ENST00000374866.3	-	25	1937	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	555					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTGGCTTCCTTTGGGTCCT	0.512000													36	73					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6331008	6331008	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:6331008G>A	ENST00000314556.3	+	2	592	c.400G>A	c.(400-402)Gga>Aga	p.G134R		NM_001001874.2	NP_001001874.1	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	0							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GTTAAATCAAGGAAGGAATTA	0.313000													32	30					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783593	133783593	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133783593G>A	ENST00000367895.5	+	8	1022	c.558G>A	c.(556-558)caG>caA	p.Q186Q	EYA4_ENST00000355286.6_Silent_p.Q163Q|EYA4_ENST00000355167.3_Silent_p.Q186Q|EYA4_ENST00000431403.2_Silent_p.Q186Q|EYA4_ENST00000452339.2_Silent_p.Q132Q|EYA4_ENST00000430974.2_Silent_p.Q132Q|EYA4_ENST00000525849.1_Silent_p.Q163Q|EYA4_ENST00000531901.1_Silent_p.Q186Q	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	186					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGACAGGACAGCCCTACAGCT	0.493000													5	101					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420247	8420247	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:8420247G>A	ENST00000337907.3	-	19	3954	c.3320C>T	c.(3319-3321)cCc>cTc	p.P1107L	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1107L|RERE_ENST00000377464.1_Missense_Mutation_p.P839L|RERE_ENST00000476556.1_Missense_Mutation_p.P553L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1107	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGGGGAGGGGGGCTCTCAGG	0.687000													3	6					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119148946	119148946	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119148946A>C	ENST00000264033.4	+	8	1542	c.1166A>C	c.(1165-1167)aAg>aCg	p.K389T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	389	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(13)|p.E369_Q409del(1)|p.E369_D390del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAAAATGATAAGGATGTAAAG	0.358000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				35	34					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186043946	186043946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186043946C>T	ENST00000271588.4	+	53	8442	c.8213C>T	c.(8212-8214)tCa>tTa	p.S2738L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2738L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2738	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTCAAATATCAGACACCGGA	0.358000													56	60					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121712524G>A	ENST00000273691.3	-	6	1045	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000													24	37					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25505441	25505441	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25505441G>A	ENST00000264709.3	-	4	654	c.317C>T	c.(316-318)cCt>cTt	p.P106L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P106L|DNMT3A_ENST00000406659.3_Missense_Mutation_p.P106L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	106					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCCAGCAGGGCTCCCCTC	0.652000			"""Mis, F, N, S"""		AML								21	78					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163397	54163397	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:54163397G>A	ENST00000265572.3	-	2	498	c.201C>T	c.(199-201)tcC>tcT	p.S67S	OPRK1_ENST00000520287.1_Silent_p.S67S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	67					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CGAACACTACGGAGTAGACCG	0.701000													24	59					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052031	132052031	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:132052031C>T	ENST00000286355.5	-	1	2641	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ADCY8_ENST00000377928.3_Silent_p.V183V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	183					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)			CGTTCATCACCACTTCCGATT	0.577000										HNSCC(32;0.087)			24	67					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805903	169805903	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:169805903G>A	ENST00000274629.4	-	4	823	c.381C>T	c.(379-381)ttC>ttT	p.F127F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	127					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GCTGCTCTTGGAATTTGGCTC	0.607000													39	60					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12637325	12637325	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12637325A>G	ENST00000339282.7	-	4	1793	c.1597T>C	c.(1597-1599)Tac>Cac	p.Y533H	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCTTTACGTAAGGTTTATCT	0.363000													4	105					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182878	6182878	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6182878G>A	ENST00000588304.1	+	9	1319	c.873G>A	c.(871-873)ttG>ttA	p.L291L	ACSBG2_ENST00000586696.1_Silent_p.L341L|ACSBG2_ENST00000252669.5_Silent_p.L341L|ACSBG2_ENST00000588485.1_Silent_p.L154L|ACSBG2_ENST00000591403.1_Silent_p.L341L|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	341					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATGGGCTTGAAGAAGAAGG	0.458000													22	50					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488962	70488962	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:70488962G>A	ENST00000310961.5	+	18	2018	c.1600G>A	c.(1600-1602)Ggt>Agt	p.G534S	LRRC7_ENST00000035383.5_Missense_Mutation_p.G529S|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	529						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCTGGCATGGGGTTGTATAAG	0.557000													45	83					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237890389	237890389	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:237890389G>A	ENST00000366574.2	+	76	11045	c.10728G>A	c.(10726-10728)gtG>gtA	p.V3576V	RYR2_ENST00000360064.6_Silent_p.V3574V|RYR2_ENST00000542537.1_Silent_p.V3560V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3576					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCTCAGGTGGAACATCCTC	0.378000													27	60					0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106397352	106397352	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:106397352G>A	ENST00000372466.4	-	5	570	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	107					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ATCAATGTATGGTCCCAAGCA	0.393000													32	28					0	0	1	0	0
LOC101927415	101927415	broad.mit.edu	37	12	124069074	124069074	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124069074G>A	ENST00000498967.2	-	0	588																											CAGGCGGAAGGGGCGGAGCTT	0.761000													3	10					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518068	113518068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:113518068C>T	ENST00000284601.3	-	4	3147	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1027					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTTCATTTTCATGCCTTGCT	0.398000													81	251					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490704	111490704	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111490704G>A	ENST00000369763.4	-	4	2577	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	LRIF1_ENST00000485275.2_Silent_p.F193F|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.F193F	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.F729F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGTCACTGGGAAAATATCTT	0.368000													71	139					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101542555	101542555	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101542555C>T	ENST00000353234.4	-	6	1331	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	ANKS6_ENST00000540940.1_Silent_p.P233P|ANKS6_ENST00000375018.1_Silent_p.P428P|ANKS6_ENST00000375019.2_Silent_p.P127P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	428										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTGGTGGCTCGGCCGGCCTT	0.547000													15	25					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95558273	95558273	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:95558273C>T	ENST00000568768.1	-	0	476																											TTGTAGATTTCACCATTGTAA	0.393000													12	47					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995985	183995985	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183995985G>A	ENST00000402825.3	+	6	988	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ECE2_ENST00000359140.4_Missense_Mutation_p.D183N|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D212N|ECE2_ENST00000357474.5_Missense_Mutation_p.D258N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	330	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCCTGGGACCAGGACAA	0.522000													34	81					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109547432	109547432	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:109547432G>A	ENST00000409271.1	-	3	482	c.39C>T	c.(37-39)ctC>ctT	p.L13L	EDAR_ENST00000258443.2_Silent_p.L13L|EDAR_ENST00000376651.1_Silent_p.L13L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	13					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.L13L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCAGGACGGGGAGCCAGGGCG	0.597000													36	83					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168100299	168100299	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:168100299C>T	ENST00000519560.1	-	33	4143	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E1249K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1242K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1242	Laminin G-like.				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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			GTCACCAGCTCCACACTGTGA	0.557000													11	126					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768730	31768730	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31768730C>T	ENST00000355459.2	+	1	339	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	109						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTGCCGCTCCCTGGGCTAT	0.597000													7	90					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31305356	31305356	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31305356C>T	ENST00000265071.2	+	7	1340	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F	CDH6_ENST00000514738.1_Missense_Mutation_p.L304F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	359	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCACGATTTCTCTACTTGGG	0.458000													26	68					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45129941	45129941	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45129941C>T	ENST00000457685.2	-	6	3246	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	ZNF334_ENST00000593880.1_Silent_p.K702K|ZNF334_ENST00000347606.4_Silent_p.K679K			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAACTTATTCCTTGTGGGATT	0.308000													54	90					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469526	25469526	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25469526G>A	ENST00000264709.3	-	10	1579	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	DNMT3A_ENST00000321117.5_Silent_p.F414F|DNMT3A_ENST00000380746.4_Silent_p.F225F|DNMT3A_ENST00000402667.1_Silent_p.F191F	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	414					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAGGCTGGAAGCCCCCCA	0.632000			"""Mis, F, N, S"""		AML								72	141					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121738038	121738038	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:121738038G>A	ENST00000264808.3	-	6	932	c.692C>T	c.(691-693)tCg>tTg	p.S231L	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	231					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAACTTCGCGAAGACTCCTT	0.378000													132	192					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379789	138379789	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138379789C>A	ENST00000356818.2	+	4	3982	c.3433C>A	c.(3433-3435)Cca>Aca	p.P1145T	PPP1R26_ENST00000605286.1_Missense_Mutation_p.P1145T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P1145T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P1145T|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P1145T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	1145						nucleolus	protein binding										CGGCCCCTGGCCAACCAGGAA	0.627000													18	36					1.67942e-08	1.68801e-08	1	1	0
PROX2	283571	broad.mit.edu	37	14	75330435	75330435	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:75330435C>T	ENST00000556084.2	-	1	102	c.103G>A	c.(103-105)Gat>Aat	p.D35N	PROX2_ENST00000556489.2_Missense_Mutation_p.D35N|PROX2_ENST00000445876.1_Missense_Mutation_p.D35N	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	35					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GAGTCTCTATCCAGCTCTGGA	0.572000													28	34					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606898	54606898	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:54606898G>A	ENST00000371330.1	-	3	1483	c.636C>T	c.(634-636)acC>acT	p.T212T	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	212	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTGCCCACGGGTGGGGCCAG	0.637000													34	51					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704273	68704273	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68704273G>A	ENST00000255078.3	+	13	2436	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	775	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGGGGAAGGGAAGAGGAGGT	0.657000													23	38					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296491	29296491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29296491C>T	ENST00000331664.5	-	1	636	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	213					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCAGCAGCTCCCGGGTCTGG	0.552000													61	117					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514883	123514883	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123514883C>T	ENST00000422452.2	-	32	7765	c.7702G>A	c.(7702-7704)Gaa>Aaa	p.E2568K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2561K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTAGGTTTTCCAGGTAATGG	0.473000													62	37					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591739	591739	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:591739G>A	ENST00000381578.1	+	2	798	c.107G>A	c.(106-108)cGg>cAg	p.R36Q	SHOX_ENST00000334060.3_Missense_Mutation_p.R36Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R36Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R36Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	36					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTACGTACCGGGAAGTTTTG	0.617000													203	96					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102825	61102825	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:61102825C>T	ENST00000196169.3	+	11	1975	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	TDRD3_ENST00000535286.1_Missense_Mutation_p.S489F|TDRD3_ENST00000377881.2_Missense_Mutation_p.S396F|TDRD3_ENST00000377894.2_Missense_Mutation_p.S396F	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	396					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTTAGGTTCTCAGCATAGT	0.378000													5	102					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793398	140793398	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140793398C>T	ENST00000398610.2	+	1	656	c.656C>T	c.(655-657)tCc>tTc	p.S219F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCGCCTCCGACGGGGGT	0.592000													6	80					0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	8996009	8996009	+	Splice_Site	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:8996009T>C	ENST00000362066.3	-	6	702		c.e6-2		FAM9B_ENST00000428477.1_Splice_Site|FAM9B_ENST00000327220.5_Splice_Site			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B							nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				AAATATTCTCTAGAATCCCAA	0.318000													29	56					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58038651	58038651	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58038651T>C	ENST00000556826.1	-	5	1130	c.894A>G	c.(892-894)gcA>gcG	p.A298A	SLC35F4_ENST00000339762.6_Silent_p.A334A|SLC35F4_ENST00000554729.1_Silent_p.A175A	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACCGCAAATGCCACTCCTA	0.403000													8	20					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813766	158813766	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158813766G>A	ENST00000368141.4	+	4	685	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	142					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAAACAAAGAAAAGACTGA	0.413000													98	146					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971636	79971636	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79971636G>A	ENST00000466387.1	+	7	950	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E76K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E76K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E110K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E76K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E76K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	76					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAAAGGGTGAACAGATCGC	0.458000													20	39					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42866541	42866541	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42866541C>T	ENST00000025301.2	+	4	247	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	24					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAGATGTGTTCCAGTCTGTAA	0.388000													28	52					0	0	1	0	0
SEC1P	653677	broad.mit.edu	37	19	49183664	49183664	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49183664G>A	ENST00000430145.2	+	0	751					NR_004401.2																						TGAACGACTGGATGGAGGAGG	0.657000													23	51					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607895	46607895	+	Silent	SNP	G	G	A	rs144527787		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:46607895G>A	ENST00000239174.6	-	1	464	c.372C>T	c.(370-372)tcC>tcT	p.S124S	HOXB1_ENST00000577092.1_Silent_p.S124S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	124						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTAGCCATCGGACAAGCCCC	0.622000													10	145					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327935	67327935	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67327935C>T	ENST00000304372.5	-	12	1785	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	577						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTTGGCATTTCGGCATAGGGA	0.582000													96	97					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397308	5397308	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:5397308C>T	ENST00000341928.2	-	18	2930	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	EPB41L3_ENST00000542146.1_Missense_Mutation_p.V169M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V695M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V161M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V642M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V642M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V864M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	864	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCGCGTGCACCACACGCCGC	0.612000													5	141					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76602947	76602947	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:76602947T>C	ENST00000287239.4	+	3	821	c.332T>C	c.(331-333)tTa>tCa	p.L111S	KAT6B_ENST00000372711.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372714.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372724.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372725.1_Missense_Mutation_p.L111S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	111	H15.				histone H3 acetylation|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 factor binding|zinc ion binding	p.N108_R112delNKLLR(1)									AATAAACTTTTAAGGAGAGCA	0.453000													100	182					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46709721	46709721	+	Splice_Site	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46709721A>C	ENST00000311956.4	-	4	415		c.e4+1			NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1						Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCAGGTACTCACCCCAGGAGC	0.567000													4	29					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961236	99961236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:99961236C>T	ENST00000297565.4	+	2	552	c.56C>T	c.(55-57)aCc>aTc	p.T19I	OSR2_ENST00000522510.1_Missense_Mutation_p.T19I|OSR2_ENST00000435298.2_Missense_Mutation_p.T19I|OSR2_ENST00000457907.2_Missense_Mutation_p.T140I|OSR2_ENST00000523368.1_Missense_Mutation_p.T19I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	19					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CTGCAGCTCACCAATTACTCC	0.632000													24	63					0	0	1	0	0
WBSCR16	81554	broad.mit.edu	37	7	74486579	74486579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:74486579G>A	ENST00000503250.2	-	2	398	c.329C>T	c.(328-330)tCa>tTa	p.S110L	WBSCR16_ENST00000543840.1_Missense_Mutation_p.S110L|WBSCR16_ENST00000329959.4_Missense_Mutation_p.S110L			Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	110										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGCAGCAGATGAAATCTGAAA	0.413000													38	160					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548033	228548033	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228548033C>T	ENST00000284548.11	+	81	19514	c.19440C>T	c.(19438-19440)ttC>ttT	p.F6480F	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.F3599F			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGAGACCTTCCACTGTGGTG	0.652000													76	76					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84375276	84375276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:84375276G>A	ENST00000428679.2	-	3	748	c.155C>T	c.(154-156)aCc>aTc	p.T52I	SNAP91_ENST00000521743.1_Missense_Mutation_p.T52I|SNAP91_ENST00000520302.1_Missense_Mutation_p.T52I|SNAP91_ENST00000521485.1_Missense_Mutation_p.T52I|SNAP91_ENST00000437520.1_Missense_Mutation_p.T52I|SNAP91_ENST00000520213.1_Missense_Mutation_p.T52I|SNAP91_ENST00000369694.2_Missense_Mutation_p.T52I|SNAP91_ENST00000439399.2_Missense_Mutation_p.T52I|SNAP91_ENST00000195649.6_Missense_Mutation_p.T52I			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	52	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATTAACATTGGTCTCGTTGGT	0.363000													57	36					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032507	9032507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9032507C>T	ENST00000383836.3	-	21	3002	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D835N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	859					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGCTCCATCAGATCGTAAC	0.672000			T	RAF1	pilocytic astrocytoma								3	14					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300336	56300336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56300336C>T	ENST00000443188.1	-	11	3402	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	NLRP11_ENST00000592953.1_Missense_Mutation_p.E799K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E844K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E898K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E844K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	898							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AACATGCACTCTTCTAGCCTG	0.468000													25	59					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267433	48267433	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48267433G>A	ENST00000302329.3	+	1	826	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	260					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						TCTGCCCATAGACAAGATGGT	0.512000													26	60					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798200	14798200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14798200C>T	ENST00000261170.3	-	16	1896	c.1760G>A	c.(1759-1761)tGg>tAg	p.W587*		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	587	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTTAAACTCCCAATCCATGAA	0.323000													25	92					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124810603	124810603	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124810603G>A	ENST00000358776.4	+	9	1043	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	ACADSB_ENST00000368869.4_Silent_p.L241L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	343					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CCACCCAGCTGGAAGCTGCAA	0.458000													17	35					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141033	22141033	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22141033G>A	ENST00000344642.2	+	2	415	c.228G>A	c.(226-228)cgG>cgA	p.R76R	LDLRAD2_ENST00000543870.1_Silent_p.R76R	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	76						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CCGGCGACCGGATCCGCTTCC	0.741000													31	67					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202183	56202183	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56202183C>T	ENST00000361673.3	-	5	5449	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1746							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGATATTTTCCTTTTCTTCC	0.433000													57	119					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658741	43658741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43658741G>A	ENST00000360835.3	-	5	721	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	SCUBE1_ENST00000290460.7_Nonsense_Mutation_p.Q199*	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	199	EGF-like 4 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGTCCTTCTGGTTTTGGGCA	0.582000													6	200					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75495782	75495782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:75495782C>T	ENST00000228027.7	+	2	501	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	DGAT2_ENST00000376262.3_Intron	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	81					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCTGTCCTTCCTTGTACTGGG	0.587000													72	106					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	368771	368771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:368771C>T	ENST00000217233.3	+	2	670	c.117C>T	c.(115-117)ccC>ccT	p.P39P	TRIB3_ENST00000422053.2_Silent_p.P66P|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	39					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GAAGTGGGCCCCAGCCCAGAC	0.627000													52	117					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852892	117852892	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117852892G>A	ENST00000350763.4	-	2	817	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	TNC_ENST00000542877.1_Silent_p.L136L|TNC_ENST00000537320.1_Silent_p.L136L|TNC_ENST00000341037.4_Silent_p.L136L|TNC_ENST00000345230.3_Silent_p.L136L|TNC_ENST00000423613.2_Silent_p.L136L|TNC_ENST00000535648.1_Silent_p.L136L|TNC_ENST00000340094.3_Silent_p.L136L|TNC_ENST00000346706.3_Silent_p.L136L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	136					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCTCCCTCAGGGAAGACACC	0.612000													112	204					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956521	188956521	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:188956521G>A	ENST00000345063.3	+	4	469		c.e4-1		TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Splice_Site	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GATTCCTATAGGATAGACCAC	0.398000													38	77					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907827	103907827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:103907827C>T	ENST00000302259.3	+	1	520	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	93					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAACCAGCCTCGTGTAGACTT	0.632000													9	156					0	0	1	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45682563	45682563	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45682563C>T	ENST00000433642.2	+	2	105	c.9C>T	c.(7-9)tcC>tcT	p.S3S	BLOC1S3_ENST00000587722.1_Silent_p.S3S	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	3					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCATGGCGTCCCAGGGTCGTC	0.701000									Hermansky-Pudlak syndrome				18	24					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944818	20944818	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20944818T>G	ENST00000261383.3	-	62	12008	c.12009A>C	c.(12007-12009)caA>caC	p.Q4003H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4003					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCACTGTTTCTTGTGGGGTTA	0.468000													29	51					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629713	103629713	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103629713G>A	ENST00000428762.1	-	1	250	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	RELN_ENST00000424685.2_Missense_Mutation_p.P31S|RELN_ENST00000343529.5_Missense_Mutation_p.P31S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	31	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGCGGGGGTAATAGCCA	0.672000													21	76					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11758438	11758438	+	Missense_Mutation	SNP	C	C	T	rs147686450	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:11758438C>T	ENST00000381486.2	+	22	3737	c.3437C>T	c.(3436-3438)tCg>tTg	p.S1146L	GREB1_ENST00000234142.5_Missense_Mutation_p.S1146L|GREB1_ENST00000396123.1_Missense_Mutation_p.S144L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1146	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCGAGTCCTCGGCTCAGCCC	0.662000													29	58					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55472836	55472836	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55472836G>A	ENST00000371265.4	+	3	693	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	147						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CAGTGATGGAGGAGAAGGTGG	0.597000													36	80					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174932	193174932	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193174932T>G	ENST00000342695.4	-	16	2094	c.1772A>C	c.(1771-1773)gAa>gCa	p.E591A	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E572A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGCAATTCCTTCCACTGGGAC	0.463000													37	64					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152756	100152756	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:100152756G>A	ENST00000370575.4	-	9	918	c.870C>T	c.(868-870)ctC>ctT	p.L290L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	290							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCGCATCAGAGAGGGCACCCA	0.592000													6	94					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606577	84606577	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84606577C>T	ENST00000344803.2	+	4	1239	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGTGGCCAACCTCATAGAGCC	0.448000													20	48					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010349	32010349	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32010349C>T	ENST00000375244.3	-	40	12294	c.12093G>A	c.(12091-12093)ggG>ggA	p.G4031G	TNXB_ENST00000375247.2_Silent_p.G4029G|TNXB_ENST00000451343.1_Silent_p.G460G			P22105	TENX_HUMAN	tenascin XB	4076	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						GCATCTCCTCCCCGCAGTCCC	0.662000													11	30					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936213	38936213	+	Silent	SNP	G	G	A	rs141598286		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38936213G>A	ENST00000302328.3	-	15	2844	c.2646C>T	c.(2644-2646)ccC>ccT	p.P882P	SCN11A_ENST00000444237.2_Silent_p.P882P|SCN11A_ENST00000456224.3_Silent_p.P882P|SCN11A_ENST00000450244.1_Silent_p.P882P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	882					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)	CCATGACCAGGGGAATGATGT	0.507000													51	133					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863621	72863621	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72863621G>A	ENST00000261180.4	+	4	1360	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	422					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATACTGCTGGATCCCAGTGT	0.373000													37	53					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14788961	14788961	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14788961G>A	ENST00000380881.4	-	24	4951	c.4136C>T	c.(4135-4137)tCc>tTc	p.S1379F	FREM1_ENST00000422223.2_Missense_Mutation_p.S1378F|FREM1_ENST00000380880.3_Missense_Mutation_p.S1378F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1378					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGAGCAGGGGACCTGTTGTT	0.453000													21	7					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981670	40981670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40981670C>T	ENST00000313164.9	+	18	2886	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	843	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGCGGAAACCCAGTAGGCTCC	0.587000													9	35					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451201	110451201	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110451201G>A	ENST00000378402.5	+	32	3940	c.3836G>A	c.(3835-3837)gGa>gAa	p.G1279E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1279	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TATGTTGGAGGAAAAACCTGC	0.343000										HNSCC(38;0.096)			43	69					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726188	11726188	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11726188C>T	ENST00000262442.3	+	48	9151	c.9083C>T	c.(9082-9084)tCt>tTt	p.S3028F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3028F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3028	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCCCAGTCTTATCTGAGC	0.433000													41	88					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75495780	75495780	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:75495780T>A	ENST00000228027.7	+	2	499	c.239T>A	c.(238-240)tTc>tAc	p.F80Y	DGAT2_ENST00000376262.3_Intron	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	80					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GTCCTGTCCTTCCTTGTACTG	0.587000													65	120					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569464	58569464	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:58569464C>T	ENST00000348616.4	+	11	1886	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	CDH26_ENST00000244047.5_Missense_Mutation_p.P529L|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	529					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P529L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GACCTGGAGCCGTTCTCTGAC	0.532000													31	58					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297618	219297618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219297618G>A	ENST00000248444.5	+	13	1532	c.1444G>A	c.(1444-1446)Ggc>Agc	p.G482S	VIL1_ENST00000392114.2_Missense_Mutation_p.G171S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	482	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCCAATGGGCAAGGAGCC	0.537000													16	47					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897377	175897377	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175897377C>T	ENST00000359240.3	+	5	1371	c.701C>T	c.(700-702)tCc>tTc	p.S234F	ADAM29_ENST00000445694.1_Missense_Mutation_p.S234F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S234F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S234F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	234	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S234F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATAGTGGATTCCATTTTGGAT	0.343000													55	92					0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13681194	13681194	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:13681194C>T	ENST00000380600.1	+	2	654	c.567C>T	c.(565-567)tcC>tcT	p.S189S	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Silent_p.S189S|TCEANC_ENST00000314720.4_Silent_p.S219S|TCEANC_ENST00000545566.1_Silent_p.S189S			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	189	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTAGTTCTTCCACAGATCAAC	0.383000													5	118					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261016	158261016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158261016G>A	ENST00000368170.3	+	2	433	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	52					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATGGCTGGACGAGTTGCAGAC	0.498000													36	107					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000													13	58					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558804	47558804	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:47558804C>T	ENST00000397748.1	-	11	1337	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	FTCD_ENST00000397746.3_Missense_Mutation_p.E432K|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.E432K|FTCD_ENST00000291670.5_Missense_Mutation_p.E432K			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	432	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.E432K(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGTCCTTTTCCTCAGGTGTG	0.642000													44	104					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79189974	79189974	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:79189974G>A	ENST00000282003.6	-	6	1980	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	641	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCAGCTTGGGGGTTTGATTTC	0.383000													87	117					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284200	130284200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130284200C>T	ENST00000358511.6	+	3	1055	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.R342*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	342	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGACCCACCGAGATTCAGA	0.557000													85	188					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374243	163374243	+	Missense_Mutation	SNP	C	C	T	rs138611881		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163374243C>T	ENST00000332142.5	-	4	988	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.E297K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	297					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AACATACCTTCGCTGGCATGT	0.348000													13	59					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64586252	64586252	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:64586252C>T	ENST00000357395.3	+	68	13247	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	SYNE2_ENST00000358025.3_Silent_p.S4316S|SYNE2_ENST00000344113.4_Silent_p.S4316S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.S701S|SYNE2_ENST00000553455.1_Silent_p.S35S|SYNE2_ENST00000554584.1_Silent_p.S4331S|SYNE2_ENST00000555002.1_Silent_p.S950S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4316					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCGCTTTCCCTGAAACTGA	0.428000													47	59					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427439	27427439	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27427439G>A	ENST00000310574.3	-	9	1368	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	SLC5A6_ENST00000408041.1_Missense_Mutation_p.P299S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	299					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGCTGGAAGGGGAACACTGCA	0.582000													10	100					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25206189	25206189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:25206189C>T	ENST00000360031.2	+	15	1590	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_3'UTR|ENTPD6_ENST00000354989.5_Missense_Mutation_p.H454Y|ENTPD6_ENST00000376652.4_Missense_Mutation_p.H471Y	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	471						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGCCATTTTTCATTACATCGA	0.527000													87	170					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019590	110019590	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110019590C>T	ENST00000369872.3	+	4	663	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SYPL2_ENST00000401021.3_Silent_p.F149F	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	149	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACAAACGCTTCCCGCTGGTGG	0.522000													19	39					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618337	37618337	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37618337C>T	ENST00000337995.3	+	5	659	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ZNF420_ENST00000304239.7_Silent_p.F148F|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTCAGACGAGCCT	0.393000													31	73					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917242	97917242	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:97917242C>T	ENST00000534948.1	+	0	2020							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCCCCTGAATCAGAGTCAGAG	0.438000													21	49					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22653932	22653932	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:22653932C>T	ENST00000376603.2	+	3	642	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SPAG6_ENST00000313311.6_Missense_Mutation_p.S91L|SPAG6_ENST00000538630.1_Missense_Mutation_p.S66L|SPAG6_ENST00000376624.3_Missense_Mutation_p.S91L|SPAG6_ENST00000376601.1_Missense_Mutation_p.S91L|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	91					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTTGTTTATTCATTGGCAGAA	0.363000													22	55					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47399884	47399884	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47399884C>T	ENST00000378538.3	-	1	243	c.21G>A	c.(19-21)atG>atA	p.M7I	SPI1_ENST00000533968.1_Missense_Mutation_p.M7I|SPI1_ENST00000533030.1_Missense_Mutation_p.M7I|SPI1_ENST00000227163.4_Missense_Mutation_p.M7I	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	7					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GAAACCCTTCCATTTTGCACG	0.682000													12	23					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146744671	146744671	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:146744671G>A	ENST00000508784.1	-	8	2513	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	ZNF827_ENST00000379448.4_Silent_p.F762F|ZNF827_ENST00000513320.1_Silent_p.F412F			Q17R98	ZN827_HUMAN	zinc finger protein 827	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTCTGAAAAGAAAGGGCTGG	0.443000													19	57					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282567	117282567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117282567G>A	ENST00000003084.6	+	23	3925	c.3793G>A	c.(3793-3795)Gga>Aga	p.G1265R	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.G1204R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1265	ABC transporter 2.				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|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain 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)	GAACACTGAAGGAGAAATCCA	0.443000									Cystic Fibrosis				41	121					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487012	63487012	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63487012C>T	ENST00000377819.5	+	3	1192	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.P327P|RTN3_ENST00000540798.1_Silent_p.P234P|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	346					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATCTGGTTCCCCAAGTGAAAC	0.393000													23	50					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071440	10071440	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10071440C>T	ENST00000264828.3	-	66	5063	c.4978G>A	c.(4978-4980)Gaa>Aaa	p.E1660K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1660	Fibrillar collagen NC1.				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)			CCCGTGGCTTCGTCCAGCCAG	0.592000													53	81					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119593017	119593017	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:119593017G>A	ENST00000409003.4	-	2	257	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SAMD12_ENST00000314727.4_Silent_p.F43F	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	43										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GCACCTTCTGGAAATTTTTAT	0.438000													34	78					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536649	130536649	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130536649C>T	ENST00000314830.8	-	2	248	c.135G>A	c.(133-135)ttG>ttA	p.L45L		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	45					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTCAGGCTCCAAATGGGACT	0.557000													6	107					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53073623	53073623	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53073623G>A	ENST00000252244.3	-	1	568	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	170	Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGATCTCAGGGTCAATCTCCA	0.483000													5	165					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42126976	42126976	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42126976C>T	ENST00000221954.2	-	4	677	c.567G>A	c.(565-567)agG>agA	p.R189R	CEACAM4_ENST00000600925.1_Silent_p.R187R	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	189						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GCGGCTGCTCCCTGAGGTCAC	0.607000													5	72					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897465	175897465	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175897465G>A	ENST00000359240.3	+	5	1459	c.789G>A	c.(787-789)agG>agA	p.R263R	ADAM29_ENST00000445694.1_Silent_p.R263R|ADAM29_ENST00000404450.4_Silent_p.R263R|ADAM29_ENST00000514159.1_Silent_p.R263R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	263	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGATGTAAGGAAATCTGTGC	0.403000													57	141					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045901	73045901	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:73045901C>T	ENST00000604411.1	+	0	33862				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCACAGTCACCCTTTCCATAA	0.522000													51	49					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361407	105361407	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:105361407C>T	ENST00000297581.2	+	2	676	c.627C>T	c.(625-627)tcC>tcT	p.S209S	DCSTAMP_ENST00000517991.1_Silent_p.S209S|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	209					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGTTGTCCTCCCTGGGTCAGA	0.542000													21	159					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171249946	171249946	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171249946G>A	ENST00000354841.4	+	5	780	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	FMO1_ENST00000367750.3_Missense_Mutation_p.G217R|FMO1_ENST00000402921.2_Missense_Mutation_p.G154R|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	217					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCACCGGAGGGGGATGGGT	0.522000													47	61					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741088	96741088	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96741088G>A	ENST00000260682.6	+	7	1122	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	370					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCCATGCAGTGACCTGTGACA	0.483000													66	110					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976883	10976883	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10976883G>A	ENST00000254488.2	+	13	1810	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	582					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACACTGCCCGAGGTGAGACC	0.647000													39	137					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322091	52322091	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52322091C>T	ENST00000356297.4	-	17	2193	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	PXDNL_ENST00000543296.1_Missense_Mutation_p.R698H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	698					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)				GCTGAGGGAGCGCGGGGACAC	0.612000													23	43					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184791	201184791	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201184791G>A	ENST00000335211.4	+	15	9250	c.9120G>A	c.(9118-9120)agG>agA	p.R3040R	IGFN1_ENST00000295591.8_Silent_p.R200R|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGCCTGGAGGAAGGACGGGG	0.642000													30	45					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902319	23902319	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23902319C>T	ENST00000355349.3	-	4	481	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	107	Myosin head-like.		D -> E (in dbSNP:rs2754166).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGTAGCGATCCTTGAGGTTG	0.572000													31	85					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919183	8919183	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:8919183G>A	ENST00000256707.3	-	19	2638	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	KIDINS220_ENST00000418530.1_Silent_p.L777L|KIDINS220_ENST00000427284.1_Silent_p.L819L|KIDINS220_ENST00000319688.5_Silent_p.L820L|KIDINS220_ENST00000473731.1_Silent_p.L819L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	819	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCACACTATTGAGGTTCTGGT	0.418000													95	189					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179594547C>T	ENST00000589042.1	-	63	18657	c.18433G>A	c.(18433-18435)Gaa>Aaa	p.E6145K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5828K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4901K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5828	Ig-like 42.						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)			GCTGTTATTTCATTCCCGTCT	0.428000													39	59					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886248	29886248	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29886248G>A	ENST00000310624.6	+	4	2652	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	879	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGCCCAAGGTGGAGGAGA	0.507000													18	33					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841652	8841652	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8841652G>A	ENST00000324060.2	+	1	337	c.262G>A	c.(262-264)Gga>Aga	p.G88R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTCTGCGGGGAGAAGGTGC	0.542000													4	112					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60580162	60580162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:60580162C>T	ENST00000373886.3	+	20	2732	c.2728C>T	c.(2728-2730)Cag>Tag	p.Q910*		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	910	SAM.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCTCACAGATCAGGATCTGAA	0.373000													9	110					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120799612	120799612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:120799612C>T	ENST00000263713.5	+	3	425	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.Q71*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	71	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GTTGTTTGATCAGATTATGTA	0.353000													35	75					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435999	158435999	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158435999C>T	ENST00000289451.2	+	1	728	c.648C>T	c.(646-648)gtC>gtT	p.V216V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTATCCTAGTCTCCTACATCC	0.478000													46	165					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869295	200869295	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200869295C>T	ENST00000367342.4	+	4	699	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R82C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	167										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCCAAGGTTCGCCGCAGGAT	0.617000													52	47					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220356	55220356	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55220356C>T	ENST00000413439.1	+	0	523																											CGGGGGAGGTCTGTGGACCCC	0.597000													8	9					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30928886	30928886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:30928886G>A	ENST00000383096.3	-	8	607	c.425C>T	c.(424-426)cCa>cTa	p.P142L	CCDC178_ENST00000406524.2_Missense_Mutation_p.P142L|CCDC178_ENST00000402325.1_Missense_Mutation_p.P142L|CCDC178_ENST00000300227.8_Missense_Mutation_p.P142L|CCDC178_ENST00000583930.1_Missense_Mutation_p.P142L|CCDC178_ENST00000403303.1_Missense_Mutation_p.P142L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.P142L					coiled-coil domain containing 178																		CTCTTTCACTGGTGTAGTTAC	0.338000													19	57					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451385	55451385	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55451385C>T	ENST00000446217.1	-	6	1288	c.886G>A	c.(886-888)Gac>Aac	p.D296N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D268N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D268N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D268N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D268N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D268N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D268N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	268	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCGCAGATGTCCTGGATCAGC	0.582000													58	84					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					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						GTCCCTCTACGAAATTCCTGT	0.408000													4	141					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91551104	91551104	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91551104A>C	ENST00000333371.3	-	7	847	c.494T>G	c.(493-495)tTt>tGt	p.F165C	VPS33B_ENST00000535843.1_Missense_Mutation_p.F74C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F138C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	165					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTTACCAGAAAGTAATCCCT	0.483000													15	182					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172225	64172225	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:64172225A>G	ENST00000262150.2	-	12	2435	c.2143T>C	c.(2143-2145)Ttt>Ctt	p.F715L		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	715					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGGGAATCAAAAGGAGGGGCA	0.478000													6	117					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60864293	60864293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:60864293C>T	ENST00000313733.3	+	12	1358	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	OSBPL2_ENST00000358053.2_Missense_Mutation_p.L374F|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	386					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACTGTGAGCCTCAACGAGCT	0.587000													20	46					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602626	219602626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219602626C>T	ENST00000392102.1	+	3	567	c.227C>T	c.(226-228)cCc>cTc	p.P76L	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.P76L|TTLL4_ENST00000258398.4_Missense_Mutation_p.P76L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	76					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GGCGTCCCACCCCAGCCAGCA	0.567000													5	242					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31113004	31113004	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:31113004G>A	ENST00000597505.1	-	15	2172	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTCTGATAGGATGACCAATA	0.388000													6	21					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967960	93967960	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:93967960C>T	ENST00000369303.4	-	11	2151	c.1967G>A	c.(1966-1968)gGg>gAg	p.G656E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					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)		ATCTCTTTTCCCTGGAAGTTT	0.383000													116	75					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097836	175097836	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175097836C>T	ENST00000239462.4	+	15	3397	c.3284C>T	c.(3283-3285)cCc>cTc	p.P1095L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1095	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCAGCCGGCCCCTGCAGGTG	0.602000													73	78					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885833	88885833	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:88885833G>A	ENST00000319675.3	-	1	463	c.367C>T	c.(367-369)Cct>Tct	p.P123S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	123										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCGATTAGGGACGTAGAGG	0.552000													68	116					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941764	52941764	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52941764G>A	ENST00000332323.6	+	4	1151	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E351K|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCATACTGGAGAGAGACCATA	0.418000													4	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428324	179428324	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179428324T>G	ENST00000589042.1	-	326	82759	c.82535A>C	c.(82534-82536)gAa>gCa	p.E27512A	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18572A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25871A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24944A|TTN_ENST00000460472.2_Missense_Mutation_p.E18447A|TTN_ENST00000342175.6_Missense_Mutation_p.E18639A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25871	Fibronectin type-III 100.						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)			TCTAACGCCTTCCTTATCTCG	0.463000													64	139					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10370060	10370060	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10370060C>T	ENST00000255381.2	-	3	113	c.3G>A	c.(1-3)atG>atA	p.M1I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						AGTCAGAACTCATGGCTGCAG	0.468000													63	66					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33682433	33682433	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:33682433C>T	ENST00000321505.4	+	19	5321	c.5141C>T	c.(5140-5142)gCc>gTc	p.A1714V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1720V					KIAA1549-like																		GCAGTGTTCGCCATCCCAGCT	0.552000													9	40					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460096	107460096	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107460096G>A	ENST00000409382.3	-	2	948	c.338C>T	c.(337-339)tCa>tTa	p.S113L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S113L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S113L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	113					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACCTGGGATGAAAAAAACTC	0.562000													71	153					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408898	47408898	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:47408898C>T	ENST00000295454.3	+	8	1327	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	GABRB1_ENST00000538619.1_Silent_p.D275D	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	345					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCAAACAAGACCAGAGTGCCA	0.373000													4	110					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336429	70336429	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:70336429G>A	ENST00000338508.4	-	30	2505	c.2506C>T	c.(2506-2508)Ccg>Tcg	p.P836S	SHANK2_ENST00000423696.2_Missense_Mutation_p.P456S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P239S|SHANK2_ENST00000449116.2_Missense_Mutation_p.P237S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P240S|SHANK2_ENST00000357171.3_Missense_Mutation_p.P247S|SHANK2_ENST00000409530.1_Missense_Mutation_p.P246S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	456					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCAGAAACGGGGCTTTTGGG	0.567000													45	104					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115527194	115527194	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115527194C>T	ENST00000361048.1	+	5	642	c.315C>T	c.(313-315)tcC>tcT	p.S105S	PLEKHS1_ENST00000369312.4_Silent_p.S17S|PLEKHS1_ENST00000369310.3_Silent_p.S99S	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGGTCATGTCCATCAGAACCA	0.403000													18	34					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698565	43698565	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43698565C>T	ENST00000405312.3	-	5	1407	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	PSG4_ENST00000244295.9_Silent_p.G297G|PSG4_ENST00000433626.2_Silent_p.G297G	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	390	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)				AAGCATAGAGCCCACTATGCT	0.458000													147	290					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735279	30735279	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30735279G>A	ENST00000262518.4	+	25	4919	c.4534G>A	c.(4534-4536)Gct>Act	p.A1512T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1354T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1450T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1512	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTTGGCCACAGCTCCATCCCT	0.582000													31	53					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109661375	109661375	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:109661375G>A	ENST00000356711.2	+	22	2633	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	MYO16_ENST00000251041.5_Missense_Mutation_p.G836E|MYO16_ENST00000357550.2_Missense_Mutation_p.G836E|MYO16_ENST00000457511.2_Missense_Mutation_p.G348E	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	836					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AACCAGAATGGAGTTTTGGAC	0.353000													23	43					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22563733	22563733	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:22563733C>T	ENST00000550753.1	+	0	1388					NR_003676.2																						CAAGCAGCTTCCAAGATGGCC	0.438000													34	198					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40095007	40095007	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40095007C>T	ENST00000591658.1	+	0	891							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCATTACATCCTCAAGAGCCT	0.577000													45	96					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609750	32609750	+	Splice_Site	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32609750G>C	ENST00000343139.5	+	3	435	c.331_splice	c.e3-1	p.E111_splice	HLA-DQA1_ENST00000395363.1_Splice_Site_p.E111_splice|HLA-DQA1_ENST00000374949.2_Splice_Site_p.E111_splice	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	110	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCACCACAGAGGTTCCTGAGG	0.512000													14	47					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805857	169805857	+	Missense_Mutation	SNP	C	C	T	rs148835131	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:169805857C>T	ENST00000274629.4	-	4	869	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	143					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACGCTGGTTTCGTTCCCCCGA	0.617000													23	49					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119093530	119093530	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:119093530G>A	ENST00000328252.3	+	11	3524	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	PAPPA_ENST00000534838.1_Missense_Mutation_p.R90Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1052					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.R1052Q(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGGTGTGTCGAACCAAGGTG	0.398000													28	37					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467063	21467063	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:21467063C>T	ENST00000281523.2	-	6	1291	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	258						nucleus	nucleic acid binding|zinc ion binding	p.G258E(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCCTGTGTTTCCTTTATTAAC	0.438000													37	89					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43604200	43604200	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43604200G>A	ENST00000360835.3	-	20	2738	c.2612C>T	c.(2611-2613)aCc>aTc	p.T871I		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	871	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTCTGGCAGGTCTCATAGGT	0.602000													56	114					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95625376	95625376	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:95625376C>T	ENST00000324972.6	+	10	1204	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	DYNC1I1_ENST00000537881.1_Silent_p.F300F|DYNC1I1_ENST00000457059.1_Silent_p.F320F|DYNC1I1_ENST00000447467.2_Silent_p.F320F|DYNC1I1_ENST00000359388.4_Silent_p.F300F|DYNC1I1_ENST00000437599.1_Silent_p.F317F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	337					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AATACGTCTTCCACTGTCAGG	0.428000													43	192					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482722	482722	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:482722C>T	ENST00000264938.3	-	7	1306	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E433K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	433						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGTTCTTCTCCTTGACCTTG	0.642000													38	90					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22652919	22652919	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:22652919C>T	ENST00000400546.1	+	2	326	c.77C>T	c.(76-78)tCa>tTa	p.S26L	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.S51L|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	26	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGACAATTTCACTTAGCAAA	0.323000													9	23					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534369	47534369	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47534369G>A	ENST00000334194.3	+	2	256	c.253G>A	c.(253-255)Gga>Aga	p.G85R		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	85						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.G85R(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTTGTGGGTTGGACCCTTTAC	0.443000													61	151					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47233819	47233819	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:47233819C>T	ENST00000319190.5	+	10	1611	c.1243C>T	c.(1243-1245)Cac>Tac	p.H415Y	TTC7A_ENST00000409245.1_Missense_Mutation_p.H381Y|TTC7A_ENST00000394850.2_Missense_Mutation_p.H415Y|TTC7A_ENST00000263737.6_Missense_Mutation_p.H61Y|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	415							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGAGAATTTCACCTTTGGTA	0.617000													30	69					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117817154	117817154	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:117817154G>A	ENST00000276204.6	+	52	6150	c.6076G>A	c.(6076-6078)Gaa>Aaa	p.E2026K	DOCK11_ENST00000276202.7_Missense_Mutation_p.E2026K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2026	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATGGTAAAAGAATTATCTGA	0.378000													75	24					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906516	48906516	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:48906516G>A	ENST00000394754.1	+	11	3598	c.3484G>A	c.(3484-3486)Ggt>Agt	p.G1162S	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G424S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1162S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G458S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1162S|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1115S	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1115					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGAAAGATGGTGTTATGTG	0.358000													29	73					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87482774	87482774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87482774C>T	ENST00000327946.7	-	12	2068	c.1983G>A	c.(1981-1983)atG>atA	p.M661I	GRID1_ENST00000536331.1_Missense_Mutation_p.M232I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	661						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGGGTTGTCCATCCTGGACA	0.537000										Multiple Myeloma(13;0.14)			15	31					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498549	75498549	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75498549G>A	ENST00000360639.2	+	2	480	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	C15orf39_ENST00000394987.4_Missense_Mutation_p.G54S|C15orf39_ENST00000567617.1_Missense_Mutation_p.G54S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	54										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCATGGCAGGTACTCCTAA	0.597000													23	53					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056318	102056318	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:102056318C>T	ENST00000549145.1	+	20	2279	c.2179C>T	c.(2179-2181)Cct>Tct	p.P727S	MYBPC1_ENST00000547405.1_Missense_Mutation_p.P688S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P702S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P615S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P739S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P700S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P739S|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P714S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P695S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P701S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P714S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P714S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	714	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCCTTTTGTTCCTTTGGGTAA	0.498000													35	65					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954412	75954412	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75954412G>A	ENST00000274364.6	+	21	2746	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	IQGAP2_ENST00000502745.1_Missense_Mutation_p.A313T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A313T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A319T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	817					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAAGATCAGGGCCAATCAACA	0.458000													9	111					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985899	61985899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:61985899G>A	ENST00000409186.1	-	5	4438	c.2333C>T	c.(2332-2334)gCt>gTt	p.A778V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A778V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	751	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGCTATGACAGCATTCATGCC	0.473000													34	30					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436086	158436086	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158436086C>T	ENST00000289451.2	+	1	815	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTCCCATCTCATTGTGGTAA	0.438000													42	108					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956100	42956100	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42956100C>T	ENST00000541208.1	+	5	904	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.L205F|ZNF662_ENST00000440367.2_Missense_Mutation_p.L179F|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAATAACCTCCTTGGTATACA	0.348000													27	59					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650626	232650626	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:232650626G>A	ENST00000366630.1	-	2	818	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H154Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	154					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTATGGGGTGAAGTCCTCTT	0.502000													57	173					0	0	1	0	0
TPGS1	91978	broad.mit.edu	37	19	519020	519020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:519020C>T	ENST00000359315.5	+	2	678	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	157					multicellular organismal development	axon|centrosome|cilium axoneme|dendrite|flagellar axoneme|microtubule|microtubule basal body											GGCCAAGCCCCCGAGGAGGTG	0.726000													6	11					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748817	62748817	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62748817C>T	ENST00000377871.3	-	5	1102	c.836G>A	c.(835-837)gGg>gAg	p.G279E	SLC22A6_ENST00000421062.2_Missense_Mutation_p.G279E|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.G279E|SLC22A6_ENST00000458333.2_Missense_Mutation_p.G279E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	279					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			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						GTCCAGCCTCCCGGAGGAGGA	0.637000													5	11					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26181414	26181414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26181414C>T	ENST00000335473.7	+	11	2582	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q778*|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q778*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	778	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GAACCTGCACCAGATGGCAGA	0.617000													9	18					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70280920	70280920	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:70280920G>A	ENST00000374274.3	-	4	551	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SNX12_ENST00000276105.3_Silent_p.F141F|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	145	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					CCTCTTGCAGGAACATGTGTA	0.498000													11	6					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634728	70634728	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70634728G>A	ENST00000381269.2	-	2	1165	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	SLC8A3_ENST00000357887.3_Missense_Mutation_p.L138F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.L138F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.L138F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.L138F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	138					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGGCCATAAGGGTCAGGTTG	0.488000													4	88					0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44282486	44282486	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44282486G>C	ENST00000398208.2	-	5	531	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.R158G	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	158					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGGATGAAGCGGTCATCAGGA	0.587000													6	21					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190796	62190796	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62190796G>A	ENST00000371180.2	-	1	299	c.183C>T	c.(181-183)tcC>tcT	p.S61S	TM2D1_ENST00000294613.5_5'UTR|TM2D1_ENST00000606498.1_5'UTR|TM2D1_ENST00000371177.2_5'UTR	NM_032027.2	NP_114416.1	Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	0					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CCGCCATCTTGGAGACCGACA	0.637000													31	71					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192074	22192074	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22192074C>T	ENST00000390425.2	+	0	115																											GGCCATATCTCCAGCAGAGGT	0.612000													41	62					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12430169	12430169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12430169G>A	ENST00000293725.5	-	4	875	c.670C>T	c.(670-672)Ccg>Tcg	p.P224S	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATTCATACGGTTTCTCTCCA	0.398000													75	216					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490437	58490437	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58490437C>T	ENST00000341164.4	-	7	2231	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	ZNF606_ENST00000536132.1_Silent_p.E447E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGGTTTCTCTCCAGTAT	0.388000													7	84					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310815	22310815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22310815C>T	ENST00000337107.6	+	6	652	c.633C>T	c.(631-633)tcC>tcT	p.S211S	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	211	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACATCCGCTCCGGCTGCAATG	0.607000													38	80					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360653	149360653	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149360653G>A	ENST00000286298.4	+	3	1765	c.1497G>A	c.(1495-1497)agG>agA	p.R499R		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	499						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTAAATTTAGGGATCTTCCCA	0.408000													5	208					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141474279	141474279	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141474279C>T	ENST00000389484.3	-	36	6836	c.5865G>A	c.(5863-5865)gtG>gtA	p.V1955V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1955					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)		CTATCCCTTCCACTCTTCCCA	0.388000										TSP Lung(27;0.18)			4	142					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44871449	44871449	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:44871449C>T	ENST00000374426.2	-	4	335	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CCTATCTTTTCTTTTTTCCCC	0.393000													42	126					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667448	133667448	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133667448G>A	ENST00000310926.4	-	8	1310	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S270F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	346					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAGGAAGGTGGAGAGGCCAGC	0.567000													79	135					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503965	71503965	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:71503965G>A	ENST00000265382.3	+	7	692	c.387G>A	c.(385-387)gtG>gtA	p.V129V	PIP5K1B_ENST00000541509.1_Silent_p.V129V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	129	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGTTTTTTGTGACCAGTGATG	0.383000													35	96					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54306001G>A	ENST00000545554.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E301K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E301K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	301					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTCGGAGGGAAACTAGAGA	0.428000													41	107					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505460	32505460	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32505460A>T	ENST00000520502.2	+	1	224	c.224A>T	c.(223-225)aAa>aTa	p.K75I	NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	286	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AACTCAGAGAAAATCTGCATT	0.567000													46	117					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663675	103663675	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:103663675G>A	ENST00000395884.3	-	3	1754	c.852C>T	c.(850-852)ccC>ccT	p.P284P	KLF10_ENST00000285407.6_Silent_p.P295P	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	295					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTGGCTGGCTGGGAGGAGTGC	0.587000													34	67					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533642	88533642	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:88533642G>A	ENST00000399271.1	+	4	424	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E102K	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	102					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATTAGCAAACGAAGAGGGGAA	0.443000													25	29					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940356	144940356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144940356G>A	ENST00000525985.1	-	2	7137	c.7066C>T	c.(7066-7068)Cgc>Tgc	p.R2356C				P58107	EPIPL_HUMAN	epiplakin 1	2356						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGGCACGCGGTGGCTGTGC	0.697000													45	682					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34951441	34951441	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:34951441C>T	ENST00000439527.2	+	14	1678	c.1180C>T	c.(1180-1182)Cta>Tta	p.L394L	UBA2_ENST00000592791.1_Silent_p.L16L|UBA2_ENST00000246548.4_Silent_p.L490L			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	490					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGGAACAATCCTAATATCTTC	0.343000													14	24					0	0	1	0	0
PTGES3	10728	broad.mit.edu	37	12	57064070	57064070	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57064070G>A	ENST00000262033.6	-	5	664	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000456859.2_Missense_Mutation_p.R86C|PTGES3_ENST00000448157.2_Missense_Mutation_p.R122C|PTGES3_ENST00000436399.2_Missense_Mutation_p.R89C|PTGES3_ENST00000414274.3_Intron	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	122	Asp/Glu-rich.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						TCAGAGAAACGATCAAAATTA	0.373000													19	47					0	0	1	0	0
LOC100506136	100506136	broad.mit.edu	37	7	96251800	96251800	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:96251800C>T	ENST00000606019.1	-	0	745					NR_038948.1																						GTAGTATTTTCCTTTCTATCT	0.388000													8	9					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677786	40677786	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:40677786G>A	ENST00000298910.7	+	19	2409	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N	LRRK2_ENST00000343742.2_Missense_Mutation_p.S784N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	784					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGGTGACAGCCAGATCATC	0.453000													54	77					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211558	78211558	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78211558C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGGAGCTTTCCCTCCAGACC	0.577000													23	184					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289148	38289148	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38289148G>A	ENST00000436911.2	-	0	25																											TGGGCTTGGGGGAAACATCTG	0.378000													36	280					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2748752	2748752	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2748752G>A	ENST00000312371.4	+	5	1013	c.645G>A	c.(643-645)ccG>ccA	p.P215P	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	215							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGGAATTCCCGAAGTCGGGGC	0.682000													17	36					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002224	98002224	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98002224G>A	ENST00000355273.2	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CTTAATTCATGAAGTCCTTAT	0.348000													31	78					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817129	82817129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82817129C>T	ENST00000265077.3	+	7	3569	c.3004C>T	c.(3004-3006)Caa>Taa	p.Q1002*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.Q954*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.Q1002*|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1002	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAACCCTCTCAAGACATACT	0.423000													22	59					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76484416	76484416	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76484416C>T	ENST00000388942.3	+	9	1152	c.876C>T	c.(874-876)agC>agT	p.S292S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	292						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCCGCGCAGCCGCTTCAAAG	0.726000													5	18					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996150	120996150	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120996150C>T	ENST00000392793.1	+	8	1614	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	TECTA_ENST00000264037.2_Missense_Mutation_p.S448F			O75443	TECTA_HUMAN	tectorin alpha	448	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTCCATTTCCGTCCCAGGC	0.507000													197	161					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59430425	59430425	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59430425G>A	ENST00000288235.4	-	27	3621	c.3222C>T	c.(3220-3222)gcC>gcT	p.A1074A		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1074	SH3.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TAATGTCATTGGCATTAAAGC	0.502000											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	176					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607563	42607563	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42607563G>A	ENST00000359486.3	-	1	3885	c.3749C>T	c.(3748-3750)cCc>cTc	p.P1250L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1250L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATGATTAAGGGGTTTTGAGA	0.463000													39	69					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10429999	10429999	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10429999C>T	ENST00000397077.1	-	8	1444	c.869G>A	c.(868-870)gGg>gAg	p.G290E	ATP2B2_ENST00000352432.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G290E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	290					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCAGCCCCCAGGAGGGT	0.507000													89	197					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109308786	109308786	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:109308786G>A	ENST00000436639.2	-	10	2362	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	SESN1_ENST00000302071.2_Silent_p.L414L|SESN1_ENST00000356644.7_Silent_p.L480L	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	480					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAGCATAAAGGAGTTCTGCTT	0.383000													89	38					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719737	41719737	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41719737C>T	ENST00000400454.1	-	6	1547	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	357	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATTTTTTCCAGGGTTGAG	0.507000													105	199					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44892043	44892043	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44892043C>T	ENST00000330997.4	-	4	428	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ZNF285_ENST00000591679.1_Missense_Mutation_p.E129K|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E122K	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACATAGTTTTCATTTTCAGAA	0.408000													60	105					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101805037	101805037	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:101805037G>A	ENST00000360035.2	+	0	145					NR_002216.1															endometrium(2)|lung(8)	10						GGAGGTTAAGGGGGATCCTGA	0.537000													6	128					0	0	1	0	0
OR7E47P	26628	broad.mit.edu	37	12	52501238	52501238	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52501238G>A	ENST00000546390.1	+	0	637																											TGGTGCTGGGGAACCTGCTCA	0.557000													11	22					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700977	136700977	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:136700977C>T	ENST00000445907.2	+	3	1893	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L455L|CHRM2_ENST00000453373.1_Silent_p.L455L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.L455L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L455L|CHRM2_ENST00000401861.1_Silent_p.L455L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	455					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AACACCTTCTCATGTGTCATT	0.408000													59	143					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13189451	13189451	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13189451G>A	ENST00000397661.2	+	7	1210	c.980G>A	c.(979-981)gGa>gAa	p.G327E	NFIX_ENST00000585575.1_Missense_Mutation_p.G319E|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000358552.3_Intron|NFIX_ENST00000588228.1_Missense_Mutation_p.G280E|NFIX_ENST00000587760.1_Missense_Mutation_p.G319E|NFIX_ENST00000587260.1_Missense_Mutation_p.G326E|NFIX_ENST00000592199.1_Missense_Mutation_p.G327E	NM_002501.2	NP_002492.2	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	327					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AAGAAGTCAGGAAAGCTGGAC	0.642000													6	8					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119201	3119201	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3119201G>A	ENST00000304094.1	+	1	287	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTTTGGGGGATGCCTAACG	0.493000													51	93					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235602	102235602	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:102235602T>C	ENST00000376180.3	+	6	983	c.764T>C	c.(763-765)gTt>gCt	p.V255A	ITGBL1_ENST00000545560.2_Missense_Mutation_p.V114A|ITGBL1_ENST00000376162.3_Missense_Mutation_p.V162A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	255	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCACGATGTTGATCCGACT	0.438000													10	174					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262422	158262422	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158262422T>A	ENST00000368170.3	+	4	926	c.647T>A	c.(646-648)cTt>cAt	p.L216H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	216	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CGCCCCAGCCTTGGGTCTGGC	0.527000													8	118					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653221	1653221	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1653221G>A	ENST00000252804.4	-	17	2381	c.2331C>T	c.(2329-2331)acC>acT	p.T777T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	777					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCCCCGAGGGGTGTTGAAGC	0.652000													51	88					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499725	104499725	+	Silent	SNP	G	G	A	rs138555829	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104499725G>A	ENST00000361820.3	-	1	1137	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	179					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTTGCAGGAAGGAGAAAGGGT	0.592000													24	67					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1509187	1509187	+	Splice_Site	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1509187G>T	ENST00000382745.4	-	7	1201	c.594_splice	c.e7-1	p.P199_splice	CLCN7_ENST00000262318.8_Splice_Site_p.P175_splice|CLCN7_ENST00000448525.1_Splice_Site_p.P175_splice	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCAGCCACCGGCTGAAAGAG	0.662000													23	38					3.6726e-16	3.70437e-16	1	1	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489462	99489462	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99489462C>T	ENST00000602289.1	+	0	451																											AACTGGCAGACTCTGAAGATG	0.478000													10	31					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11016097	11016097	+	Missense_Mutation	SNP	C	C	T	rs141713994		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:11016097C>T	ENST00000324288.8	+	17	3356	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	CIITA_ENST00000381835.5_Missense_Mutation_p.R491W	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1075					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGTGTCCCTCCGGGTGATGGA	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								69	175					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23718361	23718361	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23718361G>A	ENST00000256797.4	-	5	658	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ERN2_ENST00000457008.2_Missense_Mutation_p.P116S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	116					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCGGCAGGGAGAGGCATGA	0.552000													24	50					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21871192	21871192	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21871192G>A	ENST00000399982.2	-	17	3762	c.3698C>T	c.(3697-3699)cCa>cTa	p.P1233L	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.P954L|CHD8_ENST00000557364.1_Missense_Mutation_p.P1233L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1233	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCATTTTGTGGATTCCAGTC	0.413000													25	57					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142002	115142002	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115142002G>A	ENST00000393274.1	-	16	2801	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S	DENND2C_ENST00000393276.3_Missense_Mutation_p.P669S|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	726	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGGACTGGGATATAGGTA	0.493000													8	91					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339034	36339034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36339034G>A	ENST00000378910.5	-	11	1348	c.1349C>T	c.(1348-1350)cCa>cTa	p.P450L	NPHS1_ENST00000353632.6_Missense_Mutation_p.P450L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	450	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGCCCTCTGGGGGACCCTC	0.617000													54	102					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102364591	102364591	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:102364591G>A	ENST00000438793.3	+	25	3214	c.2743_splice	c.e25-1	p.G915_splice	PAM_ENST00000348126.2_Splice_Site_p.G808_splice|PAM_ENST00000455264.2_Splice_Site_p.G847_splice|PAM_ENST00000379787.4_Intron|PAM_ENST00000304400.7_Splice_Site_p.G916_splice|PAM_ENST00000346918.2_Splice_Site_p.G829_splice|PAM_ENST00000274392.9_Splice_Site_p.G817_splice	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	915					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTTTTTCAGGAAAGGGAAGT	0.423000													5	85					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984002	2984002	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2984002G>A	ENST00000396946.4	-	5	931	c.528C>T	c.(526-528)ttC>ttT	p.F176F	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	176					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACCGCTCCTGGAAGGTTAGCA	0.577000			Mis		DLBCL								7	164					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674503	71674503	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:71674503G>A	ENST00000299952.4	+	3	849	c.806G>A	c.(805-807)gGt>gAt	p.G269D	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	272	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGATATACGGTGGCGTGGCT	0.567000													6	51					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788082	3788082	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:3788082C>T	ENST00000440314.2	-	6	996	c.524_splice	c.e6+1	p.D175_splice	EFCAB4B_ENST00000252322.1_Splice_Site_p.D175_splice|EFCAB4B_ENST00000444507.1_Splice_Site_p.D175_splice	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	175					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ACCACTTACTCTTCCAACACC	0.507000													48	123					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928263	147928263	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147928263C>T	ENST00000360693.3	-	4	459	c.321G>A	c.(319-321)tcG>tcA	p.S107S	HTR4_ENST00000377888.3_Silent_p.S107S|HTR4_ENST00000520514.1_Silent_p.S107S|HTR4_ENST00000362016.2_Silent_p.S107S|HTR4_ENST00000314512.6_Silent_p.S107S|HTR4_ENST00000354217.2_Silent_p.S107S|HTR4_ENST00000521735.1_Silent_p.S107S|HTR4_ENST00000517929.1_Silent_p.S107S|HTR4_ENST00000521530.1_Silent_p.S107S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	107					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTGAAAAATCGATGCCGTTG	0.488000													14	21					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779778	36779778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36779778G>A	ENST00000416516.2	-	2	863	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	125						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCCAAGATGCTTCTCT	0.572000													6	319					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012886	73012886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:73012886G>A	ENST00000308744.6	+	4	1024	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	NPFFR2_ENST00000358749.3_Missense_Mutation_p.R207Q|NPFFR2_ENST00000395999.1_Missense_Mutation_p.R210Q|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	309					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R309Q(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TACTGGTGCCGGGAAGACTGG	0.453000													36	70					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065117	51065117	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:51065117G>A	ENST00000547307.1	-	4	1155	c.750C>T	c.(748-750)tcC>tcT	p.S250S	ARSA_ENST00000216124.5_Silent_p.S252S|ARSA_ENST00000547805.1_Silent_p.S250S|ARSA_ENST00000453344.2_Silent_p.S166S|ARSA_ENST00000395619.3_Silent_p.S252S|ARSA_ENST00000356098.5_Silent_p.S252S|ARSA_ENST00000395621.3_Silent_p.S252S			P15289	ARSA_HUMAN	arylsulfatase A	250			S -> Y (in MLD; infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCTCCATCAGGGAGTCCCCAA	0.597000													41	60					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432178	4432178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4432178C>T	ENST00000301280.5	+	12	2278	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	726	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAGGCCTCCAAGCGGGAG	0.652000								Chromatin Structure					25	41					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048897	143048897	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143048897C>T	ENST00000343257.2	+	23	2893	c.2806C>T	c.(2806-2808)Cca>Tca	p.P936S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	936					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATCTCCTTCCCCAGAGCCCCC	0.637000													33	92					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702295	40702295	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:40702295C>T	ENST00000298910.7	+	29	4044	c.3986C>T	c.(3985-3987)gCt>gTt	p.A1329V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1329	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAAAAAGGCTGTGCCTTAT	0.313000													30	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3248289C>T	ENST00000217939.6	-	4	633	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	160						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)				GAGGAGATTTCCTTCCAAATG	0.468000													36	3					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	42996982	42996982	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:42996982C>T	ENST00000294973.6	-	7	556	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	167	Linker (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GGAATGGTGGCTCCTTGAGCA	0.642000													34	96					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030665	32030665	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:32030665G>A	ENST00000360311.4	+	2	643	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGTGGCTATAGAATTCTCTTT	0.483000													51	119					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350502	96350502	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:96350502G>A	ENST00000266736.2	+	4	455	c.349G>A	c.(349-351)Gga>Aga	p.G117R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	117					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CCAGGCCGGAGGAGGGATCCA	0.597000													4	100					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023423	18023423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18023423G>A	ENST00000205890.5	+	2	1647	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	437	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGAGCTGGAGGAACCAGAGGA	0.662000													29	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088195	9088195	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9088195G>A	ENST00000397910.4	-	1	3823	c.3620C>T	c.(3619-3621)cCa>cTa	p.P1207L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1207	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						ACCACTTGTTGGAATATTACT	0.498000													12	241					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43528859	43528859	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43528859G>A	ENST00000401740.1	-	2	517	c.414C>T	c.(412-414)ttC>ttT	p.F138F	PSG11_ENST00000320078.7_Silent_p.F138F|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	138	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGGTGAAGGTGAAATATCCAG	0.507000													82	200					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647356	150647356	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150647356C>T	ENST00000392968.2	-	7	3130	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G	KCNH2_ENST00000430723.3_Silent_p.G766G|KCNH2_ENST00000262186.5_Silent_p.G766G|KCNH2_ENST00000330883.4_Silent_p.G426G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	766					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCAGTGTGTCCCCTGGCGGTG	0.652000													47	156					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914225	75914225	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75914225G>A	ENST00000296641.4	-	2	510	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L81L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	103					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		ACAAACACCAGGAGGTAGATG	0.493000													64	136					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998526	27998526	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:27998526G>A	ENST00000441525.1	-	1	1040	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	309										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GAACACAACGGCATCTTCACC	0.488000													38	17					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584328	42584328	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42584328C>T	ENST00000600245.1	+	2	2225	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P614S|ZNF574_ENST00000359044.4_Missense_Mutation_p.P524S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCGGCCCTTCCCCTGCCCTGA	0.622000													146	325					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86547781	86547781	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86547781C>T	ENST00000450689.2	-	12	1755	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D284N|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D524N|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D357N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	524						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AAAACACAGTCAGCTGAACAG	0.418000													35	97					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805264	106805264	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106805264G>A	ENST00000438142.2	-	0	370																											CAGCTTCAGGGAGAACTGGTT	0.532000													86	481					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917609	99917609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99917609C>T	ENST00000332397.6	+	10	1830	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	SPDYE3_ENST00000437326.2_Missense_Mutation_p.S172F	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	549										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCCCACCTTTCCTAGAGCTCC	0.567000													40	95					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186280283	186280283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186280283G>A	ENST00000445192.2	+	9	3662	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	PRG4_ENST00000367484.3_Missense_Mutation_p.G735E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1165E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1113E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1163E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1206	Hemopexin-like 2.				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						AACTGTGAAGGAAAAACTTTC	0.343000													65	58					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703395	18703395	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:18703395G>A	ENST00000251296.1	+	8	1586	c.1203G>A	c.(1201-1203)cgG>cgA	p.R401R	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	401	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCTGGAGCGGGTTCCCGCCG	0.657000													18	43					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41860534	41860534	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:41860534T>G	ENST00000263798.3	+	8	1305	c.1081T>G	c.(1081-1083)Tcc>Gcc	p.S361A	TYRO3_ENST00000559066.1_Missense_Mutation_p.S316A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	361	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTACAAACTGTCCTGGGTTCA	0.532000													21	63					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931093	73931093	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:73931093G>A	ENST00000302351.4	-	2	2348	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	ENC1_ENST00000537006.1_Silent_p.S406S|ENC1_ENST00000510316.1_Silent_p.S333S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	406					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		AGACTGAGGGGGAGGCCGGGA	0.592000													56	76					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891839	2891839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:2891839G>A	ENST00000254528.3	+	4	1873	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	572					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCCAAACAGGGAAGACCGCGC	0.478000													35	46					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31767442	31767442	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31767442C>T	ENST00000253362.2	+	7	824	c.678C>T	c.(676-678)tcC>tcT	p.S226S	BPIFA2_ENST00000354932.5_Silent_p.S226S			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	226						extracellular region	lipid binding										TCATCCACTCCCTGGATGTGA	0.527000													7	154					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734155	28734155	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:28734155C>T	ENST00000550043.1	+	0	560																											CAAGGAGTTCCTCTTTAAACA	0.458000													41	68					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834197	24834197	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:24834197C>T	ENST00000395799.3	+	24	5505	c.5376C>T	c.(5374-5376)atC>atT	p.I1792I	TNRC6A_ENST00000315183.7_Silent_p.I1743I|TNRC6A_ENST00000432286.2_Silent_p.I270I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1792	RRM.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTTCCTAGATCGATGGCTCAA	0.587000													5	96					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66270204	66270204	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66270204G>A	ENST00000327268.4	-	4	404	c.240C>T	c.(238-240)ctC>ctT	p.L80L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L80L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	80						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GGACTGTGGCGAGGGGAGCTG	0.552000													24	74					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595327	55595327	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55595327C>T	ENST00000378397.1	+	1	633	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTGTTACCATCATGATCATCC	0.498000										HNSCC(27;0.073)			64	141					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632660	29632660	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29632660G>A	ENST00000278882.3	+	8	855	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGTAAAGAAGAGAGTAAAAT	0.318000													17	1087					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166868709	166868709	+	Silent	SNP	G	G	A	rs121918752		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166868709G>A	ENST00000423058.2	-	19	3806	c.3789C>T	c.(3787-3789)ttC>ttT	p.F1263F	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1235F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1252F|SCN1A_ENST00000303395.4_Silent_p.F1263F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1263			F -> L (in SMEI; dbSNP:rs121918752).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTCCAGAATGAAAATGTAAG	0.353000													26	48					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131865427	131865427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131865427C>T	ENST00000359827.3	-	19	4519	c.3557G>A	c.(3556-3558)gGg>gAg	p.G1186E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1186E			Q9HCM2	PLXA4_HUMAN	plexin A4	1186	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGGCTTCTCCCCAACCAGCAC	0.597000													28	105					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157668387	157668387	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157668387G>A	ENST00000368184.3	-	4	376	c.85C>T	c.(85-87)Cct>Tct	p.P29S	FCRL3_ENST00000368186.5_Missense_Mutation_p.P29S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACCATGGAGGATTGAGGAGA	0.507000													29	85					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470622	7470622	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7470622G>A	ENST00000399422.4	+	5	813	c.764_splice	c.e5-1	p.R255_splice		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	255					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TATCATTTAGGTATTGGCTGG	0.418000													15	38					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3194958	3194958	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3194958T>A	ENST00000323404.1	-	1	918	c.919A>T	c.(919-921)Atg>Ttg	p.M307L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTGTGAGCATCCTCCAGATG	0.478000													22	62					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21565416	21565416	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:21565416G>A	ENST00000382592.4	-	3	875	c.470C>T	c.(469-471)tCc>tTc	p.S157F	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.S157F	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	157					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCACCTGGGGAGGTCTGCTT	0.592000													42	92					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568562	107568562	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107568562G>A	ENST00000374736.3	-	31	4818	c.4424C>T	c.(4423-4425)cCt>cTt	p.P1475L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1475					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGGACACACAGGCAGCATCTT	0.582000													13	128					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876528	35876528	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35876528C>T	ENST00000303115.3	+	8	1449	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	440					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			TTCTTACTTCCCTGGGATCAA	0.483000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						25	62					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308283	140308283	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140308283G>A	ENST00000253807.2	+	1	1806	c.1806G>A	c.(1804-1806)cgG>cgA	p.R602R	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R602R|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTCCCGGGCGTCTGACT	0.522000													39	82					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19504127	19504127	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:19504127G>A	ENST00000375267.2	-	19	2468	c.2465C>T	c.(2464-2466)aCc>aTc	p.T822I	UBR4_ENST00000375226.2_Missense_Mutation_p.T822I|UBR4_ENST00000375254.3_Missense_Mutation_p.T822I|UBR4_ENST00000375217.2_Missense_Mutation_p.T822I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	822					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCTGTCTCGGTGAAATTGTG	0.517000													12	100					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172353	78172353	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:78172353C>T	ENST00000369947.2	-	1	1137	c.768G>A	c.(766-768)ctG>ctA	p.L256L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	256					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGTCGGTTATCAGCTGGGCTC	0.602000													56	103					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50333391	50333391	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50333391C>G	ENST00000312865.6	+	7	788	c.735C>G	c.(733-735)gtC>gtG	p.V245V	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	245	Pro-rich.				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)		AGCAGCCAGTCCCCCTGCCTC	0.657000													65	134					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938664	38938664	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38938664T>C	ENST00000302328.3	-	14	2273	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	SCN11A_ENST00000444237.2_Missense_Mutation_p.K692R|SCN11A_ENST00000456224.3_Missense_Mutation_p.K692R|SCN11A_ENST00000450244.1_Missense_Mutation_p.K692R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	692					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)	GCCGATTATCTTAATTAGTGT	0.433000													33	39					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726824	95726824	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:95726824C>T	ENST00000324972.6	+	17	2050	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Silent_p.T602T|DYNC1I1_ENST00000447467.2_Silent_p.T602T|DYNC1I1_ENST00000359388.4_Silent_p.T582T|DYNC1I1_ENST00000437599.1_Silent_p.T599T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	619					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATGAATGGACCCGATTTGCCA	0.468000													26	87					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690504	109690504	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:109690504C>T	ENST00000277225.5	+	3	4600	c.4311C>T	c.(4309-4311)ttC>ttT	p.F1437F	ZNF462_ENST00000457913.1_Silent_p.F1437F|ZNF462_ENST00000441147.2_Silent_p.F282F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1437					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCACCCCTTTCCCGGAGCAGG	0.527000													20	40					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114422903	114422903	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:114422903G>A	ENST00000317135.8	-	2	410	c.380C>T	c.(379-381)cCt>cTt	p.P127L	LRCH2_ENST00000538422.1_Missense_Mutation_p.P127L	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	127										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GACATCAGAAGGAATTTCTGT	0.294000													7	2					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408551	10408551	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10408551C>T	ENST00000226207.5	-	21	2458	c.2364G>A	c.(2362-2364)ctG>ctA	p.L788L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	788	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCGGGTAATCAGCTGGGCCA	0.448000													34	92					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531863	84531863	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84531863G>A	ENST00000527857.1	+	0	1885					NR_026851.1																						ATGAGGCACGGTCTCTTATGC	0.458000													11	25					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351543	172351543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172351543G>A	ENST00000475381.1	-	5	1182	c.949C>T	c.(949-951)Cct>Tct	p.P317S	NCEH1_ENST00000543711.1_Missense_Mutation_p.P184S|NCEH1_ENST00000538775.1_Missense_Mutation_p.P357S|NCEH1_ENST00000273512.3_Missense_Mutation_p.P349S			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	317					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGCAACTGAGGAAGCTCCTGG	0.552000													14	51					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240040	21240040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:21240040G>A	ENST00000261560.5	+	5	1107	c.926G>A	c.(925-927)aGa>aAa	p.R309K		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAAAGAATTCATACT	0.398000													50	109					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086870	90086870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:90086870G>A	ENST00000405460.2	+	70	14320	c.14224G>A	c.(14224-14226)Gaa>Aaa	p.E4742K	GPR98_ENST00000425867.2_Missense_Mutation_p.E403K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4742					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GGGAGGAGCCGAACTGGATCT	0.438000													23	37					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967508	106967508	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:106967508G>A	ENST00000369066.3	+	2	1688	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	401							sugar binding			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)		TCCTGTCAAGGATCATAAGCT	0.473000													19	149					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57949178	57949178	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57949178A>T	ENST00000564448.1	-	23	2321	c.2261T>A	c.(2260-2262)cTc>cAc	p.L754H	CNGB1_ENST00000251102.8_Missense_Mutation_p.L760H			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	760					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGGCGGAGGAGGGGGTTCAC	0.577000													16	21					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737404	4737404	+	Missense_Mutation	SNP	C	C	T	rs71579261	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:4737404C>T	ENST00000545990.2	-	5	1188	c.664G>A	c.(664-666)Gag>Aag	p.E222K	AKAP3_ENST00000228850.1_Missense_Mutation_p.E222K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	222					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGGTGCTCTCCTTGATCTTC	0.458000													5	180					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48805954	48805954	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48805954C>T	ENST00000315396.7	-	10	1808	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	376										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGCTCACCAGCCTTGAGCTTC	0.647000													44	71					0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29524025	29524025	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29524025G>A	ENST00000377050.4	-	2	353	c.130C>T	c.(130-132)Cct>Tct	p.P44S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	44	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	p.P44S(1)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCTGCACAGGAACCTTGGTC	0.468000													46	66					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150468969	150468969	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150468969C>T	ENST00000369064.3	+	8	820	c.786C>T	c.(784-786)tcC>tcT	p.S262S	TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	262					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACTCATCATCCTTATGGAGGT	0.502000													7	229					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186270755	186270755	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186270755C>A	ENST00000445192.2	+	4	276	c.231C>A	c.(229-231)tcC>tcA	p.S77S	PRG4_ENST00000367484.3_Silent_p.S36S|PRG4_ENST00000367483.4_Silent_p.S36S|PRG4_ENST00000367485.4_Silent_p.S77S|PRG4_ENST00000367486.3_Silent_p.S77S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	77	SMB 2.				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						GCTTTGAGTCCTTCGAGAGAG	0.478000													38	68					6.19805e-25	6.26776e-25	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10891775	10891775	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:10891775G>A	ENST00000283141.6	+	2	335	c.39G>A	c.(37-39)aaG>aaA	p.K13K	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	13						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGCCTATTAAGGAAGACAGGA	0.353000													29	126					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131880102	131880102	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131880102G>A	ENST00000286355.5	-	9	4292	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	734					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	p.P734S(1)		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)			CTTGAAGAAGGAAGCAAACTT	0.353000										HNSCC(32;0.087)			36	53					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139818	3139818	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3139818G>A	ENST00000252463.2	-	5	1539	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	ZSCAN10_ENST00000575108.1_Silent_p.A145A|ZSCAN10_ENST00000538082.2_Silent_p.A402A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	484					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCTCCGGTGGGCCACCAGGT	0.726000													12	9					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931203	31931203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31931203C>T	ENST00000375394.2	+	14	1530	c.1417C>T	c.(1417-1419)Cgt>Tgt	p.R473C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R280C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	473	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTGAAGCGTCGTCAGATCTA	0.567000													41	116					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137323990	137323990	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137323990G>A	ENST00000033079.3	-	8	1314	c.863C>T	c.(862-864)cCc>cTc	p.P288L	FAM13B_ENST00000425075.2_Missense_Mutation_p.P170L|FAM13B_ENST00000420893.2_Missense_Mutation_p.P288L	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	288					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATGCTGATGGGAGATATATG	0.299000													47	89					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36484077	36484077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:36484077C>T	ENST00000378867.3	+	10	1253	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q227*|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q300*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	300										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTCGGACATCCAGCTGCTGGC	0.662000													26	43					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117793847	117793847	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117793847T>C	ENST00000350763.4	-	23	6316	c.5905A>G	c.(5905-5907)Acc>Gcc	p.T1969A	TNC_ENST00000542877.1_Missense_Mutation_p.T1606A|TNC_ENST00000537320.1_Missense_Mutation_p.T1332A|TNC_ENST00000341037.4_Missense_Mutation_p.T1787A|TNC_ENST00000345230.3_Missense_Mutation_p.T1332A|TNC_ENST00000423613.2_Missense_Mutation_p.T1696A|TNC_ENST00000535648.1_Missense_Mutation_p.T1514A|TNC_ENST00000340094.3_Missense_Mutation_p.T1605A|TNC_ENST00000346706.3_Missense_Mutation_p.T1423A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1969	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGAAGATGGTCTGGATCATA	0.517000													48	62					0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33165994	33165994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:33165994C>T	ENST00000320954.6	+	3	815	c.716C>T	c.(715-717)gCc>gTc	p.A239V	CRTAP_ENST00000449224.1_Missense_Mutation_p.A239V|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	239						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTCTTCAAAGCCTTTTACGAG	0.522000													34	105					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44064476	44064476	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:44064476C>A	ENST00000359947.4	+	13	2545	c.2205C>A	c.(2203-2205)agC>agA	p.S735R	PTPRF_ENST00000372413.3_Missense_Mutation_p.S735R|PTPRF_ENST00000372414.3_Missense_Mutation_p.S735R|PTPRF_ENST00000438120.1_Missense_Mutation_p.S735R|PTPRF_ENST00000422171.2_Missense_Mutation_p.S92R|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	735	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTCCCCAGCAAGCAGCATG	0.642000													39	80					1.07637e-12	1.08428e-12	1	1	0
MACROD2	140733	broad.mit.edu	37	20	15918183	15918183	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:15918183G>A	ENST00000217246.4	+	12	1296	c.901G>A	c.(901-903)Gat>Aat	p.D301N	MACROD2_ENST00000378058.3_Missense_Mutation_p.D66N|MACROD2_ENST00000310348.4_Missense_Mutation_p.D301N|MACROD2_ENST00000402914.1_Missense_Mutation_p.D66N	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	301	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGACTGTAAAGATGAAGGTAT	0.408000													54	102					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23542567	23542567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:23542567G>A	ENST00000300619.7	-	4	3419	c.3214C>T	c.(3214-3216)Cat>Tat	p.H1072Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H1040Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1072						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCTCTAGTATGAATTCTCTTA	0.383000													47	69					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80458062	80458062	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:80458062C>T	ENST00000265361.3	-	3	665		c.e3-1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCTCGAAGTTCTGAAAGAGTG	0.343000													5	142					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485051	56485051	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56485051T>G	ENST00000291971.3	+	7	2639	c.2568T>G	c.(2566-2568)tgT>tgG	p.C856W	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	856						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTTACTTGTGAAAGCCTTG	0.488000													126	272					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100145	168100145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168100145C>T	ENST00000409195.1	+	9	2332	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	XIRP2_ENST00000295237.9_Missense_Mutation_p.S748L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S526L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	573					actin cytoskeleton organization	cell junction	actin binding	p.S748L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGATGGTTCGGGCCAAATG	0.383000													23	49					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489587	128489587	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:128489587C>T	ENST00000325888.8	+	30	5415	c.5154C>T	c.(5152-5154)atC>atT	p.I1718I	FLNC_ENST00000346177.6_Silent_p.I1718I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1718					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCATCACCATCCGCTTCGGGG	0.597000													34	120					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201686	66201686	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:66201686G>A	ENST00000273854.3	-	16	3416	c.2816C>T	c.(2815-2817)cCa>cTa	p.P939L	EPHA5_ENST00000432638.2_Missense_Mutation_p.P776L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P917L|EPHA5_ENST00000511294.1_Missense_Mutation_p.P940L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	939					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGACTACTTGGGTTACGTAT	0.433000										TSP Lung(17;0.13)			47	74					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179526215	179526215	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:179526215C>T	ENST00000467460.1	-	13	1693	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	PEX5L_ENST00000464614.1_Missense_Mutation_p.E347K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E347K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E431K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E263K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E412K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E453K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E420K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E396K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	455					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCACCCCTTCCAGAACAGAG	0.403000													12	107					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395319	115395319	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:115395319G>A	ENST00000393780.3	+	3	1066	c.598G>A	c.(598-600)Gag>Aag	p.E200K	GAP43_ENST00000305124.6_Missense_Mutation_p.E164K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	164					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGCCAAGGAGGAGCCTAAACA	0.602000													21	49					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239839	126239839	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126239839C>T	ENST00000394329.3	+	1	2286	c.2273C>T	c.(2272-2274)gCt>gTt	p.A758V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	758	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAAAAACAGCTTATCAGTTG	0.433000													32	72					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552718	43552718	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43552718C>T	ENST00000220420.5	-	2	77	c.70G>A	c.(70-72)Gag>Aag	p.E24K	TGM5_ENST00000349114.4_Missense_Mutation_p.E24K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	24					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGATCTCCTCCGTGTGGTGC	0.582000													58	125					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712332	93712332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:93712332G>A	ENST00000334746.5	-	10	2729	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	BTBD7_ENST00000554565.1_Missense_Mutation_p.P457S|BTBD7_ENST00000393170.2_Missense_Mutation_p.P382S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	808	Pro-rich.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCAGCTTTAGGAGCTGTTCTG	0.552000													35	56					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233890	120233890	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:120233890G>A	ENST00000276681.6	+	3	298	c.196G>A	c.(196-198)Gga>Aga	p.G66R	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	66	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TCTACTACAAGGATGGGTCAT	0.458000													119	251					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476210	120476210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:120476210G>A	ENST00000355622.6	+	3	1905	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V562M	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	602	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCAGCTCTTGGTGGAAGTTGA	0.433000													21	41					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57202809	57202809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57202809G>A	ENST00000343433.6	-	15	1824	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	582										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATAACTTCCTGAGACTTAAGT	0.323000													25	46					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410427	32410427	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32410427G>A	ENST00000395388.2	+	2	394	c.285G>A	c.(283-285)ctG>ctA	p.L95L	HLA-DRA_ENST00000374982.5_Silent_p.L95L	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	95	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGCCAACCTGGAAATCATGA	0.493000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				8	286					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720094	140720094	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140720094C>T	ENST00000394576.2	+	1	1556	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCGCTCCTTTGATTAT	0.507000													57	137					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168694	16168694	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:16168694C>T	ENST00000380289.2	+	2	1078	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	227					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCGATCATCTCTGTTTACTAC	0.438000													95	33					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408887	82408887	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:82408887G>A	ENST00000370728.1	+	8	1277	c.632G>A	c.(631-633)gGa>gAa	p.G211E	LPHN2_ENST00000335786.5_Missense_Mutation_p.G211E|LPHN2_ENST00000271029.4_Missense_Mutation_p.G211E|LPHN2_ENST00000394879.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370713.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370717.2_Missense_Mutation_p.G211E|LPHN2_ENST00000370730.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370723.1_Missense_Mutation_p.G211E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370715.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370725.1_Missense_Mutation_p.G211E|LPHN2_ENST00000359929.3_Missense_Mutation_p.G211E|LPHN2_ENST00000370721.1_Missense_Mutation_p.G215E|LPHN2_ENST00000319517.6_Missense_Mutation_p.G211E			O95490	LPHN2_HUMAN	latrophilin 2	211	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GATGGTACTGGATTTGTGGTG	0.358000													34	71					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15686085	15686085	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:15686085G>A	ENST00000378076.3	-	13	1696	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	448					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCCAAATCCGGAAGGGACAGC	0.443000													23	60					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77707376	77707376	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:77707376C>T	ENST00000328313.5	+	2	545	c.324C>T	c.(322-324)ccC>ccT	p.P108P		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	108					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGAAGCTGCCCTACCACGCCA	0.597000													57	147					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451265	156451265	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:156451265G>A	ENST00000392741.2	+	6	772		c.e6+1		RNF32_ENST00000343665.4_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000405335.1_Splice_Site|RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Splice_Site			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAAAAAAAGGTAGGTAAAGA	0.418000													24	49					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955100	104955100	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:104955100C>T	ENST00000507740.1	+	11	2259	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P722S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P883S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P661S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	945	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			CCACCCTTCTCCATATATGCC	0.378000										HNSCC(12;0.0054)			31	59					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563224	55563224	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55563224C>T	ENST00000335605.1	+	1	193	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTACTTTTTCCTTAGTCACCT	0.373000													56	97					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2844864	2844864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2844864C>T	ENST00000380445.3	+	17	1723	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	VPS16_ENST00000380443.3_Missense_Mutation_p.L237F|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.L407F|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	551					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGGTACCCCTTCTCCTAAA	0.607000													24	99					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28764663	28764663	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:28764663C>T	ENST00000422425.2	+	13	941	c.897C>T	c.(895-897)acC>acT	p.T299T	PLB1_ENST00000327757.5_Silent_p.T288T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	288	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGAGACCACCCCATCTCTAC	0.587000													17	51					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345812	11345812	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11345812C>T	ENST00000376810.5	+	2	967	c.641C>T	c.(640-642)cCa>cTa	p.P214L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	214					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GCCATCTTCCCACTGGTCTAT	0.602000													56	109					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814118	106814118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:106814118C>T	ENST00000407775.2	+	8	2058	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	603					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGCCAAACCTCCATAAACCTT	0.468000													15	170					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241829548	241829548	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241829548C>T	ENST00000307486.8	-	3	419	c.321G>A	c.(319-321)agG>agA	p.R107R	C2orf54_ENST00000388934.4_Silent_p.R256R|C2orf54_ENST00000402775.2_Silent_p.R88R			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	256										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCCCCAGCAGCCTCGTGAGCA	0.682000													28	69					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44582526	44582526	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44582526G>A	ENST00000322927.2	-	18	2604	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	ZNF335_ENST00000426788.1_Missense_Mutation_p.S680F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACCTTCAGGGGAGGGCTGCCC	0.672000													7	30					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74394402	74394402	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74394402G>A	ENST00000319380.7	-	12	2023	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	653							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAGTTGTACGGAACCTAAAGT	0.512000											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	629					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146680558	146680558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:146680558C>T	ENST00000254090.4	-	6	1074	c.686G>A	c.(685-687)gGa>gAa	p.G229E	FMO5_ENST00000441068.2_Missense_Mutation_p.G229E|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.G229E	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	229						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AGCAGGATATCCGTAGTCCCC	0.418000													27	87					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71148277	71148277	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71148277G>A	ENST00000234392.2	+	2	329	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	99					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTGGACCTGGACCGGCCCA	0.582000													39	40					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20416366	20416366	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:20416366C>T	ENST00000375108.3	+	4	538	c.270C>T	c.(268-270)ttC>ttT	p.F90F	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	90					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		AATACAGATTCGCGTGGGGCG	0.587000													11	35					0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111532224	111532224	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111532224G>A	ENST00000267339.2	-	6	1157	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	341										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			ACAACTCAGGGTTAGCTCTCA	0.542000													7	104					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119161816	119161816	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:119161816C>T	ENST00000296499.5	+	11	2659	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	752	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCAGCCACATCGAGAGATGGC	0.473000													36	49					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587600	36587600	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:36587600C>T	ENST00000332987.1	-	7	989	c.567G>A	c.(565-567)gaG>gaA	p.E189E	APOL4_ENST00000352371.1_Silent_p.E192E|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	193					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TGTATGTGTTCTCCACGATGC	0.557000													21	39					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166960377	166960377	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:166960377C>T	ENST00000392766.2	-	20	2532	c.2192G>A	c.(2191-2193)aGc>aAc	p.S731N	ZBBX_ENST00000392764.1_Missense_Mutation_p.S702N|ZBBX_ENST00000307529.5_Missense_Mutation_p.S770N|ZBBX_ENST00000455345.2_Missense_Mutation_p.S770N|ZBBX_ENST00000392767.2_Missense_Mutation_p.S731N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	731						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGTGATTGGCTGCTGAAATC	0.378000													21	57					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73453908	73453908	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73453908A>G	ENST00000224721.6	+	20	2201	c.2196A>G	c.(2194-2196)gaA>gaG	p.E732E	CDH23_ENST00000299366.7_Silent_p.E772E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	727	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCAGGGGAAATCACCACCA	0.587000													15	25					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548952	7548952	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7548952C>T	ENST00000313599.3	-	8	1846	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E597K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E607K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	597	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGTACACCTCCAGTCTTCCC	0.552000													9	20					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107234427	107234427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107234427C>T	ENST00000379119.2	+	3	235	c.221C>T	c.(220-222)tCc>tTc	p.S74F	BCAP29_ENST00000005259.4_Missense_Mutation_p.S74F|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.S74F|BCAP29_ENST00000445771.2_Missense_Mutation_p.S74F	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	74					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AGGAAATATTCCTCAGTTCAT	0.353000													34	155					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697558	6697558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6697558C>T	ENST00000245907.6	-	21	2685	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	865					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		TGGAGTAGTTCCACCCTCACC	0.612000													27	42					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110463371	110463371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110463371G>A	ENST00000378402.5	+	41	6447	c.6343G>A	c.(6343-6345)Gga>Aga	p.G2115R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2115	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CGTGGGATCAGGATTCAGGTA	0.507000										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485665	36485665	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36485665C>T	ENST00000342292.4	-	11	3807	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1263						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCAGATTTCGGCCTTGTTG	0.607000													42	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469442	179469442	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179469442C>T	ENST00000589042.1	-	281	54598	c.54374G>A	c.(54373-54375)aGa>aAa	p.R18125K	TTN_ENST00000359218.5_Missense_Mutation_p.R9185K|TTN_ENST00000591111.1_Missense_Mutation_p.R16484K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15557K|TTN_ENST00000460472.2_Missense_Mutation_p.R9060K|TTN_ENST00000342175.6_Missense_Mutation_p.R9252K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16484	Fibronectin type-III 31.						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)			TACCCCATATCTTTTCTCTAC	0.348000													31	90					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967744	81967744	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:81967744C>T	ENST00000282701.2	+	2	1489	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	390					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGATTATCTCCCCCAAGTCC	0.463000													70	139					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871139	71871139	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71871139A>G	ENST00000258104.3	+	41	4732	c.4455A>G	c.(4453-4455)atA>atG	p.I1485M	DYSF_ENST00000409651.1_Missense_Mutation_p.I1517M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.I1503M|DYSF_ENST00000394120.2_Missense_Mutation_p.I1486M|DYSF_ENST00000429174.2_Missense_Mutation_p.I1506M|DYSF_ENST00000409366.1_Missense_Mutation_p.I1507M|DYSF_ENST00000409744.1_Missense_Mutation_p.I1493M|DYSF_ENST00000409582.3_Missense_Mutation_p.I1523M|DYSF_ENST00000409762.1_Missense_Mutation_p.I1502M|DYSF_ENST00000413539.2_Missense_Mutation_p.I1516M|DYSF_ENST00000410020.3_Missense_Mutation_p.I1524M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1485						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGCCTCCATAGGGGAGAGGG	0.502000													12	24					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8647397	8647397	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8647397C>T	ENST00000293845.3	-	2	415	c.189_splice	c.e2+1	p.K63_splice	CCDC42_ENST00000539522.2_Splice_Site_p.K63_splice	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	63										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGTCCCCACCTTCTTCTTCT	0.572000													29	50					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110908961	110908961	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110908961G>A	ENST00000265171.5	+	17	2998	c.2553G>A	c.(2551-2553)gaG>gaA	p.E851E	EGF_ENST00000509793.1_Silent_p.E809E|EGF_ENST00000503392.1_Silent_p.E851E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	851	EGF-like 6.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGAGGGAGAGGATGCCACAT	0.433000													47	80					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438038	23438038	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23438038G>A	ENST00000248996.4	+	2	822	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	52						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGTCAAACAGATGAAGATCA	0.587000													90	214					0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184240924	184240924	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:184240924C>T	ENST00000323319.5	-	1	1003	c.448G>A	c.(448-450)Gat>Aat	p.D150N	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	150					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACGTTCTCATCCCAGAACTCC	0.587000													21	45					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402897	38402897	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38402897G>A	ENST00000426402.2	-	0	222																											CAGGAGACAGGAAAGCTAGAA	0.478000													4	75					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393415	38393415	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38393415C>T	ENST00000390345.2	-	0	588																											AAGTATCATACTTCCCTGGGC	0.488000													7	117					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239919	96239919	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:96239919G>A	ENST00000347108.3	-	18	2524	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	DZIP1_ENST00000361396.2_Missense_Mutation_p.P679S|DZIP1_ENST00000361156.3_Missense_Mutation_p.P679S|DZIP1_ENST00000376829.2_Missense_Mutation_p.P698S			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	698					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGGGCCTGGGGATGCGTAT	0.572000													8	60					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686790	78686790	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78686790A>G	ENST00000545128.1	+	7	1408	c.870A>G	c.(868-870)caA>caG	p.Q290Q	PCSK5_ENST00000376767.3_Silent_p.Q290Q|PCSK5_ENST00000376752.4_Silent_p.Q290Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	290	Catalytic.				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	extracellular space|Golgi lumen|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						TCACCCGGCAAGCCTTTGAAA	0.517000													90	195					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049690	107049690	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107049690C>T	ENST00000409886.3	-	16	2344	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E753K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	753					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTCGAGTTCCTGCATGACT	0.368000													62	347					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895873	131895873	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131895873C>T	ENST00000359827.3	-	10	3089	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K	PLXNA4_ENST00000321063.4_Silent_p.K709K			Q9HCM2	PLXA4_HUMAN	plexin A4	709						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACCAGGATCTTGTCCACTC	0.602000													3	19					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47837156	47837156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47837156G>A	ENST00000378460.2	-	13	1607	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	NUP160_ENST00000528501.1_Nonsense_Mutation_p.R85*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R407*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R407*|NUP160_ENST00000531016.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	521					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTAAATTTCGAAACTCCTCC	0.403000													38	94					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247009	77247009	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:77247009C>T	ENST00000388914.3	-	22	3310		c.e22+1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCTTTCTTACCTTTAACAGA	0.368000													35	65					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57892693	57892693	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:57892693G>A	ENST00000262644.4	-	2	709	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	151						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ATATCCTCAGGAATCTTATGA	0.403000													8	112					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228562363	228562363	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228562363G>A	ENST00000570156.2	+	108	25518	c.25444G>A	c.(25444-25446)Gtg>Atg	p.V8482M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V5159M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V7525M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7525					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCATCCTGGTGGTGGTGGC	0.627000													11	177					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710195	117710195	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117710195G>A	ENST00000317775.6	-	10	2519	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L612L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	612					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTACCTCCAGGATATTGTAG	0.597000													35	75					0	0	1	0	0
IGFL2	147920	broad.mit.edu	37	19	46664012	46664012	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46664012T>G	ENST00000434646.2	+	4	539	c.248T>G	c.(247-249)tTc>tGc	p.F83C	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.F72C	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	72						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CCCTGCACCTTCTGGCCCTGC	0.537000													35	427					0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603489	36603489	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36603489G>A	ENST00000373166.3	-	4	421	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	TRAPPC3_ENST00000373163.1_Missense_Mutation_p.P65S|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Missense_Mutation_p.P65S	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	111						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TCCACCAAGGGGTTATTTTCC	0.483000													45	89					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000594404.1_Silent_p.T290T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						AACCTTATACGAAATATGTTT	0.308000													31	44					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211518791	211518791	+	Missense_Mutation	SNP	G	G	A	rs146968493		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211518791G>A	ENST00000233072.5	+	29	3719	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	CPS1_ENST00000430249.2_Missense_Mutation_p.E1181K|CPS1_ENST00000451903.2_Missense_Mutation_p.E724K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1175	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.E1175*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGGGGCCCGAGAAGTAGAAAT	0.428000													36	80					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156630	94156630	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94156630G>A	ENST00000553484.1	+	47	7590	c.7436G>A	c.(7435-7437)gGa>gAa	p.G2479E	UNC79_ENST00000393151.2_Missense_Mutation_p.G2457E|UNC79_ENST00000555664.1_Missense_Mutation_p.G2418E|UNC79_ENST00000256339.4_Missense_Mutation_p.G2280E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2457						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCCTGATTGGATTTCCAGAG	0.453000													30	83					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043262	153043262	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:153043262C>T	ENST00000367245.5	+	2	590	c.582C>T	c.(580-582)ccC>ccT	p.P194P	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	194						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ATATCTCTCCCACCATCAGCA	0.527000													95	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090330	9090330	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9090330G>A	ENST00000397910.4	-	1	1688	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	495	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						CAGCTGTGCTGGAACTCTGCC	0.532000													51	71					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746446	94746446	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:94746446G>A	ENST00000399300.2	-	3	2406	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	731							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTGGCCGACGGAAATGCTCCT	0.637000													99	231					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391085	49391085	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49391085C>T	ENST00000421952.2	-	2	1595	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	525	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						cccgcggcccccgccgggcTG	0.672000													16	17					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954507	70954507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70954507G>A	ENST00000393567.2	-	46	7922	c.7772C>T	c.(7771-7773)cCc>cTc	p.P2591L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2591										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTCCTTTGGGAAGCTTGTC	0.572000													17	10					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8740147	8740147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8740147C>T	ENST00000311434.9	-	6	591	c.352G>A	c.(352-354)Gac>Aac	p.D118N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	118					platelet activation	cytosol											ATCGCGCAGTCCAAGGCGACT	0.552000													10	11					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133913696	133913696	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133913696C>T	ENST00000220616.4	+	16	3572	c.3532C>T	c.(3532-3534)Cca>Tca	p.P1178S	TG_ENST00000377869.1_Missense_Mutation_p.P1178S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1178	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGCTTTTCCCCAGTGCAATG	0.647000													4	140					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149102	50149102	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:50149102C>T	ENST00000404971.1	-	24	5963	c.4624G>A	c.(4624-4626)Gat>Aat	p.D1542N	NRXN1_ENST00000405472.3_Missense_Mutation_p.D1494N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1472N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1472N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D437N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1502N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1494N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D490N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1472					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACTCTTTATCCTTGTTTTTC	0.348000													24	76					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40714893	40714893	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:40714893C>T	ENST00000298910.7	+	35	5131	c.5073C>T	c.(5071-5073)atC>atT	p.I1691I		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1691					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAAATTATCATCCGACTAT	0.393000													69	144					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034618	52034618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52034618G>A	ENST00000346477.3	-	2	291	c.223C>T	c.(223-225)Cca>Tca	p.P75S	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P75S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P75S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P75S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P75S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P39S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	75	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGGCCACTGGAACATCAGCC	0.587000													39	81					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965098	46965098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:46965098G>A	ENST00000374323.3	-	5	1593	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	SYT15_ENST00000374325.3_Nonsense_Mutation_p.Q283*|SYT15_ENST00000374321.4_Nonsense_Mutation_p.Q283*|SYT15_ENST00000503753.1_Nonsense_Mutation_p.Q283*|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	283	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGGCAGAACTGGAGGTCGCCA	0.622000													7	102					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807575	143807575	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143807575C>T	ENST00000408979.2	+	1	969	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGGGCGCCCTCCACAGAGCAC	0.463000													59	260					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067215	11067215	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11067215G>A	ENST00000287766.4	+	8	1216	c.795G>A	c.(793-795)aaG>aaA	p.K265K	SLC6A1_ENST00000536032.1_Silent_p.K87K	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	265					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGGGGCCAAGGAGGGCATCC	0.577000													25	43					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040678	65040678	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65040678G>A	ENST00000300069.4	-	6	774	c.507C>T	c.(505-507)atC>atT	p.I169I	RBPMS2_ENST00000560606.1_Silent_p.I58I	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	169							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CAGCATGGGAGATGGCTGGGG	0.622000													37	68					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94047141	94047141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94047141A>T	ENST00000297268.6	+	32	2440	c.1969A>T	c.(1969-1971)Aag>Tag	p.K657*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	657					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAAGGGAGAAAAGGTACGTGT	0.522000										HNSCC(75;0.22)			5	26					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78347234	78347234	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:78347234C>T	ENST00000255189.3	-	5	649	c.621G>A	c.(619-621)agG>agA	p.R207R	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	207					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CACCACATTTCCTAGCCCCAG	0.448000													65	106					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1638318	1638318	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1638318G>A	ENST00000303415.3	-	1	107	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SIRPG_ENST00000381583.2_Silent_p.L15L|SIRPG_ENST00000216927.4_Silent_p.L15L|SIRPG_ENST00000344103.4_Silent_p.L15L	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	15					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	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						GTCAGAAGCAGGAAAGGACCA	0.567000													28	95					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704568	40704568	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40704568T>G	ENST00000372771.4	+	8	4221	c.4194T>G	c.(4192-4194)ctT>ctG	p.L1398L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1398					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTAAAGTACTTTCCGAAGCTG	0.413000													43	73					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482303	41482303	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:41482303G>A	ENST00000314992.5	-	9	904	c.714C>T	c.(712-714)atC>atT	p.I238I	EXD1_ENST00000458580.2_Silent_p.I296I	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	238					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AAACAGGTCGGATGAACCATA	0.423000													31	78					0	0	1	0	0
C1orf131	128061	broad.mit.edu	37	1	231362737	231362737	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:231362737G>A	ENST00000318906.2	-	4	616	c.588C>T	c.(586-588)gcC>gcT	p.A196A	C1orf131_ENST00000366651.3_Silent_p.A195A|C1orf131_ENST00000366649.2_Silent_p.A196A			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	196										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCAGCATAATGGCACGTTCCT	0.488000													34	72					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114362206	114362206	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:114362206C>T	ENST00000359785.5	-	20	2487	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	PTPN22_ENST00000460620.1_Silent_p.*180*|PTPN22_ENST00000538253.1_Silent_p.L540L|PTPN22_ENST00000528414.1_Silent_p.L729L|PTPN22_ENST00000525799.1_Silent_p.L657L|PTPN22_ENST00000420377.2_Silent_p.L784L|RP5-1073O3.2_ENST00000429398.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	784					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCAAAATTCAGAAATGAGC	0.299000													19	37					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514278	47514278	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47514278C>T	ENST00000371901.3	+	10	1499	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P416S	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	417						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCACCACAACCCTGCTGTCTG	0.428000													103	216					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33644619	33644619	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33644619C>T	ENST00000374316.5	+	27	4417	c.3357C>T	c.(3355-3357)acC>acT	p.T1119T	ITPR3_ENST00000605930.1_Silent_p.T1119T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1119					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGCTGCGGACCATGGTGGAGA	0.607000													18	69					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619144	46619144	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:46619144C>T	ENST00000242848.4	-	3	521	c.173G>A	c.(172-174)aGa>aAa	p.R58K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R58K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	58							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATGTACGAATCTACATGTGTT	0.383000													41	79					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149510137	149510137	+	Silent	SNP	C	C	T	rs67735560		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149510137C>T	ENST00000261799.4	-	9	1801	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	444	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGATGTTCGGCTGGGGCA	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	93	157					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138671994	138671994	+	Splice_Site	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:138671994C>G	ENST00000520602.1	-	23	2835	c.2550_splice	c.e23+1	p.Q850_splice	MCF2_ENST00000519895.1_Splice_Site_p.Q866_splice|MCF2_ENST00000338585.6_Splice_Site_p.Q806_splice|MCF2_ENST00000414978.1_Splice_Site_p.Q850_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q935_splice|MCF2_ENST00000370573.4_Splice_Site_p.Q790_splice|MCF2_ENST00000370576.4_Splice_Site_p.Q790_splice|MCF2_ENST00000536274.1_Splice_Site_p.Q751_splice			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	790					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.Q790Q(2)|p.Q866Q(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATGACCAACCTGGACAATAT	0.318000													27	28					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112230442	112230442	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:112230442C>T	ENST00000261733.2	+	9	1000	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ALDH2_ENST00000416293.3_Silent_p.F266F	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	313					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCCTGTTCTTCAACCAGGGCC	0.632000			T	HMGA2	leiomyoma								10	15					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731646	92731646	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92731646A>C	ENST00000379958.2	-	3	4034	c.3765T>G	c.(3763-3765)ccT>ccG	p.P1255P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1255						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGTTAAATAAGGAATATAGT	0.289000													50	171					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860678	52860678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:52860678C>T	ENST00000343457.3	-	4	2516	c.2510G>A	c.(2509-2511)tGg>tAg	p.W837*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	837						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAGCAATGCCATTCTGCTGC	0.478000													25	53					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103171	21103171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:21103171G>A	ENST00000312239.5	-	4	408	c.269C>T	c.(268-270)tCg>tTg	p.S90L	HP1BP3_ENST00000375000.1_Missense_Mutation_p.S90L|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	90					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGCCTCACTCGAAGTAGCAGG	0.423000													63	148					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705859	35705859	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35705859C>T	ENST00000373866.3	+	2	241	c.219C>T	c.(217-219)ctC>ctT	p.L73L	ARMC12_ENST00000288065.2_Silent_p.L100L|ARMC12_ENST00000373869.3_Silent_p.L73L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	73							binding										TCCGGAGGCTCCTCAACTCTT	0.587000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	176					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154587594	154587594	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154587594G>A	ENST00000404039.1	+	12	1694		c.e12+1		DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.?(3)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACAGACAGGTAACTACTGC	0.478000													13	33					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848639	73848639	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:73848639C>T	ENST00000523207.1	+	3	1637	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	350					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATGATATTTTCCAGCCTGGTA	0.473000													75	165					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277486	131277486	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:131277486G>A	ENST00000337057.3	-	2	321	c.140C>T	c.(139-141)tCc>tTc	p.S47F	EPB41L2_ENST00000525271.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S47F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S47F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S47F|EPB41L2_ENST00000530148.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	47					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGGTGGCTGGGAACCTTTTTC	0.493000													16	129					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735569	55735569	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55735569G>A	ENST00000312345.2	-	1	421	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATCACTAGAGGATACTGCAA	0.433000													26	63					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33538141	33538141	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:33538141C>T	ENST00000228567.3	-	4	1459	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	SYT10_ENST00000535526.1_Missense_Mutation_p.R207K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	388	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTCAGATTTCTGCACTTAAT	0.423000													34	104					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000													79	71					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762064	101762064	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:101762064C>T	ENST00000334289.3	-	9	1708	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	371	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGATTTAATCTTGACAGGTG	0.318000													54	45					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557633	154557633	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:154557633C>T	ENST00000409959.3	+	35	4787	c.4738C>T	c.(4738-4740)Cgc>Tgc	p.R1580C	KIAA0922_ENST00000409663.3_Missense_Mutation_p.R1579C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1496C	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1579						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAACCCGTTTCGCGCCTATAT	0.488000													37	81					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087931	86087931	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:86087931G>A	ENST00000330753.4	+	2	840	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	FLRT2_ENST00000554746.1_Missense_Mutation_p.G25R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	25					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATTTCCCTGGGGCTCTACTC	0.507000													46	98					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647297	1647297	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1647297G>A	ENST00000252804.4	-	19	3845	c.3795C>T	c.(3793-3795)atC>atT	p.I1265I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1265					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACGTCTGCTTGATCTGAGTCA	0.597000													48	72					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999933	144999933	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144999933C>T	ENST00000322810.4	-	31	4744	c.4575G>A	c.(4573-4575)cgG>cgA	p.R1525R	PLEC_ENST00000356346.3_Silent_p.R1374R|PLEC_ENST00000354589.3_Silent_p.R1388R|PLEC_ENST00000398774.2_Silent_p.R1356R|PLEC_ENST00000527096.1_Silent_p.R1411R|PLEC_ENST00000436759.2_Silent_p.R1415R|PLEC_ENST00000354958.2_Silent_p.R1366R|PLEC_ENST00000345136.3_Silent_p.R1388R|PLEC_ENST00000357649.2_Silent_p.R1392R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1525	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCGCCTCCCGCTCCGCCT	0.731000													13	26					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89261437	89261437	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:89261437C>T	ENST00000289746.2	+	14	2384	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	773					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCCCCGCTTCGCCCGGCTGG	0.672000													16	9					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347322	95347322	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95347322G>A	ENST00000371483.4	+	4	1146	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	FFAR4_ENST00000371481.4_Missense_Mutation_p.D348N|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CATTTTAACAGACACATCTGT	0.418000													58	114					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219037	108219037	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108219037C>T	ENST00000273353.3	-	5	540	c.484G>A	c.(484-486)Ggg>Agg	p.G162R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	162	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGCCTCTTCCCTTTGTAGGCG	0.473000													34	61					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297415	117297415	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:117297415A>T	ENST00000369478.3	+	2	332	c.224A>T	c.(223-225)aAa>aTa	p.K75I	CD2_ENST00000369477.1_Missense_Mutation_p.K75I	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	75	Ig-like V-type.|LFA-3 (CD58) binding region 1.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGAAAAGAGAAAGAGACTTTC	0.313000													27	52					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16058433	16058433	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16058433C>T	ENST00000375799.3	+	17	2742	c.2515C>T	c.(2515-2517)Cac>Tac	p.H839Y	PLEKHM2_ENST00000477849.1_Intron|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.H819Y|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	839	Interaction with sifA.|PH.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGATCGGCCCCACGCCTTCCA	0.677000													14	24					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53011952	53011952	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53011952C>T	ENST00000305748.3	-	1	391	c.357G>A	c.(355-357)gtG>gtA	p.V119V		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	119	Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTCCAGCTCCACGTTCAGGG	0.587000													71	140					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90101205	90101205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:90101205G>A	ENST00000405460.2	+	72	14862	c.14766G>A	c.(14764-14766)tgG>tgA	p.W4922*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.W583*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4922					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CGGTTGCCTGGACCACTGGAT	0.453000													22	40					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740862	30740862	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30740862C>T	ENST00000262518.4	+	27	6481	c.6096C>T	c.(6094-6096)ttC>ttT	p.F2032F	SRCAP_ENST00000344771.4_Silent_p.F1874F|SRCAP_ENST00000395059.2_Silent_p.F1970F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2032					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.F2032L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCACCCAGTTCCCTGACTTAA	0.517000													60	130					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960288	64960288	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:64960288C>T	ENST00000399262.2	-	11	5442	c.5224G>A	c.(5224-5226)Gga>Aga	p.G1742R	JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1523R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1560R|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1742					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTTCTTCTCCTTTTTTACTG	0.358000													23	30					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33798506	33798506	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33798506G>C	ENST00000361005.5	+	4	648	c.648G>C	c.(646-648)aaG>aaC	p.K216N	PRSS3_ENST00000342836.4_Missense_Mutation_p.K173N|PRSS3_ENST00000429677.3_Missense_Mutation_p.K152N|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.K159N	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	216	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACGAGCTGAAGTGCCTGGATG	0.517000													75	137					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25583005	25583005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:25583005C>T	ENST00000269141.3	-	7	1399	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CDH2_ENST00000399380.3_Missense_Mutation_p.E295K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	326	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCACCAGTCTCATTGTTGATT	0.438000													47	99					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6122766	6122766	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6122766G>A	ENST00000261405.5	-	32	5755	c.5501C>T	c.(5500-5502)gCc>gTc	p.A1834V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1834	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCGTAGCTGGGCTGCATCGTA	0.527000													27	68					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759749	3759749	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3759749G>A	ENST00000316757.3	-	2	714	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	172					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTTCCGGGGAACTGCTT	0.662000													30	57					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976717	106976717	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:106976717C>T	ENST00000369701.3	+	19	2798	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	SORCS3_ENST00000369699.4_Silent_p.I143I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	857	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACAAACATCCAGCTTGACT	0.517000													19	39					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	34979909	34979909	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34979909G>A	ENST00000310974.4	-	19	1645	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	501						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ATAGCACCAGGATGTACTTTG	0.368000													14	55					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769806	247769806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247769806G>A	ENST00000320002.2	+	1	951	c.919G>A	c.(919-921)Gga>Aga	p.G307R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G307R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACTTCTCTCGGGAAAATTGTG	0.378000													62	73					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273960	159273960	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159273960G>A	ENST00000368115.1	+	4	418	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	FCER1A_ENST00000368114.1_Missense_Mutation_p.E74K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	107	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGTGTACCTGGAAGTCTTCAG	0.398000													60	74					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475910	82475910	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82475910G>A	ENST00000423517.2	-	12	14141	c.13804C>T	c.(13804-13806)Ctg>Ttg	p.L4602L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.L4602L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4490	C2 1.				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						TGAAGTTCCAGATGCTGGGAA	0.338000													10	51					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051641	96051641	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:96051641G>T	ENST00000297954.4	+	20	4716	c.4716G>T	c.(4714-4716)ggG>ggT	p.G1572G	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.G1535G|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.G1147G|WNK2_ENST00000349097.3_Silent_p.G1184G			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1572					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						AGTCGGATGGGGAAGGGCCGC	0.706000													11	25					1.58986e-06	1.59623e-06	1	1	0
BEND4	389206	broad.mit.edu	37	4	42145705	42145705	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:42145705G>T	ENST00000502486.1	-	3	1373	c.794C>A	c.(793-795)cCa>cAa	p.P265Q	BEND4_ENST00000504360.1_Missense_Mutation_p.P261Q	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	265										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGAGGGGTTTGGAGTTGGAAA	0.493000													14	36					1.3612e-06	1.36689e-06	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11676536	11676536	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:11676536C>T	ENST00000423059.3	-	2	494	c.243G>A	c.(241-243)acG>acA	p.T81T	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	81	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACAGCCCTCGTTTGGATGC	0.458000										HNSCC(18;0.044)			16	152					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38228528	38228528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:38228528G>A	ENST00000558158.1	+	3	158	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TMCO5A_ENST00000559502.1_Missense_Mutation_p.E2K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E2K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E2K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	2						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGAGAAAATGGAAATCTCAAG	0.388000													24	62					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49294393	49294393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49294393C>T	ENST00000438782.1	+	8	1699	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	CCDC36_ENST00000296449.5_Missense_Mutation_p.P488L|CCDC36_ENST00000452691.2_Missense_Mutation_p.P488L			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	488										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTCAAAGCCCCTTCCTGGGG	0.522000													6	443					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004025	34004025	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:34004025G>A	ENST00000374181.3	-	8	2031	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	GRM4_ENST00000455714.2_Missense_Mutation_p.S481L|GRM4_ENST00000538487.1_Missense_Mutation_p.S621L|GRM4_ENST00000544773.1_Missense_Mutation_p.S452L|GRM4_ENST00000374177.3_Missense_Mutation_p.S505L|GRM4_ENST00000535756.1_Missense_Mutation_p.S488L|GRM4_ENST00000545715.1_Missense_Mutation_p.S313L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	621					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			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)	TTCACGGCCCGAGGCCTTGAC	0.627000													19	66					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269363	123269363	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123269363G>A	ENST00000451558.1	+	12	1836	c.1315G>A	c.(1315-1317)Ggc>Agc	p.G439S	ASB15_ENST00000434204.1_Missense_Mutation_p.G439S|ASB15_ENST00000540573.1_Missense_Mutation_p.G439S|ASB15_ENST00000451215.1_Missense_Mutation_p.G439S|ASB15_ENST00000275699.3_Missense_Mutation_p.G439S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	439					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCTGAATAATGGCTATCAAGT	0.428000													9	299					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	G	A	rs145920072	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13923485G>A	ENST00000265104.4	-	4	446	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	114	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome				55	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594551	179594551	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179594551C>T	ENST00000589042.1	-	63	18653	c.18429G>A	c.(18427-18429)ggG>ggA	p.G6143G	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G5826G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G4899G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5826	Ig-like 42.						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)			TTATTTCATTCCCGTCTAGAT	0.433000													6	88					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063379	170063379	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170063379G>A	ENST00000263816.3	-	39	7136	c.6851C>T	c.(6850-6852)aCt>aTt	p.T2284I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2284					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCAAAAACAGTGATGCCATA	0.393000													56	83					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	42995055	42995055	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:42995055C>T	ENST00000294973.6	-	8	699	c.644G>A	c.(643-645)gGg>gAg	p.G215E		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	215	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GCTGCCTTGCCCATAGGCGAT	0.617000													52	99					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695019	42695019	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:42695019G>A	ENST00000230882.4	+	5	457	c.266_splice	c.e5-1	p.R89_splice	GHR_ENST00000357703.3_Splice_Site_p.R67_splice|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	89			R -> K (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCATTTTAGGAACactcaag	0.353000													8	43					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657528	143657528	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143657528C>T	ENST00000392899.1	+	1	502	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTTCATCAGCTCTCCTGTGC	0.527000													52	118					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89662928	89662928	+	Missense_Mutation	SNP	C	C	T	rs143237823		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89662928C>T	ENST00000355754.6	-	2	197	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	34						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTCAGCTGCTCTTCCTGGTTT	0.438000													42	75					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250720	37250720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37250720C>T	ENST00000373491.3	+	5	810	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	222	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AACCTGGAGACTCCTGTCGGT	0.488000													35	37					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141815	133141815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000519445.1_Silent_p.S759S|KCNQ3_ENST00000521134.1_Silent_p.S651S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					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)			AGATTCGGTCCGAGTAGGGGC	0.607000													4	67					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80395077	80395077	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80395077T>A	ENST00000337014.6	+	8	1211	c.737T>A	c.(736-738)tTt>tAt	p.F246Y	HEXDC_ENST00000327949.9_Missense_Mutation_p.F246Y|HEXDC_ENST00000577944.1_Missense_Mutation_p.F246Y	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	246					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGTGCGGCTTTCCGCAGCTG	0.667000													117	387					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355288	42355288	+	Missense_Mutation	SNP	C	C	T	rs138384319		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42355288C>T	ENST00000373003.1	-	1	350	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	GTSF1L_ENST00000373005.2_Missense_Mutation_p.R16Q	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	16							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGTGGGATTCGGTGGTGAGG	0.488000													14	190					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050427	49050427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49050427C>T	ENST00000395474.3	+	2	1830	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.P436L|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	487					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TACCTGCTGCCCCCAAGCAAG	0.617000													27	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087657	9087657	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9087657G>A	ENST00000397910.4	-	1	4361	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1386	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						TTGTGTCTGTGATGGTCCATG	0.468000													41	80					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48810501	48810501	+	Missense_Mutation	SNP	G	G	A	rs147886817		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48810501G>A	ENST00000265563.8	-	6	832	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R195C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R195C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	195					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCAACAGAGCGGGTTTGATTA	0.383000													33	87					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845343	62845343	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:62845343C>T	ENST00000512091.1	+	17	3411	c.2664C>T	c.(2662-2664)tcC>tcT	p.S888S	LPHN3_ENST00000511324.1_Silent_p.S956S|LPHN3_ENST00000506746.1_Silent_p.S956S|LPHN3_ENST00000514157.1_Silent_p.S888S|LPHN3_ENST00000507164.1_Silent_p.S956S|LPHN3_ENST00000508946.1_Silent_p.S888S|LPHN3_ENST00000507625.1_Silent_p.S956S|LPHN3_ENST00000545650.1_Silent_p.S888S|LPHN3_ENST00000514996.1_Silent_p.S888S|LPHN3_ENST00000514591.1_Silent_p.S888S|LPHN3_ENST00000506720.1_Silent_p.S956S|LPHN3_ENST00000504896.1_Silent_p.S888S|LPHN3_ENST00000509896.1_Silent_p.S956S|LPHN3_ENST00000506700.1_Silent_p.S888S|LPHN3_ENST00000508693.1_Silent_p.S956S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	875					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						TTTTGCTGTCCCTTGTTTGTC	0.473000													73	205					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28818192	28818192	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:28818192C>T	ENST00000373839.3	+	12	2170	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.L647F	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	637							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGAACTCCTTGCCAGGAA	0.468000													59	108					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154061998	154061998	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154061998G>A	ENST00000368559.3	-	16	2331	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R754C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	754						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAAATGAAGCGAACCTGCAAA	0.498000													64	165					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47980154	47980154	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47980154G>A	ENST00000338134.3	-	10	1012	c.905C>T	c.(904-906)cCc>cTc	p.P302L	KPTN_ENST00000536339.1_Missense_Mutation_p.P62L	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	302					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GTCACTGCCGGGCAGGAGAAG	0.597000													3	9					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158233903	158233903	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:158233903G>A	ENST00000296526.7	+	4	867	c.542G>A	c.(541-543)gGa>gAa	p.G181E	GRIA2_ENST00000393815.2_Missense_Mutation_p.G134E|GRIA2_ENST00000264426.9_Missense_Mutation_p.G181E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G134E|GRIA2_ENST00000507898.1_Missense_Mutation_p.G134E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	181					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCAATGTGGGAAACATTAAC	0.408000													7	84					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576618	115576618	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115576618C>T	ENST00000256592.1	+	3	255	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TSHB_ENST00000369517.1_Missense_Mutation_p.P63S	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	63					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		ACTGTTTCTTCCCAAATATGC	0.383000													57	190					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39995876	39995876	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39995876C>T	ENST00000205143.4	+	6	885	c.878C>T	c.(877-879)cCc>cTc	p.P293L	DLL3_ENST00000356433.5_Missense_Mutation_p.P293L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	293	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGAGACACCCAGGTCCTTT	0.592000													40	77					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039857	17039857	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17039857G>A	ENST00000443236.1	-	24	3211	c.3180C>T	c.(3178-3180)tcC>tcT	p.S1060S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1013						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTTGCTGGTGGAGATCCATG	0.582000													23	34					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876221	4876221	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4876221G>A	ENST00000399583.3	-	3	738	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RADIL_ENST00000536091.1_Missense_Mutation_p.A184V|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	184					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCCTCCGGGCCTGGGCGTT	0.652000													24	47					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99997546	99997546	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99997546C>T	ENST00000453419.1	+	6	870	c.671C>T	c.(670-672)tCt>tTt	p.S224F	PILRA_ENST00000198536.2_3'UTR|PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_3'UTR	NM_178272.1	NP_840056.1	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	0					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACAGCCCTCTCAAGACTGA	0.582000													49	159					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161472	73161472	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:73161472C>T	ENST00000286657.4	-	19	2658	c.2622G>A	c.(2620-2622)agG>agA	p.R874R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	874	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATCACTTTTCCTACGGCATC	0.373000													9	149					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53905375	53905375	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53905375C>T	ENST00000396408.3	+	3	190	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	ZNF765_ENST00000594030.1_Silent_p.L25L	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTGGAAATGCCTGGACCCTGC	0.493000													19	150					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395315	115395315	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:115395315G>A	ENST00000393780.3	+	3	1062	c.594G>A	c.(592-594)aaG>aaA	p.K198K	GAP43_ENST00000305124.6_Silent_p.K162K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	162					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCCCAGCCAAGGAGGAGCCTA	0.602000													4	72					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261751	25261751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:25261751C>T	ENST00000395990.2	-	17	2019	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	CASC1_ENST00000395987.3_Missense_Mutation_p.E634K|CASC1_ENST00000354189.5_Intron|CASC1_ENST00000320267.9_Missense_Mutation_p.E628K|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000545133.1_Missense_Mutation_p.E569K	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	628										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTAAGGTGTTCCCTCACCTAA	0.363000													13	21					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794640	42794640	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42794640C>T	ENST00000572681.2	+	11	4515	c.4447C>T	c.(4447-4449)Cca>Tca	p.P1483S	CIC_ENST00000160740.3_Missense_Mutation_p.P574S|CIC_ENST00000575354.2_Missense_Mutation_p.P574S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTACGGCCCCCACCCCCTGG	0.667000			"""Mis, F, S"""		oligodendroglioma								61	95					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589409	136589409	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136589409G>A	ENST00000531224.1	-	10	2540	c.2288C>T	c.(2287-2289)tCt>tTt	p.S763F	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S763F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S590F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S761F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S761F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S761F|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	763	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTTCTCGAGAACTGGGAGA	0.378000													26	146					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918812	15918812	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15918812G>A	ENST00000334920.2	-	1	124	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGACGAGGATGAATTGGGTCA	0.537000													54	104					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26484648	26484648	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26484648G>A	ENST00000256737.3	+	4	1237	c.385G>A	c.(385-387)Gac>Aac	p.D129N	ANO3_ENST00000525139.1_Missense_Mutation_p.D113N|ANO3_ENST00000537978.1_Missense_Mutation_p.D113N|ANO3_ENST00000531646.1_Missense_Mutation_p.D129N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	129						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCATTAATGACTTTGTTAT	0.303000													20	37					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8794800	8794800	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:8794800G>A	ENST00000316793.3	-	4	1657	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	345					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GAGCAGCACAGGAAGCGCTGC	0.597000													38	81					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075055	113075055	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113075055G>A	ENST00000316851.7	+	2	145	c.145G>A	c.(145-147)Gga>Aga	p.G49R	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G58R	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	59	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|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)		CTCCCCCAATGGAGAAAAGCT	0.473000													14	11					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802121	185802121	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:185802121C>T	ENST00000302277.6	+	4	2592	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	666						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATCCATATCCTTAAGTGACA	0.318000													36	103					0	0	1	0	0
SNRPB2	6629	broad.mit.edu	37	20	16721044	16721044	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:16721044C>T	ENST00000246071.6	+	6	720	c.504C>T	c.(502-504)tcC>tcT	p.S168S	SNRPB2_ENST00000377943.5_Silent_p.S168S	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	168	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TGATGTTATCCATGCTGTTTA	0.343000													4	129					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539216	55539216	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55539216C>T	ENST00000220676.1	+	4	2922	c.2774C>T	c.(2773-2775)cCa>cTa	p.P925L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	925					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)			AACATAAATCCATATCCAACT	0.333000													34	51					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408636	40408636	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40408636G>A	ENST00000221347.6	-	8	4210	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1401	VWFD 3.					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)			TGGGCTTCTGGAAGTCATCCT	0.612000													6	173					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446865	102446865	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102446865C>T	ENST00000360184.4	+	5	1103	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	313	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|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						TCCATGCCACCGTCAGTTTTG	0.428000													13	35					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346339	346339	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:346339C>T	ENST00000343164.4	-	6	733	c.681G>A	c.(679-681)gtG>gtA	p.V227V	SLC6A13_ENST00000445055.2_Silent_p.V135V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	227					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGTGGACTTCACCCCCTTCC	0.637000													54	126					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996554	140996554	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140996554G>A	ENST00000285879.4	+	4	3650	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.D189N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1122							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)					TGACACCACAGATGATTCGAC	0.483000										HNSCC(15;0.026)			20	73					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749558	6749558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6749558G>A	ENST00000229243.2	-	7	1301	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.P370L	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	403						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GCTGACAAAGGGAGTCTTGTG	0.617000													19	46					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43412005	43412005	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43412005C>T	ENST00000187910.2	-	4	773	c.706_splice	c.e4-1	p.P236_splice	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Splice_Site_p.P236_splice	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGGCAGCTTCGCTGTGTGGA	0.493000													92	158					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166011048	166011048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166011048G>A	ENST00000360093.3	-	11	1785	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Q432*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Q432*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	432						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGGTGGCCTGATTCTGCTCC	0.433000													39	92					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196868	31196868	+	Nonsense_Mutation	SNP	G	G	A	rs104894790		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:31196868G>A	ENST00000357033.4	-	70	10347	c.10141C>T	c.(10141-10143)Cga>Tga	p.R3381*	DMD_ENST00000474231.1_Nonsense_Mutation_p.R921*|DMD_ENST00000378680.2_Nonsense_Mutation_p.R313*|DMD_ENST00000378702.4_Nonsense_Mutation_p.R313*|DMD_ENST00000361471.4_Nonsense_Mutation_p.R313*|DMD_ENST00000378707.3_Nonsense_Mutation_p.R921*|DMD_ENST00000343523.2_Nonsense_Mutation_p.R921*|DMD_ENST00000359836.1_Nonsense_Mutation_p.R921*|DMD_ENST00000378723.3_Nonsense_Mutation_p.R313*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R3377*|DMD_ENST00000541735.1_Nonsense_Mutation_p.R921*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3381	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTTGGTTCGAAATTTGTTT	0.438000													41	28					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38065833	38065833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38065833C>T	ENST00000463876.1	-	1	445	c.92G>A	c.(91-93)aGg>aAg	p.R31K	PLCD1_ENST00000334661.4_Intron	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	0	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTTACCCAGCCTCCGTCCATT	0.667000													14	33					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502556	130502556	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130502556C>T	ENST00000314830.8	-	10	2294	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	SH2D3C_ENST00000420366.1_Silent_p.K569K|SH2D3C_ENST00000373276.3_Silent_p.K659K|SH2D3C_ENST00000429553.1_Silent_p.K373K|SH2D3C_ENST00000373277.4_Silent_p.K570K|SH2D3C_ENST00000373274.3_Silent_p.K567K	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	727	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTGAGGCTCTTGAGAAAAG	0.572000													7	134					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150847332	150847332	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150847332C>T	ENST00000243389.3	+	7	792	c.569C>T	c.(568-570)cCt>cTt	p.P190L	SLC36A1_ENST00000520701.1_Missense_Mutation_p.P190L|SLC36A1_ENST00000429484.2_Missense_Mutation_p.P190L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.P190L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	190					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATTCTGACGCCTACCATGGAC	0.532000													49	106					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811773	32811773	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32811773C>T	ENST00000380250.3	+	44	6564	c.6068C>T	c.(6067-6069)tCc>tTc	p.S2023F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTCATCCTCCTTGAAGGAC	0.527000													14	34					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12867044	12867044	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12867044T>A	ENST00000456430.2	+	12	3157	c.3116T>A	c.(3115-3117)gTg>gAg	p.V1039E	CAND2_ENST00000295989.5_Missense_Mutation_p.V922E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1039					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACTCAGCTGTGCACAACAAG	0.602000													5	20					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857425	210857425	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:210857425C>T	ENST00000367007.4	-	11	2256	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.R723Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	723	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R723Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCATTCTTTCGTTTCATGCG	0.552000													39	65					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151921545	151921545	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151921545G>A	ENST00000355193.2	-	19	3351	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1045S					lysine (K)-specific methyltransferase 2C																		CCTCCTTTGGGAACTGTCTGC	0.458000													46	108					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31512027	31512027	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31512027G>A	ENST00000327237.2	-	3	480	c.441C>T	c.(439-441)atC>atT	p.I147I	C16orf58_ENST00000570164.1_Silent_p.I147I|C16orf58_ENST00000430477.2_Silent_p.I5I|C16orf58_ENST00000567994.1_Silent_p.I102I			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	147						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AGGCAAAGACGATGCGGCCCA	0.537000													26	41					0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713578	138713578	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138713578G>A	ENST00000275766.1	-	3	641	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	210										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TAAGCTGATGGGACCGTTTGC	0.423000													25	75					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34512153	34512153	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:34512153C>T	ENST00000242317.4	+	14	1529	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	453					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AACTTCTTCTCTGTGTCATCT	0.502000									Kartagener syndrome				58	125					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252826	185252826	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:185252826C>T	ENST00000296252.4	-	2	285	c.144G>A	c.(142-144)agG>agA	p.R48R	LIPH_ENST00000424591.2_Silent_p.R48R	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	48					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCAGGTTTTTCCTTGTGTAGA	0.473000													6	195					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825446	117825446	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117825446G>A	ENST00000350763.4	-	13	4194	c.3783C>T	c.(3781-3783)aaC>aaT	p.N1261N	TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.N1261N|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1261	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACTGTGAGGTTTCCCATAT	0.502000													15	39					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459748	142459748	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142459748C>T	ENST00000486171.1	+	4	383	c.366C>T	c.(364-366)atC>atT	p.I122I	PRSS1_ENST00000311737.7_Silent_p.I108I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	108	Peptidase S1.		R -> C (in PCTT; suppresses an autocleavage site).|R -> H (in PCTT; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACAATGACATCATGTTAATCA	0.542000													84	303					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998390	144998390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144998390C>T	ENST00000322810.4	-	31	6287	c.6118G>A	c.(6118-6120)Gac>Aac	p.D2040N	PLEC_ENST00000356346.3_Missense_Mutation_p.D1889N|PLEC_ENST00000354589.3_Missense_Mutation_p.D1903N|PLEC_ENST00000398774.2_Missense_Mutation_p.D1871N|PLEC_ENST00000527096.1_Missense_Mutation_p.D1926N|PLEC_ENST00000436759.2_Missense_Mutation_p.D1930N|PLEC_ENST00000354958.2_Missense_Mutation_p.D1881N|PLEC_ENST00000345136.3_Missense_Mutation_p.D1903N|PLEC_ENST00000357649.2_Missense_Mutation_p.D1907N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2040	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.D2040Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCGCTGTCCGATGCCTTG	0.697000													25	47					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40539330	40539330	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:40539330G>A	ENST00000324817.1	-	21	2784	c.2666C>T	c.(2665-2667)cCg>cTg	p.P889L	MED14_ENST00000496531.1_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	889					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCAACATCGGCACAGTGGG	0.478000													22	30					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031517	38031517	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38031517G>A	ENST00000377940.3	+	6	792	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	ZPBP2_ENST00000348931.4_Missense_Mutation_p.R240Q|ZPBP2_ENST00000584588.1_Missense_Mutation_p.R167Q	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	240					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAAGAGATCGAATAGAAGAC	0.353000													34	62					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755735	39755735	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:39755735G>A	ENST00000442448.1	-	11	1250	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	ERG_ENST00000417133.2_Missense_Mutation_p.P351S|ERG_ENST00000398907.1_Missense_Mutation_p.P321S|ERG_ENST00000288319.7_Missense_Mutation_p.P344S|ERG_ENST00000398919.2_Missense_Mutation_p.P351S|ERG_ENST00000453032.2_Missense_Mutation_p.P252S|ERG_ENST00000398911.1_Missense_Mutation_p.P327S|ERG_ENST00000398910.1_Missense_Mutation_p.P328S|ERG_ENST00000398905.1_Missense_Mutation_p.P320S|ERG_ENST00000398897.1_Missense_Mutation_p.P228S	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	351					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ACCTCGTCGGGATCCGTCATC	0.582000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								30	98					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95654294	95654294	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:95654294G>A	ENST00000433389.2	+	2	433	c.243G>A	c.(241-243)ctG>ctA	p.L81L	ESRP1_ENST00000454170.2_Silent_p.L81L|ESRP1_ENST00000358397.5_Silent_p.L81L|ESRP1_ENST00000423620.2_Silent_p.L81L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	81					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGTCGCAGCTGGACCAAGCCC	0.627000													19	91					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322305	5322305	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5322305A>G	ENST00000380224.1	-	1	921	c.872T>C	c.(871-873)aTc>aCc	p.I291T	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGGTCTTGATGCTATAAAT	0.423000													37	38					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112537	145112537	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145112537C>T	ENST00000426825.1	-	10	1317	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	412							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGTTCTCTCCCGGCCCAAAAA	0.647000													19	40					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108111	32108111	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32108111G>A	ENST00000327423.6	-	4	5903	c.5714C>T	c.(5713-5715)tCc>tTc	p.S1905F	PRR14L_ENST00000397493.2_Missense_Mutation_p.S1905F|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1905F	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1905										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCAGTGAGGGGAATGAAGAGA	0.507000													49	97					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176309	8176309	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:8176309G>C	ENST00000520004.1	-	6	3840	c.3576C>G	c.(3574-3576)gcC>gcG	p.A1192A	SGK223_ENST00000330777.4_Silent_p.A1192A			Q86YV5	SG223_HUMAN		1192	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGCGGGGCCGGCTGCGGGGC	0.771000													3	8					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76942809	76942809	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76942809G>A	ENST00000257626.7	-	28	2345	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.P77L	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TATTACCGGAGGAAGCCGCAC	0.343000													13	41					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614352	247614352	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247614352C>T	ENST00000318749.6	-	1	956	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R311R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCTCCAGATCCTGGCCAGAA	0.453000													230	250					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39161468	39161468	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:39161468G>A	ENST00000331366.5	-	8	640	c.544C>T	c.(544-546)Ctt>Ttt	p.L182F	CPNE8_ENST00000360449.3_Missense_Mutation_p.L170F	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	182	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TAAAATACAAGGAAAGGATCT	0.294000													37	83					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631569	141631569	+	Missense_Mutation	SNP	G	G	A	rs140946328	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141631569G>A	ENST00000546910.1	-	6	599	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	CLEC5A_ENST00000438351.1_Missense_Mutation_p.R112C|CLEC5A_ENST00000439991.1_Missense_Mutation_p.R31C|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.R112C	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	135	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.R135S(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTCTCTTCACGATGGTAAATT	0.373000													15	230					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994883	140994883	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140994883C>T	ENST00000285879.4	+	4	1979	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	565							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)					TCACTACTTTCCTCAGAGCCC	0.572000										HNSCC(15;0.026)			216	112					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141424967	141424967	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141424967C>T	ENST00000397541.2	+	9	1769	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	455	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TCCTCAGGAGCTCTCAGAAAG	0.473000													31	111					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	404924	404924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:404924G>A	ENST00000399788.2	-	26	4632	c.4270C>T	c.(4270-4272)Cct>Tct	p.P1424S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1424S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1424					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGCACCAAAGGGCTCTTCCGA	0.428000			T	NUP98	AML								69	127					0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43970834	43970834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43970834C>T	ENST00000336600.5	+	4	720	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	234								p.R234C(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCGGCGCTCCGCGGCGCTGG	0.667000													4	93					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888437	191888437	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:191888437G>A	ENST00000454309.2	-	4	1248	c.423C>T	c.(421-423)ttC>ttT	p.F141F	FGF12_ENST00000445105.1_Silent_p.F79F|FGF12_ENST00000264730.3_Silent_p.F79F|FGF12_ENST00000450716.1_Silent_p.F79F|FGF12_ENST00000430714.1_Silent_p.F42F	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	141					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ATTCTGGAGTGAAAACATCCT	0.363000													61	122					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455881	179455881	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179455881T>G	ENST00000589042.1	-	304	60795	c.60571A>C	c.(60571-60573)Atc>Ctc	p.I20191L	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I11251L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I18550L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I17623L|TTN_ENST00000460472.2_Missense_Mutation_p.I11126L|TTN_ENST00000342175.6_Missense_Mutation_p.I11318L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18550	Fibronectin type-III 46.						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)			TGCCATGAGATAGTCATGTGT	0.438000													8	196					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371563	55371563	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55371563A>T	ENST00000302231.4	-	1	311	c.287T>A	c.(286-288)aTg>aAg	p.M96K		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GACTTGTGTCATGCACTCATT	0.413000													7	137					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129203580	129203580	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:129203580G>A	ENST00000308167.5	-	8	1261	c.882C>T	c.(880-882)ccC>ccT	p.P294P	ELF4_ENST00000335997.7_Silent_p.P294P	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	294				MP -> IA (in Ref. 2; AAC17452).	natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGGTCCTTGGGCATCTCCT	0.577000			T	ERG	AML								81	74					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657729	20657729	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20657729G>A	ENST00000428453.1	-	0	2229																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCACCAGGAGGAAGTGGGCT	0.607000													14	20					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68558045	68558045	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:68558045C>T	ENST00000502604.1	+	7	752	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	CDK7_ENST00000514676.1_Missense_Mutation_p.P144S|CDK7_ENST00000256443.3_Missense_Mutation_p.P181S|CDK7_ENST00000513629.1_3'UTR			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	181	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTATCGGGCCCCCGAGTTACT	0.393000								Nucleotide excision repair (NER)					67	97					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740406	37740406	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37740406C>T	ENST00000539465.1	+	15	2474	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.F449F|FRMPD1_ENST00000377765.3_Silent_p.F627F|FRMPD1_ENST00000541302.1_Silent_p.F496F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	627						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTCCACCTTCTTCCACTTTG	0.587000													28	52					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891278	18891278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18891278G>A	ENST00000317658.3	+	1	234	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	26					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCTCCAGGGGAATTTGTAAA	0.458000													43	68					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123317484	123317484	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123317484G>A	ENST00000296513.2	+	7	861	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.E226K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E208K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	226					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAATCGTTCAGAATACCTGAA	0.269000													35	70					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179497494	179497494	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:179497494C>T	ENST00000367618.3	+	23	3030	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	881	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAAAAACTCATTCGATTCA	0.438000													34	71					0	0	1	0	0
RCAN1	1827	broad.mit.edu	37	21	35890552	35890552	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:35890552C>T	ENST00000481448.1	-	5	1045	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RCAN1_ENST00000482533.1_Missense_Mutation_p.E62K|RCAN1_ENST00000399272.1_Missense_Mutation_p.E116K|RCAN1_ENST00000443408.2_Missense_Mutation_p.E62K|RCAN1_ENST00000313806.4_Missense_Mutation_p.E197K|RCAN1_ENST00000487990.1_Missense_Mutation_p.E62K|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.E187K|RCAN1_ENST00000381132.2_Missense_Mutation_p.E142K			P53805	RCAN1_HUMAN	regulator of calcineurin 1	197					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCATACTTTTCCCCTAAGGAG	0.498000													17	41					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906494	71906494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71906494G>A	ENST00000393679.1	+	3	784	c.348G>A	c.(346-348)tgG>tgA	p.W116*	FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W116*|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W116*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W116*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	116					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TGGGGCCCTGGATCCAGCAGG	0.572000													128	226					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123539772	123539772	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:123539772G>A	ENST00000334268.4	-	40	2457	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S	TRDN_ENST00000398178.3_Missense_Mutation_p.P722S			Q13061	TRDN_HUMAN	triadin	722					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTGTCCTGGAGAATTTGCT	0.438000													28	13					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54969184	54969184	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54969184G>A	ENST00000316881.4	-	9	1819	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TRIM25_ENST00000537230.1_Silent_p.F590F|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	590	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAACAGCGAAGAAGATGACAA	0.542000													35	82					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765976	18765976	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:18765976G>A	ENST00000304081.4	-	4	627	c.527C>T	c.(526-528)tCg>tTg	p.S176L	NT5C1B_ENST00000600945.1_Missense_Mutation_p.S236L|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S236L|NT5C1B_ENST00000359846.2_Missense_Mutation_p.S236L	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGACGTGCGCGAATATTCCAG	0.662000													10	27					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63277294	63277294	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63277294C>T	ENST00000415491.2	+	3	914	c.300C>T	c.(298-300)ctC>ctT	p.L100L	LGALS12_ENST00000340246.5_Silent_p.L162L|LGALS12_ENST00000394618.3_Silent_p.L161L|LGALS12_ENST00000255684.5_Silent_p.L161L|LGALS12_ENST00000425950.2_Silent_p.L100L	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	161	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTACCGGCTCCCACTGTCTC	0.493000													31	61					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481780	52481780	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:52481780G>A	ENST00000216286.5	-	15	3241	c.3242C>T	c.(3241-3243)aCc>aTc	p.T1081I	NID2_ENST00000541773.1_Missense_Mutation_p.T980I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1081	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACGCAGGGGTGGTGCCTGG	0.632000													6	27					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121267574	121267574	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121267574G>A	ENST00000297848.3	+	23	3118	c.2848G>A	c.(2848-2850)Gtt>Att	p.V950I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V950I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V855I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	950	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGCCTATAGGGTTGTTATAGA	0.453000													7	205					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95905681	95905681	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:95905681C>T	ENST00000323666.5	+	9	1204	c.975C>T	c.(973-975)atC>atT	p.I325I	METAP2_ENST00000546753.1_Silent_p.I302I|METAP2_ENST00000551840.1_Silent_p.I324I|METAP2_ENST00000550777.1_Silent_p.I289I|METAP2_ENST00000261220.9_Silent_p.I302I	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	325					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TGAAACCAATCCGTAATCTAA	0.368000													9	25					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133476662	133476662	+	Missense_Mutation	SNP	C	C	T	rs138539550		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133476662C>T	ENST00000402696.3	+	8	1405	c.920C>T	c.(919-921)cCt>cTt	p.P307L	TF_ENST00000264998.3_Missense_Mutation_p.P180L	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	307	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTCAGCTCTCCTCATGGGAAG	0.448000													38	72					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084588	107084588	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107084588C>T	ENST00000262843.6	+	2	1241	c.693C>T	c.(691-693)tcC>tcT	p.S231S	MID2_ENST00000443968.2_Silent_p.S231S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	231						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGGTCGCATCCCTGAATGATC	0.428000													35	20					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38260559	38260559	+	Missense_Mutation	SNP	G	G	A	rs72556260		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:38260559G>A	ENST00000039007.4	+	5	570	c.418G>A	c.(418-420)Gct>Act	p.A140T	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	140			A -> P (in OTCD; late onset).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TGCAGTATTGGCTCGAGTGTA	0.373000													21	10					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910998	57910998	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57910998C>T	ENST00000366197.5	+	3	1593	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.P460L|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCTTACGAGTGC	0.463000													33	49					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316269	151316269	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151316269G>A	ENST00000290524.4	-	9	823	c.645C>T	c.(643-645)atC>atT	p.I215I	RFX5_ENST00000452513.2_Silent_p.I175I|RFX5_ENST00000368870.2_Silent_p.I215I|RFX5_ENST00000452671.2_Silent_p.I215I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	215						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGTTTCAGGATCCGCTCTG	0.587000													48	188					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230994	13230994	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:13230994C>T	ENST00000378694.1	+	9	1404	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	MCM10_ENST00000378714.3_Silent_p.A443A|MCM10_ENST00000484800.2_Silent_p.A444A			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	444					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAAGTTTGCCCGCAGAGGCA	0.527000													92	171					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12321191	12321191	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12321191C>T	ENST00000358136.3	+	12	1529	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P467S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	467					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGTGGATTCCTGAAGAGAT	0.502000													9	216					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166795147	166795147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166795147C>T	ENST00000061240.2	+	1	738	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	TLL1_ENST00000507499.1_Missense_Mutation_p.L31F|TLL1_ENST00000513213.1_Missense_Mutation_p.L31F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	31					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGCGCTGGCCTCGATTATGA	0.542000													10	310					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944422	40944422	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:40944422G>A	ENST00000373198.3	-	12	2315	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S	PTPRT_ENST00000373190.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P694S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P694S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P694S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	694	Fibronectin type-III 4.				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)				GGAGAGAGAGGAGGGTTCCAG	0.502000													6	122					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7050876	7050876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:7050876C>T	ENST00000389658.3	-	4	498	c.405G>A	c.(403-405)tgG>tgA	p.W135*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	135	Laminin N-terminal.				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)	GCTCCAAAATCCAGTTTCCAG	0.448000													54	41					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964519	100964519	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:100964519G>A	ENST00000336454.3	+	15	1811	c.1456G>A	c.(1456-1458)Ggg>Agg	p.G486R	CDC14A_ENST00000361544.6_Missense_Mutation_p.G486R|CDC14A_ENST00000542213.1_Missense_Mutation_p.G428R|CDC14A_ENST00000544534.1_Missense_Mutation_p.G486R|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	486					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CAGTTCTCTAGGGAACTTGAA	0.468000													6	64					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60889996	60889996	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:60889996G>A	ENST00000252999.3	-	60	8121	c.8055C>T	c.(8053-8055)acC>acT	p.T2685T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2685	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTCTCCAGGGTGGACACTG	0.692000													46	104					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38876460	38876460	+	Silent	SNP	C	C	T	rs111256651		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38876460C>T	ENST00000274276.3	+	3	633	c.231C>T	c.(229-231)tcC>tcT	p.S77S	OSMR_ENST00000502536.1_Silent_p.S77S	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	77					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGAAACATCCAATGTCATCT	0.338000													19	130					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129486763	129486763	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:129486763G>A	ENST00000421865.2	+	9	1298	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	417	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGTCATTGCGATCCAATTGG	0.383000													19	30					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807150	143807150	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143807150G>A	ENST00000408979.2	+	1	544	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTGGTACATGAAATTCTCCT	0.542000													54	173					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385331	108385331	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:108385331C>T	ENST00000265843.4	-	6	1013	c.903G>A	c.(901-903)agG>agA	p.R301R	EXPH5_ENST00000525344.1_Silent_p.R294R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R225R|EXPH5_ENST00000443411.1_Silent_p.R113R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	301					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGGGCTCCCTTGTCCTAT	0.423000													32	34					0	0	1	0	0
MIR520G	574484	broad.mit.edu	37	19	54225508	54225508	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54225508G>A	ENST00000385064.1	+	0	89					NR_030206.1																						TACCGTTTGGGAAAAGCAGTG	0.393000													33	56					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46444045	46444045	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46444045C>T	ENST00000263257.5	-	4	749	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	185	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCTGCTCGGGCTCGCCGCTGA	0.632000													28	32					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849981	57849981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57849981C>T	ENST00000266646.2	+	2	619	c.403C>T	c.(403-405)Cct>Tct	p.P135S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	135					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCCACCCTTCCTGGCACTCT	0.622000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	113	219					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119472	65119472	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65119472G>A	ENST00000371073.2	+	11	1572	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.R473R			Q5VU97	CAHD1_HUMAN	cache domain containing 1	524	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTTACCAGGCCATATTTAT	0.338000													90	152					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093690	30093690	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:30093690C>T	ENST00000567636.1	+	0	2065					NR_003558.1																						CTGTTCCTGTCTCAGTACAAA	0.453000													22	33					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263296	248263296	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248263296C>T	ENST00000366478.2	+	3	956	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	OR2L13_ENST00000358120.2_Missense_Mutation_p.L207F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTCTTTCTCCTTTTCCCTTT	0.443000													8	157					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123066664	123066664	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123066664G>A	ENST00000462833.1	-	3	2583	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ADCY5_ENST00000309879.5_Silent_p.F107F|ADCY5_ENST00000491190.1_Silent_p.F90F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	457					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.F457L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAATCTTATGGAACATCATAT	0.547000													108	232					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161055755	161055755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:161055755C>T	ENST00000283249.2	-	2	313	c.76G>A	c.(76-78)Gga>Aga	p.G26R	ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_Intron|ITGB6_ENST00000409967.2_Missense_Mutation_p.G26R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G26R			P18564	ITB6_HUMAN	integrin, beta 6	26					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGCACCTCCCAGGGCACAG	0.448000													20	65					0	0	1	0	0
CLPP	8192	broad.mit.edu	37	19	6368553	6368553	+	Silent	SNP	C	C	T	rs140294009	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6368553C>T	ENST00000245816.4	+	6	789	c.666C>T	c.(664-666)tcC>tcT	p.S222S	CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Silent_p.S135S	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	222					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						CACCAGAGTCCGCCATGGAGA	0.592000													24	44					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73137971	73137971	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73137971G>A	ENST00000541685.1	-	9	959	c.947C>T	c.(946-948)tCc>tTc	p.S316F	DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.S326F|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	144					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTGACGTGGAACCGAATAA	0.562000													33	53					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16091136	16091136	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:16091136G>A	ENST00000332432.8	-	3	947	c.748C>T	c.(748-750)Cta>Tta	p.L250L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	250						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						AGGGATCCTAGGATTACAGCA	0.438000													9	7					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5672620	5672620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:5672620C>T	ENST00000327087.8	-	26	2913	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	ANO2_ENST00000546188.1_Missense_Mutation_p.E949K|ANO2_ENST00000356134.5_Missense_Mutation_p.E949K			Q9NQ90	ANO2_HUMAN	anoctamin 2	953						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATGCTCCTCTTTCAGGAAG	0.562000													16	26					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391567	5391567	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:5391567G>C	ENST00000399537.4	-	17	5701	c.5353C>G	c.(5353-5355)Ccc>Gcc	p.P1785A	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1785A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1785							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGAGTCCGGGGGGCCGCCAGG	0.632000													22	28					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382158	76382158	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:76382158C>T	ENST00000357063.3	+	11	3155	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	LMO7_ENST00000465261.2_Missense_Mutation_p.S347L|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.S347L|LMO7_ENST00000377534.3_Missense_Mutation_p.S632L			Q8WWI1	LMO7_HUMAN	LIM domain 7	632						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTAGTTCCTTCATATCGGCAG	0.443000													36	30					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182282	140182282	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140182282G>A	ENST00000522353.2	+	1	1500	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G	PCDHA3_ENST00000532566.2_Silent_p.G500G|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGGTGGGGGAGCGCGCGC	0.687000													71	118					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938247	169938247	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169938247G>A	ENST00000327239.4	+	5	1660	c.156G>A	c.(154-156)aaG>aaA	p.K52K	DHRS9_ENST00000602501.1_Silent_p.K52K|DHRS9_ENST00000432060.2_Silent_p.K112K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Silent_p.K52K|DHRS9_ENST00000428522.1_Silent_p.K52K|DHRS9_ENST00000436483.2_Silent_p.K52K|DHRS9_ENST00000412271.1_Silent_p.K52K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	52					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTGATAAAAAGGGATTTCATG	0.418000													46	67					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190159229	190159229	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:190159229G>A	ENST00000354905.2	-	3	222	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	52						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		ATCCTTACCAGATATACCAGC	0.373000													31	74					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12284853	12284853	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:12284853G>A	ENST00000261349.4	-	18	3948	c.3872C>T	c.(3871-3873)tCc>tTc	p.S1291F	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.S1246F|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1291	LDL-receptor class A 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGGAACTGGGACTCTGAGCA	0.502000													44	71					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777759	152777759	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152777759C>T	ENST00000368768.1	-	2	246	c.196G>A	c.(196-198)Gga>Aga	p.G66R	LCE1C_ENST00000607093.1_Missense_Mutation_p.G66R	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	66	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCAGCATCCCCCAGAGCTG	0.672000													102	101					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48245039	48245039	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:48245039A>C	ENST00000394747.1	-	10	1777	c.1428T>G	c.(1426-1428)ttT>ttG	p.F476L	ABCC11_ENST00000537808.1_Missense_Mutation_p.F476L|ABCC11_ENST00000353782.5_Missense_Mutation_p.F476L|ABCC11_ENST00000394748.1_Missense_Mutation_p.F476L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F476L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	476						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGCCTCCTCAAAGACCAGAG	0.527000													15	124					0	0	1	0	0
IGLV10-54	28772	broad.mit.edu	37	22	22569507	22569507	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22569507C>T	ENST00000390287.2	+	0	212																											TCCCAAACTCCTATCCTACAG	0.567000													20	26					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929543	121929543	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:121929543C>T	ENST00000265922.3	-	8	2566	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		702					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCGATTAATTCGGTCCCGAAT	0.567000													52	113					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182817	6182817	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6182817C>T	ENST00000588304.1	+	9	1258	c.812C>T	c.(811-813)cCt>cTt	p.P271L	ACSBG2_ENST00000586696.1_Missense_Mutation_p.P321L|ACSBG2_ENST00000252669.5_Missense_Mutation_p.P321L|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P134L|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P321L|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	321					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGGAGTGCCTCAAATTTGG	0.473000													20	40					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137166	56137166	+	Silent	SNP	C	C	T	rs144697339	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56137166C>T	ENST00000319441.4	+	3	428	c.264C>T	c.(262-264)atC>atT	p.I88I	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	88					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCCAGGATCGAAAGCAAGA	0.562000													27	64					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113892	42113892	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:42113892C>T	ENST00000457542.2	+	24	3115	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P	MAPKBP1_ENST00000260357.7_Silent_p.P782P|MAPKBP1_ENST00000456763.2_Silent_p.P949P|MAPKBP1_ENST00000221214.6_Silent_p.P826P|MAPKBP1_ENST00000514566.1_Silent_p.P943P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	949										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AACCTGCACCCATTGAAGATG	0.567000													43	89					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262728	144262728	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:144262728C>T	ENST00000360537.2	-	5	3138	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	PLAGL1_ENST00000437412.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E409K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E409K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	409					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGCAAAGATTCCCCAGGCCCC	0.627000													19	32					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709037	24709037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24709037G>A	ENST00000267415.7	-	9	1663	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TINF2_ENST00000540705.1_Missense_Mutation_p.S406F|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	441					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACAGTCACAGGAAGAAACAGG	0.453000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				30	68					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23296724	23296724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23296724C>T	ENST00000409458.3	+	4	730	c.581C>T	c.(580-582)tCc>tTc	p.S194F	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000381990.2_Intron|GPNMB_ENST00000539136.1_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	0					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTTACCTTTCCTTAAAATTT	0.393000													11	90					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22932315	22932315	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22932315G>A	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							CATCATGCTGGAAATAAGACT	0.423000													10	16					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123150031	123150031	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123150031G>A	ENST00000466202.1	-	3	1032	c.456C>T	c.(454-456)acC>acT	p.T152T	IQUB_ENST00000324698.6_Silent_p.T152T|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.T152T			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	152	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTTAAGAATGGTATCAACCT	0.308000													129	268					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915578	31915578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31915578G>A	ENST00000456570.1	+	17	2279	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	CFB_ENST00000425368.2_Missense_Mutation_p.E240K|CFB_ENST00000477310.1_Missense_Mutation_p.E591K|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.E742K			P00751	CFAB_HUMAN	complement factor B	240	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTCCCTGACAGAGACCATAGA	0.547000													22	434					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931865	122931865	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:122931865C>T	ENST00000534624.1	-	2	444	c.168G>A	c.(166-168)aaG>aaA	p.K56K	HSPA8_ENST00000227378.3_Silent_p.K56K|HSPA8_ENST00000453788.2_Silent_p.K56K|HSPA8_ENST00000532636.1_Silent_p.K56K|HSPA8_ENST00000526110.1_Silent_p.K56K|HSPA8_ENST00000533540.1_Silent_p.K56K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	56					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAACTTGATTCTTTGCGGCAT	0.428000													37	34					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028537	76028537	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76028537T>G	ENST00000319211.4	+	2	752	c.487T>G	c.(487-489)Ttt>Gtt	p.F163V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	163					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGCTATTACTTTTCCGGCAG	0.488000													34	299					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287188	130287188	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130287188C>T	ENST00000358511.6	+	5	2172	c.2141C>T	c.(2140-2142)cCc>cTc	p.P714L	COL6A6_ENST00000453409.2_Missense_Mutation_p.P714L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	714	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TACTTCAGCCCCACCAAGGGC	0.507000													48	92					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952616	12952616	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:12952616G>A	ENST00000276297.4	-	11	3715	c.3306C>T	c.(3304-3306)ctC>ctT	p.L1102L	DLC1_ENST00000358919.2_Silent_p.L665L|DLC1_ENST00000512044.2_Silent_p.L699L|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.L591L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1102	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATGGTTCCGGAGGTATCGCA	0.567000													32	72					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653482	110653482	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:110653482C>T	ENST00000338081.3	-	2	559	c.388G>A	c.(388-390)Gag>Aag	p.E130K	DCX_ENST00000488120.1_Missense_Mutation_p.E49K|DCX_ENST00000371993.2_Missense_Mutation_p.E49K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.E49K|DCX_ENST00000356220.3_Missense_Mutation_p.E49K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	130					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCTTTCTTCTCATTACTCAGT	0.547000													91	46					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294925	5294925	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:5294925C>T	ENST00000546004.1	-	2	337	c.91G>A	c.(91-93)Ggt>Agt	p.G31S	PROKR2_ENST00000217270.3_Missense_Mutation_p.G31S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	31						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATAATCACCATAACTGAAG	0.502000										HNSCC(71;0.22)			39	80					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911980	23911980	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:23911980A>C	ENST00000382298.3	-	10	6623	c.6035T>G	c.(6034-6036)tTt>tGt	p.F2012C	SACS_ENST00000402364.1_Missense_Mutation_p.F1262C|SACS_ENST00000382292.3_Missense_Mutation_p.F2012C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2012					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTATTTCAAAAATATCTTGAA	0.378000													31	45					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869125	174869125	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:174869125C>A	ENST00000393752.2	-	2	1970	c.978G>T	c.(976-978)ttG>ttT	p.L326F		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	326					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGATGGGGTTCAAGGATGAAT	0.473000													33	94					2.20262e-25	2.22759e-25	1	1	0
ZBED6CL	113763	broad.mit.edu	37	7	150027598	150027598	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150027598G>A	ENST00000343855.4	+	1	661	c.105G>A	c.(103-105)caG>caA	p.Q35Q	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		CACACTTTCAGGAGCAGAGTG	0.647000													92	325					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831651	24831651	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24831651G>A	ENST00000376451.2	+	13	2873	c.2613G>A	c.(2611-2613)cgG>cgA	p.R871R	KIAA1217_ENST00000307544.6_Silent_p.R871R|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Silent_p.R1152R|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.R1188R			Q5T5P2	SKT_HUMAN	KIAA1217	1188					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGATGTACGGAAATCTGATG	0.398000													31	68					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301750	11301750	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11301750G>A	ENST00000397056.1	+	3	1218	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	HRH1_ENST00000431010.2_Missense_Mutation_p.A343T|HRH1_ENST00000438284.2_Missense_Mutation_p.A343T	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	343					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CACACATGGGGCCAGCGAGAT	0.552000													27	85					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622818	74622818	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74622818G>A	ENST00000156626.7	-	5	1425	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	409					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCCGTAGAAGGATGTCCGAGT	0.527000													120	541					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967305	31967305	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31967305G>A	ENST00000357886.4	-	9	1264	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R357C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R267C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R357C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	371					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GAGGTAAAACGGATCCTCATT	0.468000													22	38					0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604146	26604146	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26604146C>T	ENST00000577198.1	-	0	815					NR_028334.1																						GACTCCCATTCCTGCCAGACC	0.602000													39	87					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978278	10978278	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10978278G>A	ENST00000240619.2	-	1	679	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	197					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAAGGGAAATGATTAAAAAAA	0.338000													39	107					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320345	90320345	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90320345C>T	ENST00000341735.3	+	1	757	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	253					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCCTTACTGCCCCAAGATACA	0.687000													8	35					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10291458	10291458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10291458G>A	ENST00000340748.4	-	3	456	c.221C>T	c.(220-222)tCc>tTc	p.S74F	DNMT1_ENST00000359526.4_Missense_Mutation_p.S74F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S74F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	74	Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACTTACCTCGGATAATTCTTC	0.418000													19	33					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751247	14751247	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:14751247G>A	ENST00000284268.6	-	5	948	c.618C>T	c.(616-618)acC>acT	p.T206T	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.T8T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	206					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCACAGGGTGGTGCAGCGCA	0.557000													25	43					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532508	1532508	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1532508G>A	ENST00000381623.3	-	2	1439	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	SIRPD_ENST00000381621.1_Missense_Mutation_p.P84S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	84	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TTTACTCTGGGAAAGTTACCT	0.463000													39	77					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22891824	22891824	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22891824G>A	ENST00000514473.2	-	0	225				TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA																							CTCCATGAAAGGAGAAGCGAT	0.478000													42	85					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187419794	187419794	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:187419794G>A	ENST00000358241.1	-	1	551	c.123C>T	c.(121-123)gcC>gcT	p.A41A		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	41					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TCCAGCCAGGGGCCAGCTCAC	0.597000													68	202					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39414809	39414809	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:39414809C>T	ENST00000378803.1	-	6	693	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	CDKL4_ENST00000395035.3_Missense_Mutation_p.G232R	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	232	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGGAAAAACCCGTTACTTTTA	0.328000													9	47					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796815	109796815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:109796815C>T	ENST00000297459.3	-	2	691	c.513G>A	c.(511-513)ggG>ggA	p.G171G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	171					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.G171G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTATAGACTTCCCTGAAGACG	0.483000													30	82					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739262	46739262	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:46739262C>T	ENST00000306448.4	-	2	1702	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E197K	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	197					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTCGGCTTTCCAAGGTATTT	0.458000													63	127					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89124701	89124701	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:89124701G>A	ENST00000554922.1	-	26	3955	c.3707C>T	c.(3706-3708)gCc>gTc	p.A1236V	EML5_ENST00000352093.5_Missense_Mutation_p.A1198V|EML5_ENST00000380664.5_Missense_Mutation_p.A1236V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1236						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTACTATGGGCCACATACCT	0.353000													42	109					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207696962	207696962	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207696962C>T	ENST00000367049.4	+	5	494	c.494C>T	c.(493-495)cCt>cTt	p.P165L	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.P165L|CR1_ENST00000367052.1_Missense_Mutation_p.P165L|CR1_ENST00000367053.1_Missense_Mutation_p.P165L|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	165	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGGAATTCCTTGTGGGCTA	0.403000													18	62					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32323121	32323121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:32323121C>T	ENST00000306901.3	+	2	173	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	CHRNA7_ENST00000455693.2_5'UTR|CHRNA7_ENST00000454250.3_Nonsense_Mutation_p.Q55*	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	26					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	AGGCGAGTTCCAGAGGAAGCT	0.632000													25	38					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628347	134628347	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134628347C>T	ENST00000368586.5	-	51	7289		c.e51+1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40											breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCCCCACCCACCTTCCTGCCC	0.602000													73	163					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699049	68699049	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:68699049C>T	ENST00000283916.6	-	7	663	c.565G>A	c.(565-567)Gga>Aga	p.G189R	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G72R	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	189	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGTGCCTCCAAGGATTCTC	0.502000													9	241					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138281185	138281185	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138281185C>T	ENST00000421622.1	-	11	1292	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	SVOPL_ENST00000288513.5_Missense_Mutation_p.E330K|SVOPL_ENST00000419765.3_Missense_Mutation_p.E482K|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000436657.1_Missense_Mutation_p.E330K			Q8N434	SVOPL_HUMAN	SVOP-like	482						integral to membrane	transmembrane transporter activity	p.E330K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTTTGGTTTCGATGGGGAGA	0.488000													30	70					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478603	21478603	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:21478603C>T	ENST00000281523.2	-	5	1050	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	178	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGGCTTTTTTCCACTTTAGAG	0.468000													47	106					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10822955	10822955	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10822955C>T	ENST00000250237.5	+	6	775	c.765C>T	c.(763-765)ccC>ccT	p.P255P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	255					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AGGACAAGCCCCGATATCTGA	0.637000													25	66					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593330	102593330	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:102593330G>A	ENST00000236826.3	-	2	275	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	59					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	p.I59I(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GCTTTTCAACGATCACATTAG	0.438000													14	107					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15789169C>T	ENST00000550308.1	+	3	677	c.297C>T	c.(295-297)atC>atT	p.I99I	CYP4F12_ENST00000324632.9_Silent_p.I99I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.I99I(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCCCTTCATCGTTTTATGCC	0.547000													18	233					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16652741	16652741	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16652741G>A	ENST00000546361.2	-	2	290	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.L47F	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	47					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.L47I(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCTCCGAAAAGAAACGAGAAT	0.552000													58	128					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994720	140994720	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140994720C>T	ENST00000285879.4	+	4	1816	c.1530C>T	c.(1528-1530)ccC>ccT	p.P510P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	510							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)					AGGGTTTTCCCCAGTCTCCTC	0.507000										HNSCC(15;0.026)			105	63					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49056508	49056508	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:49056508G>A	ENST00000371839.1	-	10	1217	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	AGBL4_ENST00000334103.7_Silent_p.S100S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	367					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GGCTTACATAGGAGAAGTCCT	0.542000													3	12					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834404	168834404	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:168834404G>A	ENST00000464456.1	-	7	1892	c.692C>T	c.(691-693)tCc>tTc	p.S231F	MECOM_ENST00000433243.2_Missense_Mutation_p.S232F|MECOM_ENST00000460814.1_Missense_Mutation_p.S231F|MECOM_ENST00000494292.1_Missense_Mutation_p.S419F|MECOM_ENST00000392736.3_Missense_Mutation_p.S231F|MECOM_ENST00000264674.3_Missense_Mutation_p.S296F|MECOM_ENST00000472280.1_Missense_Mutation_p.S232F|MECOM_ENST00000468789.1_Missense_Mutation_p.S231F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTATTTAAGGAAGACGTAGT	0.453000													51	132					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850907	77850907	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:77850907G>A	ENST00000302536.2	+	2	476	c.323G>A	c.(322-324)gGg>gAg	p.G108E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	108							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GAGTGTTCTGGGATTGTTGAA	0.433000													57	53					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965219	119965219	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:119965219G>T	ENST00000543831.1	+	4	1344	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E365D	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	365					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.E365D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGCACAAGGAGACCCTGAAGT	0.512000													5	51					0.000602214	0.000603752	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49432442	49432442	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49432442G>A	ENST00000301067.7	-	34	8696	c.8697C>T	c.(8695-8697)ggC>ggT	p.G2899G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGAGGTGGGCCCTGACCAG	0.617000													16	26					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26096142	26096142	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26096142G>A	ENST00000313735.6	-	17	2128	c.1895C>T	c.(1894-1896)cCt>cTt	p.P632L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	632	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCAGAACCGAGGGTACATGCT	0.612000													9	27					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158926	77158926	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:77158926G>A	ENST00000372524.4	-	2	2008	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S	ZNF503_ENST00000535216.1_Missense_Mutation_p.P508S|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGGTCGTTAGGGAGCATAAAG	0.687000													13	43					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167419	17167419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:17167419G>A	ENST00000265970.7	-	6	1630	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A164V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	544					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCTCGTCATGGCTTCTTTGCA	0.328000													64	54					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502334	140502334	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140502334G>A	ENST00000194152.1	+	1	754	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		252	Cadherin 3.				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)			GCAGGTCCTGGAAAACAGCCC	0.478000													7	153					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102788361	102788361	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102788361A>G	ENST00000410023.1	+	8	1140	c.822A>G	c.(820-822)ctA>ctG	p.L274L	IL1R1_ENST00000409288.1_Silent_p.L274L|IL1R1_ENST00000409929.1_Silent_p.L274L|IL1R1_ENST00000233946.3_Silent_p.L274L|IL1R1_ENST00000424272.1_Silent_p.L274L|IL1R1_ENST00000409329.1_Silent_p.L274L|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	274	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACCCAGTGCTAGGGGAAGACT	0.398000													28	92					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325067	150325067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150325067C>T	ENST00000328902.5	-	3	835	c.619G>A	c.(619-621)Gag>Aag	p.E207K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	207							GTP binding			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)		GCCTCCTGCTCCTCCCCCTGT	0.537000													160	364					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31142523	31142523	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31142523C>T	ENST00000543774.2	+	12	1655	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	KAT8_ENST00000219797.4_Silent_p.S440S|KAT8_ENST00000448516.2_3'UTR			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	440					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CAGTGGACTCCGTCTGCCTCA	0.667000													18	58					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531425	43531425	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43531425C>T	ENST00000220420.5	-	8	1048	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	TGM5_ENST00000349114.4_Silent_p.K265K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	347					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGGGCAGATCCTTCCGGGCCA	0.577000													33	73					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47872703	47872703	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47872703G>A	ENST00000289672.2	-	41	6372	c.6322C>T	c.(6322-6324)Cct>Tct	p.P2108S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2108					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGTGGGGAGGGCAGCAGTGG	0.602000													11	25					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75625839	75625839	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:75625839C>T	ENST00000248600.1	-	9	1231	c.889G>A	c.(889-891)Gag>Aag	p.E297K	STYXL1_ENST00000431581.1_Missense_Mutation_p.E297K|STYXL1_ENST00000359697.3_Missense_Mutation_p.E297K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.E201K	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	297	Tyrosine-protein phosphatase.				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						ATAGTCTTCTCCCATTCCAGC	0.502000													34	116					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944261	81944261	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81944261T>A	ENST00000359376.3	+	18	2084	c.1870T>A	c.(1870-1872)Tgc>Agc	p.C624S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	624	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCACCTGCGCTGCGCCGAGTT	0.632000													150	130					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111803	64111803	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64111803C>T	ENST00000356786.5	+	14	1834	c.1790C>T	c.(1789-1791)tCt>tTt	p.S597F	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	597					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTAGATCCTCTCTCCAGAGC	0.647000													33	68					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954833	12954833	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12954833G>A	ENST00000235347.4	-	3	529	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	150										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGTCTATGAACACCTTCA	0.537000													6	310					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003357	42003357	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:42003357C>T	ENST00000219905.7	+	8	3075	c.2894C>T	c.(2893-2895)cCa>cTa	p.P965L	MGA_ENST00000566586.1_Missense_Mutation_p.P965L|MGA_ENST00000545763.1_Missense_Mutation_p.P965L|MGA_ENST00000389936.4_Missense_Mutation_p.P965L|MGA_ENST00000570161.1_Missense_Mutation_p.P965L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	965						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATATATTTCCAAAGCAGATT	0.448000													46	74					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133769254	133769254	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133769254A>C	ENST00000367895.5	+	5	678	c.214A>C	c.(214-216)Aac>Cac	p.N72H	EYA4_ENST00000355286.6_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.N72H|EYA4_ENST00000431403.2_Missense_Mutation_p.N72H|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.N72H	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	72					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCAGGGGAAAACATGACTGT	0.433000													12	45					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019965	131019965	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131019965T>A	ENST00000421699.2	-	24	2564	c.2552A>T	c.(2551-2553)cAg>cTg	p.Q851L		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	851						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCTCTGGCTCTGGTACAGTGC	0.622000													87	210					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107414138	107414138	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107414138C>T	ENST00000334504.7	-	34	3520	c.3287G>A	c.(3286-3288)gGa>gAa	p.G1096E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1096E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1096E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1097E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1097E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1097	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCATCTCTTCCTTTTGTGCC	0.423000									Alport syndrome with Diffuse Leiomyomatosis				37	22					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677585	107677585	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:107677585C>T	ENST00000525071.1	-	7	1020	c.432G>A	c.(430-432)ggG>ggA	p.G144G	SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Silent_p.G144G|SLC35F2_ENST00000375682.4_Silent_p.G97G|SLC35F2_ENST00000525815.1_Silent_p.G144G			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	144					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACACAGGAATCCCAAAGCAAT	0.403000													27	46					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155851	155851	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155851C>T	ENST00000510175.1	+	0	1286							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGCGGGAAAGCTTTTAAGCAG	0.368000													11	16					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795039	24795039	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24795039C>T	ENST00000310677.4	-	14	1823	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K	ADCY4_ENST00000418030.2_Silent_p.K570K|ADCY4_ENST00000554068.2_Silent_p.K570K|ADCY4_ENST00000396747.3_Silent_p.K263K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	570					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTCCATCTCCTTCTCTCTGA	0.567000													4	10					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151535134	151535134	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151535134C>T	ENST00000368849.3	+	3	271	c.209C>T	c.(208-210)tCc>tTc	p.S70F	TUFT1_ENST00000368848.2_Missense_Mutation_p.S45F|TUFT1_ENST00000538902.1_Missense_Mutation_p.S89F|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000392712.3_Missense_Mutation_p.S45F	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	70					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTGGAGTCCCATGATGGA	0.517000													7	70					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594765	55594765	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55594765G>A	ENST00000378397.1	+	1	71	c.71G>A	c.(70-72)aGa>aAa	p.R24K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTGAGTTGAGAGTCTGCCTC	0.498000										HNSCC(27;0.073)			91	204					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277513	44277513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44277513C>T	ENST00000216177.4	-	8	1256	c.1124G>A	c.(1123-1125)tGg>tAg	p.W375*	PNPLA5_ENST00000593866.1_Nonsense_Mutation_p.W261*|PNPLA5_ENST00000381198.2_Nonsense_Mutation_p.W261*|PNPLA5_ENST00000597664.1_Nonsense_Mutation_p.W375*	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	375					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCCTGCATCCACCACAAGTC	0.657000													11	38					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342254	42342254	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42342254G>A	ENST00000330743.3	-	4	1504	c.293C>T	c.(292-294)cCa>cTa	p.P98L	LYPD4_ENST00000343055.4_Missense_Mutation_p.P63L|LYPD4_ENST00000601246.1_Missense_Mutation_p.P63L	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	98						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CACTCCGGGTGGGGAAACAAG	0.537000													41	76					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112239	55112239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55112239G>A	ENST00000453777.1	+	8	997	c.827G>A	c.(826-828)gGg>gAg	p.G276E	LILRA1_ENST00000251372.3_Missense_Mutation_p.G476E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	476	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGGTCCTCGGGATTCTGCTA	0.567000													22	73					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72132922	72132922	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:72132922C>T	ENST00000268482.3	+	6	1370	c.861C>T	c.(859-861)acC>acT	p.T287T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	287					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGTCCACCCCGCGTCTGT	0.622000													18	15					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190175	49190175	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:49190175G>A	ENST00000406846.2	-	10	1904	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	FSHR_ENST00000304421.4_Silent_p.A569A|FSHR_ENST00000346173.3_Silent_p.A533A|FSHR_ENST00000541117.1_Silent_p.A331A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	595					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CCTTGAGGGAGGCAGAAATGG	0.522000									Gonadal Dysgenesis, 46 XX				19	47					0	0	1	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28094614	28094614	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28094614G>A	ENST00000340487.4	+	3	590	c.441G>A	c.(439-441)ttG>ttA	p.L147L	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	147					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGCCCCCTTGGGAAGGCCAT	0.478000													21	49					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606222	93606222	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:93606222C>T	ENST00000375754.4	+	2	190	c.42C>T	c.(40-42)ccC>ccT	p.P14P	SYK_ENST00000375747.1_Silent_p.P14P|SYK_ENST00000375751.4_Silent_p.P14P|SYK_ENST00000375746.1_Silent_p.P14P|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	14					cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACCACCTGCCCTTCTTTTTCG	0.617000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								8	21					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586869	86586869	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:86586869G>A	ENST00000376263.3	-	11	1104	c.881C>T	c.(880-882)cCc>cTc	p.P294L	HNRNPK_ENST00000376281.4_Missense_Mutation_p.P294L|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P294L|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P294L|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P294L	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	294	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GCCTCGTCCGGGAGGAGGGGG	0.562000													52	82					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563789	142563789	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142563789C>T	ENST00000392957.2	+	9	1964	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	EPHB6_ENST00000411471.2_Missense_Mutation_p.R116W|EPHB6_ENST00000442129.1_Missense_Mutation_p.R393W	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	393	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			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)					GCGCCTGCCTCGGGAGCTGGG	0.647000													10	53					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177088	89177088	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:89177088G>A	ENST00000561129.2	+	1	134	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E2K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TTGGAATATGGAGGCCGCTGC	0.537000													27	13					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707275	109707275	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109707275G>T	ENST00000369939.3	+	3	612	c.429G>T	c.(427-429)ctG>ctT	p.L143L	KIAA1324_ENST00000529753.1_Silent_p.L143L	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	143					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACATGGAGCTGGATGACAGTG	0.622000													26	52					3.6726e-16	3.70437e-16	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150645538	150645538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150645538C>T	ENST00000392968.2	-	9	3518	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	KCNH2_ENST00000262186.5_Missense_Mutation_p.D896N|KCNH2_ENST00000330883.4_Missense_Mutation_p.D556N			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	896					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	tcacccTTGTCCGTGCGCCTG	0.667000													10	66					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38052904	38052904	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38052904C>T	ENST00000463876.1	-	5	1007	c.654G>A	c.(652-654)gaG>gaA	p.E218E	PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Silent_p.E197E	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	197					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCTCCTCGTCCTCCAGGGAGT	0.657000													8	75					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21138260	21138260	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21138260G>A	ENST00000215727.5	+	3	1173	c.889_splice	c.e3-1	p.G297_splice	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Splice_Site_p.G297_splice|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	297					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)	GCCTTTACAGGATCCTGGGTG	0.478000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	336					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156946855	156946855	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156946855G>A	ENST00000257527.4	-	6	670	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P200S|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.P198S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	198					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTGCGAGGTCGCTTCTTG	0.532000													47	124					0	0	1	0	0
ARL5A	26225	broad.mit.edu	37	2	152671700	152671700	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152671700G>A	ENST00000295087.8	-	2	371	c.60C>T	c.(58-60)atC>atT	p.I20I	ARL5A_ENST00000428992.2_5'UTR	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	20					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GCCCAACAATGATAACTTTGT	0.274000													33	62					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756715	183756715	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183756715C>T	ENST00000382489.3	+	8	1317	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	HTR3D_ENST00000428798.2_Silent_p.L389L|HTR3D_ENST00000334128.2_Silent_p.L264L|HTR3D_ENST00000453435.1_Silent_p.L218L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	439						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTACCTGCTCTTCATGGCCT	0.592000													10	278					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003251	166003251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166003251G>A	ENST00000360093.3	-	12	2160	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Q557*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Q557*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	557						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AATCATACCTGATGAGGGGAG	0.383000													52	100					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56432040	56432040	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56432040G>A	ENST00000302969.2	+	1	903	c.879G>A	c.(877-879)cgG>cgA	p.R293R		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACAGTTTGCGGAACAAGGATG	0.403000													16	31					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40849539	40849539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40849539G>A	ENST00000358005.3	-	3	550	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	C15orf57_ENST00000559911.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000558750.1_Nonsense_Mutation_p.Q102*|C15orf57_ENST00000558113.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000558871.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000416810.2_Nonsense_Mutation_p.Q93*|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000560305.1_Nonsense_Mutation_p.Q93*	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	93										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GTCACTTCCTGATTTAAACCT	0.403000													20	54					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25820126	25820126	+	Nonsense_Mutation	SNP	C	C	T	rs149708935		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25820126C>T	ENST00000244527.4	-	4	340	c.225G>A	c.(223-225)tgG>tgA	p.W75*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.W75*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.W75*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.W75*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	75					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATCTGGGCTCCAATTATACA	0.408000													35	95					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5624911	5624911	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5624911G>A	ENST00000380097.3	+	2	695	c.453G>A	c.(451-453)caG>caA	p.Q151Q	TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000278302.5_Silent_p.Q123Q|TRIM6_ENST00000380107.1_Silent_p.Q97Q|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.Q151Q	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCGGTCTCAGGAGCACCGTG	0.547000													33	43					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142499083C>T	ENST00000466254.1	+	0	359																											TCACCCAGATCGTCAGCGCCG	0.597000													53	222					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580724	140580724	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140580724C>T	ENST00000354757.3	+	1	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PCDHB11_ENST00000536699.1_Silent_p.F94F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		459	Cadherin 5.				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)			ACACCCTGTTCGTCCGCGAGA	0.587000													94	203					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687240	68687240	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:68687240G>A	ENST00000361320.4	+	2	1144	c.566G>A	c.(565-567)gGa>gAa	p.G189E	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	189						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGGACCTGGGATATAACCGG	0.473000													45	86					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854610	79854610	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79854610A>C	ENST00000338682.3	-	5	1901	c.1229T>G	c.(1228-1230)tTg>tGg	p.L410W		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	410						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ATTCTCCAACAATTCTTTGGA	0.473000													8	141					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157767729	157767729	+	Splice_Site	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157767729A>G	ENST00000368176.3	-	9	1182	c.1114_splice	c.e9-1	p.V372_splice	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Splice_Site_p.V372_splice	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	372						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACAACATTCACTGCAAGAGA	0.473000													71	55					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123156862	123156862	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:123156862C>T	ENST00000349780.4	-	36	5685	c.5506G>A	c.(5506-5508)Gaa>Aaa	p.E1836K	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E1795K|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E1757K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E1804K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1836	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AACTTCTTTTCTTGTTCAAAC	0.388000													29	76					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6654845	6654845	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6654845C>T	ENST00000299441.3	-	5	2664	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAATTGGCCCGTCTGGCCA	0.547000													5	4					0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173473852	173473852	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:173473852G>A	ENST00000303177.3	+	2	356	c.94G>A	c.(94-96)Gag>Aag	p.E32K	NSG2_ENST00000521585.1_Missense_Mutation_p.E32K	NM_015980.4	NP_057064.1																					CACTCCCTTGGAGGTTAATCA	0.537000													89	179					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948716	38948716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38948716C>T	ENST00000355481.4	+	18	2082	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.R651*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.R651*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	651	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	CTTTGTGGGCCGAGCGGAAGG	0.597000													54	126					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12903771	12903771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:12903771C>T	ENST00000380659.3	+	3	283	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	48					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ACCATGTGATCGTGGACTGCA	0.453000													6	202					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211019170	211019170	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211019170G>A	ENST00000281772.9	-	2	400	c.137C>T	c.(136-138)tCt>tTt	p.S46F	KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S46F|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S46F|KANSL1L_ENST00000452086.1_Missense_Mutation_p.S46F	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	46																	AAGCATCTGAGAAAAGGTGTC	0.393000													17	144					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933305	43933305	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43933305C>T	ENST00000262726.7	-	29	4253	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1182K|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1334	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ACGTCCTTCTCCTTGCATTCT	0.567000													77	164					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70972963	70972963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70972963C>T	ENST00000357250.6	-	19	1537	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	COL9A1_ENST00000370499.4_Missense_Mutation_p.G217E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G217E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	460	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCTTGAGCTCCAACTTCTCC	0.313000													34	12					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776590	150776590	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150776590G>A	ENST00000540185.1	-	2	1004	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.L168F|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.L168F			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	168					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TCCTCACCAAGTAAGACTGCA	0.562000													10	91					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131088631	131088631	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131088631G>A	ENST00000357668.1	-	26	2691	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	ASAP1_ENST00000518721.1_Silent_p.A888A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	888	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGGGCCAAGGGCAGTCTTTG	0.358000													28	52					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409458	30409458	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30409458C>T	ENST00000375994.2	+	3	963	c.690C>T	c.(688-690)ttC>ttT	p.F230F	MYLK2_ENST00000375985.4_Silent_p.F230F			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	230					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGATTGAGTTCCAGGCTGTTC	0.602000													54	172					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880331	26880331	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26880331G>A	ENST00000412114.1	+	0	566					NR_026793.1																						AACACATGCTGAAACATGGAA	0.502000													21	42					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113512	117113512	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117113512G>A	ENST00000310357.3	-	6	2595	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	GPRC6A_ENST00000368549.3_Silent_p.S787S|GPRC6A_ENST00000530250.1_Silent_p.S683S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	858					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCACACTATGGGAAGAATAAC	0.443000													37	107					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95033876	95033876	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95033876G>A	ENST00000375643.3	-	11	1318	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	IARS_ENST00000443024.2_Missense_Mutation_p.P351L|IARS_ENST00000447699.2_Missense_Mutation_p.P241L|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	351					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.P351H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGCATCCACAGGGCAAACAGG	0.448000													58	85					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601955	234601955	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234601955G>A	ENST00000305139.6	+	1	444	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTTGCTGAGCGATCATTCCTA	0.443000													24	60					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120239	31120239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:31120239G>A	ENST00000304166.4	+	5	566	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409363.1_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	93					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGAGACCGAAACCATTGG	0.562000													30	37					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35904666	35904666	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35904666C>T	ENST00000397367.2	-	5	734	c.608G>A	c.(607-609)aGa>aAa	p.R203K	CAPSL_ENST00000397366.1_Missense_Mutation_p.R203K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	203						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCAGGCGGTTCTCATCATGAT	0.488000													32	103					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211999	90211999	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90211999C>T	ENST00000390277.2	+	0	188																											TCCAGCCACCCTGTCTTTGTC	0.498000													21	78					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169908	51169908	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51169908G>A	ENST00000293441.1	-	22	5327	c.5309C>T	c.(5308-5310)cCt>cTt	p.P1770L	SHANK1_ENST00000391813.1_Missense_Mutation_p.P1157L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1778L|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1761L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1770					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTGGGGCCAGGCCGCAGGCC	0.701000													7	9					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517365	140517365	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140517365G>A	ENST00000231134.5	+	1	2566	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATAGGGAAAACTGCTG	0.468000													54	143					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163984643	163984643	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:163984643C>T	ENST00000361752.3	+	6	1377	c.826C>T	c.(826-828)Cct>Tct	p.P276S	QKI_ENST00000392127.2_Missense_Mutation_p.P276S|QKI_ENST00000361195.2_Missense_Mutation_p.P268S|QKI_ENST00000275262.7_Missense_Mutation_p.P276S|QKI_ENST00000424802.3_Missense_Mutation_p.P268S|QKI_ENST00000453779.2_Missense_Mutation_p.P276S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	276					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCAATAGTTCCTCCAGGGCC	0.493000													5	122					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734918	140734918	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140734918G>A	ENST00000571252.1	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGCCAAGGACCTGGGGTT	0.632000													42	132					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340246	62340246	+	Missense_Mutation	SNP	C	C	T	rs6089764		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62340246C>T	ENST00000328969.5	+	2	441	c.314C>T	c.(313-315)cCt>cTt	p.P105L	ZGPAT_ENST00000357119.4_Missense_Mutation_p.P105L|ZGPAT_ENST00000448100.1_Missense_Mutation_p.P105L|ZGPAT_ENST00000355969.6_Missense_Mutation_p.P105L|ZGPAT_ENST00000369967.3_Missense_Mutation_p.P105L|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	105					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GAGACCGTTCCTAAAGCAGAG	0.652000													5	93					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057046	103057046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:103057046C>T	ENST00000375735.2	+	42	6853	c.6709C>T	c.(6709-6711)Cga>Tga	p.R2237*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R2237*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2237					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACTAGGGGTCGATTAGCAAC	0.418000													25	21					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221583	67221583	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67221583G>A	ENST00000314586.6	-	5	825	c.585C>T	c.(583-585)ttC>ttT	p.F195F	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	195	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGTGCCTCGAACAGAAGGT	0.672000													28	22					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595534	39595534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39595534G>A	ENST00000246646.3	-	3	652	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	218	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CTTGGCCAGGGTCGCATCATC	0.632000													40	75					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223464735	223464735	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:223464735G>A	ENST00000281828.6	-	16	1793	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	FARSB_ENST00000536361.1_Silent_p.I411I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	510					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCCCATGAATGATCTCAAACC	0.433000													70	111					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415879	76415879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:76415879G>A	ENST00000357063.3	+	25	5207	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	LMO7_ENST00000465261.2_Missense_Mutation_p.R1031Q|LMO7_ENST00000341547.4_Missense_Mutation_p.R982Q|LMO7_ENST00000526202.1_Missense_Mutation_p.R908Q|LMO7_ENST00000321797.8_Missense_Mutation_p.R1031Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R1316Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	1316						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGGAACCCGAGCAGGAGAA	0.527000													52	69					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773937	229773937	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:229773937C>T	ENST00000258243.2	+	4	3713	c.3577C>T	c.(3577-3579)Ccc>Tcc	p.P1193S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1193						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGAACTGCATCCCAAAAAGGA	0.443000													98	111					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867536	29867536	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:29867536C>G	ENST00000399218.4	-	4	1079	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.A342P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TCACGGACAGCCCGTGAATAC	0.557000													49	69					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167064111	167064111	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167064111G>A	ENST00000361200.2	+	2	191	c.25G>A	c.(25-27)Gag>Aag	p.E9K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E9K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E9K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	9					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGACACAGAGGAGGAGCAGGT	0.557000													9	20					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430025	43430025	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43430025G>A	ENST00000446844.3	-	0	1232				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TAATCTGGGGGATAGAAAGCT	0.473000													111	333					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	242975	242975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:242975G>A	ENST00000337351.4	-	7	850	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	LUC7L_ENST00000293872.8_Missense_Mutation_p.R243C|LUC7L_ENST00000397783.1_Missense_Mutation_p.R243C|LUC7L_ENST00000397780.1_Missense_Mutation_p.R190C	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	243	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCCTCAAGCGATCCTGATTT	0.507000													122	220					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37253052C>T	ENST00000310758.4	-	12	1489	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R281Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R281Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	281					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|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						CCGCTGGGCTCGGATGACATG	0.433000													23	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949567	89949567	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89949567C>T	ENST00000405460.2	+	20	4272	c.4176C>T	c.(4174-4176)tcC>tcT	p.S1392S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1392					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CAAACGAATCCCATGTGACAC	0.393000													13	19					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44310937	44310937	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44310937G>A	ENST00000288390.2	+	1	452	c.105G>A	c.(103-105)agG>agA	p.R35R	SPATS1_ENST00000323108.8_Silent_p.R35R			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	35										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAAAAAAGGGACTCTGGCA	0.567000													22	112					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89734500	89734500	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89734500C>T	ENST00000343435.5	-	4	766	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	77						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATCCAAATTCCCTTGGTGTG	0.488000													35	74					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110146311	110146311	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:110146311C>T	ENST00000230124.3	+	23	2691	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	FIG4_ENST00000441478.2_Missense_Mutation_p.S550L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	856					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCGGCTTTCTCGCAAGATAAC	0.458000													12	142					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324906	152324906	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152324906C>T	ENST00000388718.5	-	3	5428	c.5356G>A	c.(5356-5358)Gga>Aga	p.G1786R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1786							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.512000													8	457					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19590362	19590362	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19590362C>T	ENST00000448695.1	+	1	56	c.56C>T	c.(55-57)tCa>tTa	p.S19L	C16orf62_ENST00000251143.5_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000538853.1_Intron|C16orf62_ENST00000438132.3_Intron|C16orf62_ENST00000543152.1_5'UTR			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GACGTAAATTCATTCTGTTTA	0.498000													15	20					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147830817	147830817	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147830817C>T	ENST00000354217.2	-	7	1258	c.1095G>A	c.(1093-1095)agG>agA	p.R365R	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.R365R			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GATGATGTCCCCTGTGCAGAA	0.478000													8	196					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415911	130415911	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:130415911G>A	ENST00000370904.1	-	14	2137	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	IGSF1_ENST00000370910.1_Silent_p.P409P|IGSF1_ENST00000361420.3_Silent_p.P418P|IGSF1_ENST00000370903.3_Silent_p.P418P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	418					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGGTTTGGGGGGCTTATCTG	0.502000													5	57					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817632	158817632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158817632C>T	ENST00000368141.4	+	6	1363	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	368	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGATAAACTTCGACTCTTCTG	0.433000													71	104					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822373	171822373	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171822373C>T	ENST00000234160.4	+	10	1907	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.F376F	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	364	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CATCCGAGTTCCTCCCGTCAT	0.587000													50	114					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123033100	123033100	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123033100C>T	ENST00000462833.1	-	12	3636	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	ADCY5_ENST00000309879.5_Silent_p.V458V|ADCY5_ENST00000491190.1_Silent_p.V441V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	808					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGAGTAGATCACAGACACAA	0.567000													15	43					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104452	184104452	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184104452C>T	ENST00000204604.1	+	16	2351	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	CHRD_ENST00000450923.1_Missense_Mutation_p.P702L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P662L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	702					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCGAGACCCCAACACATGC	0.706000													14	35					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956681	88956681	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88956681G>A	ENST00000333190.4	+	3	882	c.273G>A	c.(271-273)cgG>cgA	p.R91R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	91						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAGCAACGGGAATTTGCTC	0.333000										HNSCC(36;0.09)			40	137					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915972	25915972	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25915972G>A	ENST00000377850.3	-	9	1579	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	SLC17A2_ENST00000360488.3_Missense_Mutation_p.S352L|SLC17A2_ENST00000265425.3_Missense_Mutation_p.S352L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	352					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ACCAAGAGATGAAAAGAGCTT	0.473000													28	119					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51040272	51040272	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:51040272C>T	ENST00000329492.3	+	2	237	c.120C>T	c.(118-120)atC>atT	p.I40I	MAPK8IP2_ENST00000442429.2_Silent_p.I40I|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Silent_p.I40I	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	40					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCTGAGATCACTGATGACT	0.562000													45	82					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271918	50271918	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50271918G>A	ENST00000284509.6	-	12	1071	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Silent_p.L310L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	310					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCCAAAAGAGGAAAGTTC	0.363000													8	163					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56500854	56500854	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56500854C>T	ENST00000303305.6	+	3	717	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.L100F|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.L81F	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	100					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GGATTATATTCTCAAGGAAGG	0.358000													6	173					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468745	56468745	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56468745G>A	ENST00000312153.1	+	1	882	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TAAGGAATAAGGATGTGAAAG	0.373000													38	112					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203014972	203014972	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203014972C>T	ENST00000367240.2	+	8	1389	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	PPFIA4_ENST00000414050.2_5'UTR|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.L288L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	199					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCCAGGCTCTGGCCCAGAA	0.562000													35	135					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31235607	31235607	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31235607G>A	ENST00000322122.3	+	7	1249	c.965G>A	c.(964-966)gGg>gAg	p.G322E		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	322	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CCGCCGGCCGGGGAGGACCCG	0.701000													11	25					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934572	44934572	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44934572T>A	ENST00000291187.4	-	6	688	c.366A>T	c.(364-366)ggA>ggT	p.G122G	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G128G	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGAAGTCTTTTCCTTGCAGAT	0.473000													10	127					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622601	38622601	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38622601C>T	ENST00000413689.1	-	17	3242	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	SCN5A_ENST00000443581.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1017K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1017K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1017					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)	GGCACCTTCTCCGTCTCTGGG	0.697000													15	34					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966959	39966959	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39966959G>A	ENST00000599117.1	+	31	3551	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	SUPT5H_ENST00000432763.2_Missense_Mutation_p.D1062N|SUPT5H_ENST00000598725.1_Missense_Mutation_p.D1062N|SUPT5H_ENST00000402194.2_Missense_Mutation_p.D1058N|SUPT5H_ENST00000359191.6_Missense_Mutation_p.D1058N			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1062					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)			TGATGGTGAGGATGGCATTGT	0.597000													32	83					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618458	7618458	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7618458C>T	ENST00000256861.6	-	10	2014	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E646K|ITIH5_ENST00000298441.6_Missense_Mutation_p.E432K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E646K|ITIH5_ENST00000446830.2_Missense_Mutation_p.E428K|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	646					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCACCGGTTCGGGTCCCATG	0.682000													21	27					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547453	228547453	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228547453C>T	ENST00000284548.11	+	81	18934	c.18860C>T	c.(18859-18861)cCc>cTc	p.P6287L	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.P3406L			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7111					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGCCAGCCCCGCAGGCCG	0.706000													5	18					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567425	76567425	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76567425G>A	ENST00000389840.5	-	5	892	c.768C>T	c.(766-768)atC>atT	p.I256I	DNAH17_ENST00000585328.1_Silent_p.I256I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTTCTCTAGGATCTCAACAA	0.502000													6	43					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450835	155450835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:155450835C>T	ENST00000461783.3	+	6	1751	c.478C>T	c.(478-480)Cga>Tga	p.R160*	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R160*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R160*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R160*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R160*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	160					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAAGAGCCCCCGAGTGCTCAT	0.582000													22	67					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814390	43814390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43814390C>T	ENST00000382031.1	+	5	1464	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	MAP1A_ENST00000399453.1_Missense_Mutation_p.S240F|MAP1A_ENST00000300231.5_Missense_Mutation_p.S240F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	240	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTGAGATCTCCGTGCCCTAC	0.527000													46	86					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31767441	31767441	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31767441C>T	ENST00000253362.2	+	7	823	c.677C>T	c.(676-678)tCc>tTc	p.S226F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S226F			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	226						extracellular region	lipid binding										TTCATCCACTCCCTGGATGTG	0.532000													7	156					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345601	60345601	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60345601C>T	ENST00000581291.1	-	0	751																				breast(2)|kidney(1)|lung(2)	5						CTGTGAAATCCTGAGAAGCCC	0.587000													201	98					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858011	154858011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:154858011C>T	ENST00000460393.1	+	10	1007	c.887C>T	c.(886-888)cCa>cTa	p.P296L	MME_ENST00000493237.1_Missense_Mutation_p.P296L|MME_ENST00000492661.1_Missense_Mutation_p.P296L|MME_ENST00000360490.2_Missense_Mutation_p.P296L|MME_ENST00000462745.1_Missense_Mutation_p.P296L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	296					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CGAAATGATCCAATGCTTCTG	0.313000													25	54					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1634985	1634985	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1634985G>A	ENST00000356200.3	-	17	2122	c.1888C>T	c.(1888-1890)Cac>Tac	p.H630Y	CDK11A_ENST00000378638.2_Missense_Mutation_p.H630Y|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.H654Y|CDK11A_ENST00000404249.3_Missense_Mutation_p.H664Y|CDK11A_ENST00000378633.1_Missense_Mutation_p.H667Y|CDK11A_ENST00000357760.2_Missense_Mutation_p.H663Y					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTGTAGGGGTGCTCGCTGAAG	0.592000													6	14					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356261	42356261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:42356261G>A	ENST00000554171.1	+	5	2865	c.433G>A	c.(433-435)Gat>Aat	p.D145N	LRFN5_ENST00000298119.4_Missense_Mutation_p.D145N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D145N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	145						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGCGTTTGATGATGTCTTCGC	0.383000										HNSCC(30;0.082)			39	76					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968394	38968394	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38968394C>T	ENST00000302328.3	-	4	715	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E173K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E173K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E173K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	173					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)	ATCAAAGCTTCAAAAATATAA	0.363000													41	87					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106634089	106634089	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:106634089G>A	ENST00000378026.4	-	2	658	c.522C>T	c.(520-522)tcC>tcT	p.S174S	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	174						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTCTCAAGATGGACTCAAAAG	0.458000													12	72					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007835	11007835	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11007835C>T	ENST00000377004.4	-	12	2356	c.2357G>A	c.(2356-2358)gGg>gAg	p.G786E	C1orf127_ENST00000377008.4_Missense_Mutation_p.G619E	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	637										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GAGTGAGGCCCCCCGGCCAGC	0.627000													17	28					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221107	8221107	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:8221107C>T	ENST00000539824.1	+	9	1108	c.734C>T	c.(733-735)cCc>cTc	p.P245L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P321L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	321							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCTCGGGGCCCGAAGAGATG	0.682000													42	143					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011667	68011667	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:68011667C>T	ENST00000268793.4	-	6	1270	c.897G>A	c.(895-897)ttG>ttA	p.L299L		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	274					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCCTTCTTATCAAGGTGTCCG	0.478000													15	19					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36143317	36143317	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36143317G>A	ENST00000296603.4	-	2	597	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	45						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATAAGAAAGCAGAGATACC	0.343000													17	69					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20949957	20949957	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:20949957C>T	ENST00000298925.5	+	10	1166	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	NELL1_ENST00000532434.1_Missense_Mutation_p.P310L|NELL1_ENST00000325319.5_Missense_Mutation_p.P253L|NELL1_ENST00000357134.5_Missense_Mutation_p.P310L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	310	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATGTCCTGTCCCCCTCTCAAT	0.537000													31	33					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744409	76744409	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:76744409C>T	ENST00000369963.3	-	2	352	c.163G>A	c.(163-165)Gag>Aag	p.E55K	IMPG1_ENST00000369950.3_Missense_Mutation_p.E133K			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	133					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAAGGTCTCCTGCTGGCAG	0.498000													53	75					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65074542	65074542	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65074542C>T	ENST00000358691.5	-	33	5821	c.5655G>A	c.(5653-5655)caG>caA	p.Q1885Q	HELZ_ENST00000580168.1_Silent_p.Q1886Q	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCGCAGAGCTCTGGGGGCTAC	0.622000													83	239					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166605356	166605356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166605356G>A	ENST00000392701.3	-	11	2612	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S	GALNT3_ENST00000409882.1_Missense_Mutation_p.P351S	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	613	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ACTAAACTTGGATGCTCTCCA	0.328000													25	38					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765201	141765201	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141765201C>T	ENST00000475668.2	+	38	4605	c.4551C>T	c.(4549-4551)ggC>ggT	p.G1517G	MGAM_ENST00000549489.2_Silent_p.G1517G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1517	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTGGCCGCTGGGCAG	0.612000													7	28					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012753	30012753	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30012753C>T	ENST00000563197.1	+	6	1432	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	INO80E_ENST00000567705.1_Intron|INO80E_ENST00000304516.7_Intron|INO80E_ENST00000567254.1_Missense_Mutation_p.P139S	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	139	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ctcccgctacccccCATTCCC	0.672000													17	27					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246850	57246850	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:57246850G>A	ENST00000607273.1	+	7	664	c.577G>A	c.(577-579)Gat>Aat	p.D193N	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	193					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)		TGATGCTCTGGATTTGTTTCG	0.368000													9	67					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682830	218682830	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:218682830C>T	ENST00000171887.4	-	24	4365	c.3913G>A	c.(3913-3915)Gga>Aga	p.G1305R	TNS1_ENST00000419504.1_Missense_Mutation_p.G1292R|TNS1_ENST00000430930.1_Missense_Mutation_p.G1284R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1305						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)		CCAGACCCTCCGAGGTGACGG	0.657000													10	28					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30679745	30679745	+	Silent	SNP	G	G	A	rs138559048		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30679745G>A	ENST00000376406.3	-	5	2621	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	MDC1_ENST00000376405.2_Silent_p.S658S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	658				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGCTGGGTGGATTCCCCTA	0.572000								Other conserved DNA damage response genes					62	123					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29696140	29696140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29696140C>T	ENST00000397938.2	+	17	2279	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	EWSR1_ENST00000332050.6_Missense_Mutation_p.R581W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R616W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R653W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R659W|EWSR1_ENST00000332035.6_Missense_Mutation_p.R598W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCGCAGAGATCGGCCCTACTA	0.483000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								6	179					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258743	51258743	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:51258743C>T	ENST00000395542.2	-	4	673	c.489G>A	c.(487-489)cgG>cgA	p.R163R	COBL_ENST00000441453.1_Silent_p.R163R|COBL_ENST00000395540.2_Silent_p.R163R|COBL_ENST00000265136.7_Silent_p.R163R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	163										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTTTTGTGTCCGCAGGTAAT	0.478000													23	22					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38944555	38944555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38944555G>A	ENST00000357387.3	-	36	4936	c.4906C>T	c.(4906-4908)Ctt>Ttt	p.L1636F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L1660F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1636					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CACGTTAAAAGCCCAGTCTCA	0.323000													46	313					0	0	1	0	0
MPV17L	255027	broad.mit.edu	37	16	15494687	15494687	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:15494687G>A	ENST00000396385.3	+	2	473	c.354G>A	c.(352-354)ctG>ctA	p.L118L	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.6_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	118						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						TTTTGGACCTGAAACAGAAAT	0.289000													17	28					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151093095	151093095	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151093095G>A	ENST00000334493.6	-	3	923	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	WDR86_ENST00000477459.1_Missense_Mutation_p.L37F|WDR86_ENST00000469830.2_Missense_Mutation_p.L165F	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	165										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACCAGAAGCCCCCCGGCC	0.716000													14	18					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47306505	47306505	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47306505C>T	ENST00000342922.4	+	13	2528	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	MADD_ENST00000407859.3_Missense_Mutation_p.S724F|MADD_ENST00000406482.1_Missense_Mutation_p.S724F|MADD_ENST00000349238.3_Missense_Mutation_p.S724F|MADD_ENST00000311027.5_Missense_Mutation_p.S724F|MADD_ENST00000402192.2_Missense_Mutation_p.S724F|MADD_ENST00000402799.1_Missense_Mutation_p.S724F|MADD_ENST00000395336.3_Missense_Mutation_p.S724F|MADD_ENST00000395344.3_Missense_Mutation_p.S724F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	724					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGCTGACTCTACGGAGATG	0.547000													6	128					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392716	124392716	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124392716C>T	ENST00000338354.3	+	49	6126	c.6020C>T	c.(6019-6021)tCc>tTc	p.S2007F	DMBT1_ENST00000368955.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S727F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2007F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1379F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1379F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2007					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGATTATTCCTGCGGAGGC	0.473000													42	80					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21250925	21250925	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21250925T>C	ENST00000233242.1	-	14	1969	c.1842A>G	c.(1840-1842)ttA>ttG	p.L614L	APOB_ENST00000399256.4_Silent_p.L614L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	614	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCTTTCACTAACTTTTTCA	0.363000													19	226					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40717184	40717184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:40717184C>T	ENST00000454349.2	+	22	5276	c.5065C>T	c.(5065-5067)Cga>Tga	p.R1689*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R885*|TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.R1579*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R885*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1689	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGCCCTGATCCGATACAGCAC	0.522000													19	44					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173337568	173337568	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:173337568C>T	ENST00000375221.2	+	6	1045	c.842C>T	c.(841-843)cCc>cTc	p.P281L	ITGA6_ENST00000409532.1_Missense_Mutation_p.P123L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P237L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P281L|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	281					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACACGGCCTCCCCGGGAGCAG	0.463000													51	111					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547434	228547434	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228547434C>T	ENST00000284548.11	+	81	18915	c.18841C>T	c.(18841-18843)Ctg>Ttg	p.L6281L	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.L3400L			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7105					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGCTGTACCTGCCAGGTGC	0.706000													5	19					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239777	142239777	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142239777C>T	ENST00000390363.2	-	0	149																											ACTCGCTGTCCAGTTGCTGTG	0.527000													34	54					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86028319	86028319	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:86028319C>T	ENST00000407528.2	+	8	1011	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Missense_Mutation_p.P319S	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	317					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.P319S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCAGATGTTCCCAACACTTT	0.373000													77	213					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018499	211018499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211018499G>A	ENST00000281772.9	-	2	1071	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	KANSL1L_ENST00000418791.1_Missense_Mutation_p.P270S|KANSL1L_ENST00000457374.1_Missense_Mutation_p.P270S|KANSL1L_ENST00000452086.1_Missense_Mutation_p.P270S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	270																	TTCATTTTGGGGAGTTGATGT	0.388000													61	116					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647961	121647961	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121647961C>T	ENST00000489711.1	+	16	1862	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.R461C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	492					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTGTCATTCGTGAAGATGG	0.398000													108	218					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180047255C>T	ENST00000261937.6	-	17	2538	c.2460G>A	c.(2458-2460)ggG>ggA	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652000													45	142					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41546183	41546183	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:41546183C>T	ENST00000263253.7	+	14	4017	c.2798C>T	c.(2797-2799)cCt>cTt	p.P933L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	933					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGCTGCTTCCTCCGCAGCCT	0.512000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	23					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927041	31927041	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31927041C>T	ENST00000300870.10	+	4	1680	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	491					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TGGAGAGAAGCCTTATAAATG	0.338000													28	71					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091796	9091796	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9091796G>A	ENST00000397910.4	-	1	222	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7					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						GACCCAGGAAGGCCTGAGGGT	0.552000													10	46					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664796	136664796	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:136664796C>T	ENST00000469404.1	+	2	497	c.406C>T	c.(406-408)Cca>Tca	p.P136S	NCK1_ENST00000288986.2_Missense_Mutation_p.P200S|NCK1_ENST00000481752.1_Missense_Mutation_p.P200S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	200	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCTCTTTACCCATTCAGCTC	0.418000													6	182					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946060	138946060	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138946060C>T	ENST00000288561.8	+	6	968	c.719C>T	c.(718-720)tCt>tTt	p.S240F	UBN2_ENST00000473989.2_Missense_Mutation_p.S323F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	323										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GATTCTCTTTCTCTAGCTGCC	0.383000													29	77					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37164380	37164380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:37164380G>A	ENST00000274258.7	-	37	7810	c.4223C>T	c.(4222-4224)cCt>cTt	p.P1408L	C5orf42_ENST00000508244.1_Missense_Mutation_p.P2528L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2528L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2528										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATACCAAAAGGAACGTCGAA	0.323000													19	116					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283793	101283793	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:101283793C>T	ENST00000309922.6	+	2	322	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		AGAGTACACCCCCTTCTGAAG	0.368000													33	148					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58448959	58448959	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:58448959G>A	ENST00000357552.3	-	35	3732	c.3507C>T	c.(3505-3507)ttC>ttT	p.F1169F	SYCP2_ENST00000371001.2_Silent_p.F1169F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338000													35	59					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069332	6069332	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:6069332C>T	ENST00000381095.3	-	2	803	c.176G>A	c.(175-177)aGa>aAa	p.R59K	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R59K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R59K|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R59K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R59K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	59					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TAACGGTGTTCTTAGGCCCCG	0.527000													102	22					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089620	10089620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10089620C>T	ENST00000287647.3	+	16	1391	c.1298C>T	c.(1297-1299)tCa>tTa	p.S433L	FANCD2_ENST00000383807.1_Missense_Mutation_p.S433L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S433L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S433L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	433					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S433L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATATGTGTTCATCCATTCTG	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				40	209					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253629	65253629	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65253629G>A	ENST00000389722.3	-	15	3107	c.3054C>T	c.(3052-3054)tcC>tcT	p.S1018S	SPTB_ENST00000556626.1_Silent_p.S1018S|SPTB_ENST00000389720.3_Silent_p.S1018S|SPTB_ENST00000389721.5_Silent_p.S1018S|SPTB_ENST00000542895.1_Silent_p.S1018S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1018					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGCTGCTGGGACTCACGCT	0.622000													4	152					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55100930	55100930	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55100930C>T	ENST00000371328.3	+	2	643	c.320C>T	c.(319-321)cCc>cTc	p.P107L	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		AATGCTTCCCCCAACAAAGAC	0.453000													56	97					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140737153	140737153	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140737153G>A	ENST00000571252.1	+	1	2386	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAACTCAGGATTTACTTGA	0.438000													21	57					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204986	10204986	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10204986C>G	ENST00000418404.3	-	39	5865	c.5702G>C	c.(5701-5703)cGg>cCg	p.R1901P	MYH13_ENST00000252172.4_Missense_Mutation_p.R1901P|MYH13_ENST00000570743.1_Missense_Mutation_p.R1901P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1901					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1901L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGACTCTCCGGCATCTGGA	0.627000													35	95					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988466	36988466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:36988466C>T	ENST00000518149.1	-	2	702	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G63S|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G33S|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G33S			P43699	NKX21_HUMAN	NK2 homeobox 1	33					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCCCCGAGGCCGCCGCCCTCC	0.657000			A		NSCLC								9	26					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519694	137519694	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:137519694G>A	ENST00000367739.4	-	7	1065	c.944C>T	c.(943-945)tCc>tTc	p.S315F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S287F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	315					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTTTCTAAGGAAAATGGCTG	0.423000													27	52					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36948603	36948603	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:36948603C>T	ENST00000262865.4	+	7	784	c.695C>T	c.(694-696)tCt>tTt	p.S232F	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	232					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAAATAGATTCTGTGGCTGGA	0.498000													5	93					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141191	167141191	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167141191C>T	ENST00000303354.6	-	12	2089	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.E582E|SCN9A_ENST00000409435.1_Silent_p.E582E|SCN9A_ENST00000375387.4_Silent_p.E583E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	582						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E582D(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCTTCTGCTCTCATTGTCTC	0.512000													11	114					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435924	50435924	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50435924C>T	ENST00000423777.2	+	3	801	c.424C>T	c.(424-426)Ccc>Tcc	p.P142S	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P142S	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	142	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCTCCCTCCCCCTGTCCCT	0.652000													5	4					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13370322	13370322	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13370322G>A	ENST00000254508.5	-	31	4317	c.4235C>T	c.(4234-4236)tCt>tTt	p.S1412F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GACATCTCCAGAGTTGTCGTG	0.542000													31	83					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32363831	32363831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32363831C>T	ENST00000454136.3	-	5	1067	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	BTNL2_ENST00000374993.1_Missense_Mutation_p.D355N|BTNL2_ENST00000414363.1_Missense_Mutation_p.D145N|BTNL2_ENST00000540315.1_Missense_Mutation_p.D145N|BTNL2_ENST00000374995.3_Missense_Mutation_p.D261N|BTNL2_ENST00000544175.1_Missense_Mutation_p.D78N|BTNL2_ENST00000429232.2_Missense_Mutation_p.D262N			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	355	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ACCTTCAGATCCAAACTGGCC	0.453000													39	84					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889207	38889207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38889207G>A	ENST00000302328.3	-	26	4552	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q1414*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Q1452*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1452					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)	ATGTGCTCCTGATTTTCCAAG	0.507000													13	40					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56128953	56128953	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:56128953C>T	ENST00000373965.2	-	5	795	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	PCDH15_ENST00000395446.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R112Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R112Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R134Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R134Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R139Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R134Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	134	Cadherin 1.		R -> G (in DFNB23).		equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R134Q(2)|p.R139Q(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACCACTATTCGCACTTCATG	0.438000										HNSCC(58;0.16)			21	51					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763877	14763877	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:14763877A>T	ENST00000358984.4	+	7	1193	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.K338I	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	338										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACACCTAGGAAAATTTTGAGG	0.418000													8	23					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131296136	131296136	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131296136G>A	ENST00000309971.4	+	11	1658	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	GLE1_ENST00000372770.4_Missense_Mutation_p.D518N|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.D264N	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	518					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAGAGTGGGGGACCTCATTCT	0.507000													69	123					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287701	79287701	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79287701G>A	ENST00000332900.1	-	3	689	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	47						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CTGCAGCAGGGTGGGGGGCCG	0.592000													56	163					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4077643	4077643	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:4077643C>A	ENST00000274673.3	-	2	409	c.6G>T	c.(4-6)ggG>ggT	p.G2G	FAM217A_ENST00000380188.2_Intron	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	2																	CATTTCTTCTCCCCATTTTGT	0.448000													28	199					3.03874e-20	3.06976e-20	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461816	11461816	+	Splice_Site	SNP	C	C	T	rs141041844		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11461816C>T	ENST00000279575.1	-	3	134	c.100_splice	c.e3-1	p.G34_splice	PRB4_ENST00000535904.1_Splice_Site_p.G34_splice|PRB4_ENST00000445719.2_Splice_Site_p.G34_splice	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	34				LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.527000										HNSCC(22;0.051)			22	386					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	C	T	rs149687703		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83932427C>T	ENST00000345382.2	-	4	1661	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E519K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	526					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATGGCATTTCGTTTGAAATG	0.488000													44	96					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937299	67937299	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:67937299G>A	ENST00000252336.6	+	5	675	c.303G>A	c.(301-303)tcG>tcA	p.S101S	STARD8_ENST00000374599.3_Silent_p.S181S|STARD8_ENST00000374597.3_Silent_p.S101S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	101					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCCCAGCTCGAGTGACCGGC	0.642000													21	16					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	25704442	25704442	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:25704442G>A	ENST00000331351.5	+	1	1096	c.704G>A	c.(703-705)aGg>aAg	p.R235K		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	235	Substrate binding (By similarity).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTCTTCGACAGGAACTACGAA	0.677000													12	26					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884169	38884169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38884169G>A	ENST00000274276.3	+	5	1061	c.659G>A	c.(658-660)gGa>gAa	p.G220E	OSMR_ENST00000502536.1_Missense_Mutation_p.G220E	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	220					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAAGTCAAGGAAATGTCAGT	0.388000													101	529					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828668	61828668	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61828668C>T	ENST00000280772.1	-	37	12162	c.11971G>A	c.(11971-11973)Gaa>Aaa	p.E3991K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3991					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						TTACATACTTCCTTGAGCTGA	0.463000													7	188					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94089013	94089013	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94089013G>A	ENST00000553484.1	+	31	5654	c.5500G>A	c.(5500-5502)Gaa>Aaa	p.E1834K	UNC79_ENST00000393151.2_Missense_Mutation_p.E1812K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1812K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1635K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1812						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCTGATACAGAACAGAATCC	0.483000													23	59					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577512	16577512	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16577512G>A	ENST00000375592.3	-	10	2023	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	603										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCCCTGGGCGAGGGATGGGC	0.602000													46	85					0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42034102	42034102	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42034102C>T	ENST00000372977.3	+	6	560	c.542C>T	c.(541-543)tCc>tTc	p.S181F	TAF8_ENST00000372982.4_Missense_Mutation_p.S181F|TAF8_ENST00000456846.2_Missense_Mutation_p.S181F|TAF8_ENST00000494547.1_Missense_Mutation_p.S181F|TAF8_ENST00000465926.1_Missense_Mutation_p.S118F	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	181					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			AAGGCTGCATCCCAGAGGCGC	0.552000													36	58					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563485	22563485	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:22563485G>A	ENST00000419308.2	-	2	579	c.377C>T	c.(376-378)cCc>cTc	p.P126L	FOXA2_ENST00000319993.4_Missense_Mutation_p.P132L|FOXA2_ENST00000377115.4_Missense_Mutation_p.P126L	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	126					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTTGGCGTAGGGGGCCAGGCC	0.746000													21	46					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6649747	6649747	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6649747G>A	ENST00000436152.2	-	11	1232	c.673C>T	c.(673-675)Cct>Tct	p.P225S	IFFO1_ENST00000356896.4_Missense_Mutation_p.P532S|IFFO1_ENST00000465801.1_Missense_Mutation_p.P224S|IFFO1_ENST00000396840.2_Missense_Mutation_p.P528S|IFFO1_ENST00000336604.4_Missense_Mutation_p.P531S			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	528						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTGAAAGCAGGAGACTTTCTA	0.597000													18	50					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643492	15643492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:15643492G>A	ENST00000579428.1	+	9	820	c.576G>A	c.(574-576)tgG>tgA	p.W192*	AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000437605.2_Intron|ZNF286A_ENST00000413242.2_Intron			Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	0	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GATATTCCTGGGACATGTGCC	0.498000													54	101					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12838884	12838884	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:12838884C>T	ENST00000380668.5	+	6	954	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	PRPS2_ENST00000398491.2_Missense_Mutation_p.P279S	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	276					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAACACAATTCCGCAAGAGGA	0.438000													4	124					0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45404286	45404286	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45404286G>A	ENST00000592434.1	+	8	861	c.766_splice	c.e8-1	p.L256_splice	TOMM40_ENST00000252487.5_Splice_Site_p.L256_splice|TOMM40_ENST00000405636.2_Splice_Site_p.L256_splice|TOMM40_ENST00000426677.2_Splice_Site_p.L256_splice			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	256					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CTCTGACAGTGAACAACTGGT	0.602000													9	101					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398456	47398456	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47398456G>A	ENST00000310638.4	-	11	1372	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	CYP4A11_ENST00000371904.4_Silent_p.F448F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.F447F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	447					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGAAGGGCAGGAAAGCGTGGC	0.522000													147	358					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619031	1619031	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1619031G>A	ENST00000412090.1	-	1	493	c.450C>T	c.(448-450)ccC>ccT	p.P150P	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	150	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		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)		GGCAGCACACGGGGACACAGC	0.607000													7	207					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125654	34125654	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34125654C>T	ENST00000297161.2	+	14	2069	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	BMPER_ENST00000426693.1_Silent_p.S565S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	565	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCTCAAATCCTGGGAGTTTC	0.502000													31	60					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573786	48573786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:48573786C>T	ENST00000340553.3	+	3	694	c.433C>T	c.(433-435)Cat>Tat	p.H145Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	145					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GATTCTGGACCATTTTCCATA	0.393000													93	161					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31791344	31791344	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31791344C>T	ENST00000446923.2	+	4	731	c.340C>T	c.(340-342)Cta>Tta	p.L114L	ZEB1_ENST00000320985.10_Silent_p.L130L|ZEB1_ENST00000560721.2_Silent_p.L110L|ZEB1_ENST00000361642.5_Silent_p.L131L|ZEB1_ENST00000542815.3_Silent_p.L63L|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	130					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAGAGTTTCTACAACAACA	0.403000													21	70					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114515721	114515721	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:114515721C>T	ENST00000282369.3	-	1	135	c.14G>A	c.(13-15)gGg>gAg	p.G5E	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G5E|TRIM36_ENST00000379617.2_Missense_Mutation_p.G5E	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	5						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACTCATCTCCCCAGACTCCGA	0.522000													46	97					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162730459	162730459	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:162730459C>T	ENST00000446997.1	+	8	985	c.892C>T	c.(892-894)Cca>Tca	p.P298S	SLC4A10_ENST00000421911.1_Missense_Mutation_p.P298S|SLC4A10_ENST00000535165.1_Missense_Mutation_p.P298S|SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	298					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCATACTAGTCCATGTGGGAT	0.522000													11	18					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41051181	41051181	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41051181C>T	ENST00000399564.4	-	13	1692	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGTTAGTTTTCACTGGTTTCT	0.438000													8	36					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576850	33576850	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:33576850G>A	ENST00000504830.1	-	19	3616	c.3281C>T	c.(3280-3282)tCc>tTc	p.S1094F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1009F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1094	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAAGGATTGGGAAGTGAGGAT	0.512000										HNSCC(64;0.19)			41	68					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36109261	36109261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:36109261G>A	ENST00000303965.4	-	27	4700	c.4211C>T	c.(4210-4212)tCa>tTa	p.S1404L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1404	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCAGCTAATGAACTCCACCG	0.413000													56	132					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809771	5809771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5809771C>T	ENST00000317078.1	-	1	275	c.276G>A	c.(274-276)aaG>aaA	p.K92K	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K92K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATCAATCTCCTTGAGATTAA	0.498000													59	48					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144101650	144101650	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:144101650G>A	ENST00000467773.1	-	2	208	c.210_splice	c.e2+1	p.S70_splice	NOBOX_ENST00000483238.1_Splice_Site_p.S70_splice	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	70					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ccCCCGTACTGATTTGAGGGT	0.557000													15	47					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58107222	58107222	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:58107222C>T	ENST00000357272.4	+	20	3283	c.3118C>T	c.(3118-3120)Ccc>Tcc	p.P1040S	FLNB_ENST00000358537.3_Missense_Mutation_p.P1040S|FLNB_ENST00000429972.2_Missense_Mutation_p.P1040S|FLNB_ENST00000419752.2_Missense_Mutation_p.P871S|FLNB_ENST00000348383.5_Missense_Mutation_p.P1040S|FLNB_ENST00000493452.1_Missense_Mutation_p.P871S|FLNB_ENST00000490882.1_Missense_Mutation_p.P1040S|FLNB_ENST00000295956.4_Missense_Mutation_p.P1040S			O75369	FLNB_HUMAN	filamin B, beta	1040					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCACCAGATCCCAGCAAGGT	0.562000													62	122					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	34003505	34003505	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:34003505G>A	ENST00000244137.6	-	2	228	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PEPD_ENST00000436370.3_Silent_p.F65F|PEPD_ENST00000397032.4_Silent_p.F65F	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	65					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TCACCTGGCGGAAGAGGACCC	0.672000													4	86					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063639	6063639	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:6063639G>A	ENST00000379959.3	-	4	558	c.385C>T	c.(385-387)Cca>Tca	p.P129S	IL2RA_ENST00000256876.6_Missense_Mutation_p.P129S|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	129	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCCCATGGTGGAGGTTCCCTG	0.527000													25	56					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191922832	191922832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:191922832C>T	ENST00000392320.2	-	13	1432	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	STAT4_ENST00000358470.4_Missense_Mutation_p.R373Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	373					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TACAAATCTTCGGTTGCTGGA	0.368000													30	56					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489466	20489466	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20489466C>T	ENST00000555186.1	+	0	454					NR_038836.1																						AACTTCATTCCTAAAGTCTGG	0.428000													12	114					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152626355	152626355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:152626355G>T	ENST00000263985.6	-	7	984	c.944C>A	c.(943-945)tCa>tAa	p.S315*	PET112_ENST00000512306.1_Nonsense_Mutation_p.S315*|PET112_ENST00000515812.1_Nonsense_Mutation_p.S274*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	315						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGATGAAATGAGCGTGTTTC	0.478000													25	75					2.24059e-21	2.26463e-21	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55653307	55653307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55653307G>A	ENST00000449290.2	+	2	495	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	135						intracellular	zinc ion binding										GGCTGCTGAGGAACGCCGGGT	0.478000													36	68					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26919636G>A	ENST00000321765.5	-	3	958	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	209					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483000													36	102					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44467253	44467253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44467253G>A	ENST00000355451.6	-	3	838	c.559C>T	c.(559-561)Cga>Tga	p.R187*	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	187	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TAGTTCTCTCGGACAGCACCA	0.517000													45	73					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170051229	170051229	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:170051229G>A	ENST00000284637.9	-	6	1488	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	383						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)		ACATCTGATGGGAAAGTAAAC	0.458000													15	38					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36979590	36979590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36979590C>T	ENST00000274963.8	+	4	658	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	163	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GTTCCATTCTCAGTTCTTCCT	0.617000													31	81					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923290	89923290	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89923290C>T	ENST00000405460.2	+	7	1031	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	312					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ACTGGGAATTCCACAGCACAT	0.383000													46	65					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96429169	96429169	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:96429169G>A	ENST00000228740.2	-	1	270	c.129C>T	c.(127-129)gtC>gtT	p.V43V	LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Intron	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	43					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CCTGAGACTGGACCGTGAGAG	0.687000													9	19					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39742679	39742679	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:39742679C>T	ENST00000361337.2	+	15	1772	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	508					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTGCTCACTTCGTGTGGAGCA	0.488000			T	NUP98	AML*								48	95					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919959	51919959	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51919959C>T	ENST00000353836.5	-	3	888	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G165S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G223S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G165S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G165S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G223S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G175S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G223S|CTD-2616J11.2_ENST00000532688.1_RNA	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	223	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCGCTCACACCCTTTCTGGAG	0.632000													9	47					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875185	18875185	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:18875185C>T	ENST00000406451.3	+	20	2703	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	HDAC9_ENST00000401921.1_Silent_p.F810F|HDAC9_ENST00000432645.2_Silent_p.F851F|HDAC9_ENST00000441542.2_Silent_p.F854F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	851	Histone deacetylase.				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	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|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)	GGAACTTTTTCCCTGGCAGTG	0.443000													39	57					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604135	138604135	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138604135G>A	ENST00000440172.1	-	2	285	c.237C>T	c.(235-237)ctC>ctT	p.L79L	KIAA1549_ENST00000422774.1_Silent_p.L79L|KIAA1549_ENST00000242365.4_Silent_p.L29L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	79						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTTCAGCACGAGCTCCATGG	0.527000			O	BRAF	pilocytic astrocytoma								29	119					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221181	118221181	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:118221181C>T	ENST00000402510.2	-	11	4011	c.4012G>A	c.(4012-4014)Gat>Aat	p.D1338N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1338										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTAGACCTATCTGAGGCTTGG	0.473000													18	227					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078696	21078696	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21078696C>T	ENST00000261383.3	-	24	3425	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M1142I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1142	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTCTCTGCCATCCGTGGCT	0.468000													36	78					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90435351	90435351	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:90435351G>A	ENST00000394375.3	+	9	968	c.855G>A	c.(853-855)ttG>ttA	p.L285L	LIPF_ENST00000238983.4_Silent_p.L275L|LIPF_ENST00000355843.2_Silent_p.L242L|LIPF_ENST00000496797.1_3'UTR	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	275					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AGAGTCGCTTGGATGTGTATC	0.333000													31	42					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236590728	236590728	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:236590728G>A	ENST00000359362.5	+	4	381	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	EDARADD_ENST00000334232.4_Missense_Mutation_p.R66Q	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	66					cell differentiation|signal transduction	cytoplasm		p.R66Q(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCCCACGAAATTCAGAT	0.289000													7	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485543	179485543	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179485543C>T	ENST00000589042.1	-	247	46018	c.45794G>A	c.(45793-45795)aGa>aAa	p.R15265K	TTN_ENST00000359218.5_Missense_Mutation_p.R6325K|TTN_ENST00000591111.1_Missense_Mutation_p.R13624K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12697K|TTN_ENST00000460472.2_Missense_Mutation_p.R6200K|TTN_ENST00000342175.6_Missense_Mutation_p.R6392K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13624	Fibronectin type-III 11.						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)			ATCTCTAATTCTGAGGGTGTA	0.363000													99	160					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72538357	72538357	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:72538357G>A	ENST00000299290.1	-	6	852	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	TBATA_ENST00000456372.2_Missense_Mutation_p.R155W|TBATA_ENST00000545575.1_Missense_Mutation_p.R144W	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.R155R(1)									AAGGCCACCCGGGAAGCTAGC	0.587000													78	191					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172017826	172017826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:172017826C>T	ENST00000358155.4	+	10	1447	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	DNM3_ENST00000367731.1_Missense_Mutation_p.S424F|DNM3_ENST00000355305.5_Missense_Mutation_p.S424F|DNM3_ENST00000367733.2_Missense_Mutation_p.S424F|DNM3_ENST00000520906.1_Missense_Mutation_p.S424F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	424					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						AAAGGGCCTTCCTTGAAGAGT	0.398000													36	86					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374437	163374437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163374437G>A	ENST00000332142.5	-	4	794	c.695C>T	c.(694-696)tCc>tTc	p.S232F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S232F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	232					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGAGGTCCGGATATATTCAC	0.483000													52	89					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700556	136700556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:136700556C>T	ENST00000445907.2	+	3	1472	c.944C>T	c.(943-945)tCc>tTc	p.S315F	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S315F|CHRM2_ENST00000453373.1_Missense_Mutation_p.S315F|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S315F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S315F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S315F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	315					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGGGCCATTCCAAAGATGAG	0.468000													37	141					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323203	61323203	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61323203G>A	ENST00000283752.5	-	8	1004	c.861C>T	c.(859-861)ttC>ttT	p.F287F	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.F235F	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	287					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						CTTCCACTTTGAACCGAGGTA	0.463000													32	86					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228602	47228602	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47228602A>C	ENST00000391910.3	-	11	1930	c.1480T>G	c.(1480-1482)Ttc>Gtc	p.F494V	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.F487V|STRN4_ENST00000539396.1_Missense_Mutation_p.F368V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	487						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGAGCCCGGAAAGCATGTATA	0.607000													11	342					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103131239G>A	ENST00000424685.2	-	59	9640	c.9481C>T	c.(9481-9483)Cct>Tct	p.P3161S	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P3161S|RELN_ENST00000428762.1_Missense_Mutation_p.P3161S			P78509	RELN_HUMAN	reelin	3161					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448000													43	96					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408283	110408283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110408283G>A	ENST00000378402.5	+	11	943	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	280	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CCTTCACAAGGAAGCATTCGA	0.383000										HNSCC(38;0.096)			6	13					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456752	7456752	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:7456752G>A	ENST00000486284.1	+	5	1350	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	GRM7_ENST00000389336.4_Missense_Mutation_p.R359K|GRM7_ENST00000402647.2_Missense_Mutation_p.R359K|GRM7_ENST00000403881.1_Missense_Mutation_p.R359K|GRM7_ENST00000357716.4_Missense_Mutation_p.R359K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	359					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAAAACAACAGAAGAAATGTA	0.428000													11	43					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122622393	122622393	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:122622393C>T	ENST00000263461.6	+	5	919	c.673C>T	c.(673-675)Cta>Tta	p.L225L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	225						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAGAAAGCTCTAAATAAAGT	0.398000													55	123					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730992	96730992	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:96730992G>A	ENST00000216629.6	+	3	1579	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	325					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAAGGTCTGGGAACTTTATAA	0.443000													118	221					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189614	38189614	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38189614C>T	ENST00000355202.4	-	5	2013	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G472E	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGGTTTCTCTCCTGTATGAAT	0.378000													37	101					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814203	43814203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43814203C>T	ENST00000382031.1	+	5	1277	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R178C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R178C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	178	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).			EKKDKE -> KKKRNS (in Ref. 5; CAA87104).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R178C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTCTATATCGTGTGGTCAG	0.562000													37	73					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006243	94006243	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:94006243C>T	ENST00000282020.4	+	3	600	c.342C>T	c.(340-342)atC>atT	p.I114I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	114					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCATGCATATCCCCCACCTCT	0.562000													30	82					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142388297	142388297	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142388297C>T	ENST00000337777.3	+	3	349	c.136C>T	c.(136-138)Cct>Tct	p.P46S	PLS1_ENST00000497002.1_Missense_Mutation_p.P46S|PLS1_ENST00000457734.2_Missense_Mutation_p.P46S	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	46	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGCAAGCCTTCCTCTGCCTGG	0.373000													61	120					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82095920	82095920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:82095920C>T	ENST00000372204.3	-	8	690	c.526G>A	c.(526-528)Gat>Aat	p.D176N	DYDC1_ENST00000372202.1_Missense_Mutation_p.D176N	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	176										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TCCTACAAATCTTGATCAATG	0.289000													16	39					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133729530	133729530	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:133729530C>T	ENST00000318560.5	+	2	540	c.159C>T	c.(157-159)aaC>aaT	p.N53N		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	53	CAP.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCAAGGAAAACCTTCTCGCTG	0.493000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								22	243					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845663	168845663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:168845663C>T	ENST00000464456.1	-	4	1435	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	MECOM_ENST00000433243.2_Missense_Mutation_p.E79K|MECOM_ENST00000460814.1_Missense_Mutation_p.E79K|MECOM_ENST00000494292.1_Missense_Mutation_p.E267K|MECOM_ENST00000392736.3_Missense_Mutation_p.E79K|MECOM_ENST00000264674.3_Missense_Mutation_p.E143K|MECOM_ENST00000472280.1_Missense_Mutation_p.E79K|MECOM_ENST00000468789.1_Missense_Mutation_p.E79K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTCACATTCCTTACACTCC	0.393000													73	141					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45377598	45377598	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45377598C>T	ENST00000252483.5	+	5	905	c.905C>T	c.(904-906)aCc>aTc	p.T302I	PVRL2_ENST00000252485.4_Missense_Mutation_p.T302I	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	302	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACCTCAGGCACCTTCCCGACC	0.612000													55	176					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160125888	160125888	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160125888C>T	ENST00000368081.4	+	4	936	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	155				S -> W (in Ref. 5; AAA60941).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGCTTCTCCTATTATCAGG	0.522000													24	89					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227709	49227709	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49227709G>A	ENST00000340334.7	-	3	457	c.89C>T	c.(88-90)tCc>tTc	p.S30F	FOLH1_ENST00000256999.2_Missense_Mutation_p.S45F|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.S30F|FOLH1_ENST00000356696.3_Missense_Mutation_p.S45F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	45					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTCATTGGAGGATTTTATAAA	0.303000													23	77					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141806755	141806755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141806755C>T	ENST00000389484.3	-	11	2560	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	530					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)		TCCTGGGCGTCCTTTCCCATA	0.393000										TSP Lung(27;0.18)			8	133					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25243704	25243704	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25243704C>T	ENST00000400358.4	+	4	300	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SGSM1_ENST00000400359.4_Silent_p.F81F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	81	RUN.					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						GCAAGAACTTCCCGCCGGCTG	0.627000													24	32					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22517264	22517264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:22517264C>T	ENST00000334304.5	-	1	413	c.144G>A	c.(142-144)cgG>cgA	p.R48R	GPR125_ENST00000502482.1_Silent_p.R48R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	48					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCCCTCGGGGCCGCCCATCGT	0.761000													4	3					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42867406	42867406	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42867406C>T	ENST00000334370.4	+	34	6699	c.6064C>T	c.(6064-6066)Ctg>Ttg	p.L2022L	MEGF8_ENST00000251268.6_Silent_p.L2089L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2089						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCAGCAGCCTGCAGCAGGT	0.647000													7	15					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89034507	89034507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:89034507G>A	ENST00000237612.3	-	9	1687	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	ABCG2_ENST00000515655.1_Missense_Mutation_p.S381F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	381					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TGAACGCTTGGAAACCCATCT	0.443000													6	188					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654320	159654320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:159654320C>T	ENST00000297267.9	+	11	2976	c.2776C>T	c.(2776-2778)Cca>Tca	p.P926S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P863S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	926						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAACCCATCCCAGAGAACCC	0.617000													20	19					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934918	113934918	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113934918G>A	ENST00000335953.4	+	2	1276	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R299Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	299					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CACTATGGGCGAGAGGAGAGT	0.662000													17	31					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6939866	6939866	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrY:6939866G>A	ENST00000383032.1	+	12	1536	c.889G>A	c.(889-891)Gac>Aac	p.D297N	TBL1Y_ENST00000346432.3_Missense_Mutation_p.D297N|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D297N	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	297					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTGGTGTAGACAAAGTGAG	0.423000													8	14					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71025383	71025383	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71025383G>A	ENST00000354624.5	+	17	2548	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	805					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGCAGCAGCTGGGCCTGG	0.677000													34	106					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15492332	15492332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:15492332G>A	ENST00000395906.3	-	12	2215	c.2216C>T	c.(2215-2217)cCg>cTg	p.P739L	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.P239L|CDRT1_ENST00000583965.1_3'UTR	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	739										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CACATGGGTCGGAGCTGTGGT	0.577000													17	49					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680330	47680330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47680330C>T	ENST00000283303.2	+	5	796	c.538C>T	c.(538-540)Cga>Tga	p.R180*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.R180*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.R237*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R180R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAATGTTACTCGAGAGAAAAT	0.274000													23	66					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1510858	1510858	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:1510858C>T	ENST00000330475.4	-	2	528	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.G39R	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	29						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTGACCCCCAAACCACAG	0.652000													9	21					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527718	65527718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:65527718G>A	ENST00000310193.3	-	4	1095	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	308					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCGCAGAAGATAATACATT	0.463000													8	72					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788508	42788508	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42788508C>T	ENST00000372980.3	-	2	1791	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGGAGCGTTCGCTCACGCCG	0.677000													13	42					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611418	17611418	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:17611418C>A	ENST00000381869.3	-	2	2372	c.1899G>T	c.(1897-1899)ttG>ttT	p.L633F	MTUS1_ENST00000381862.3_Missense_Mutation_p.L633F|MTUS1_ENST00000262102.6_Missense_Mutation_p.L633F|MTUS1_ENST00000519263.1_Missense_Mutation_p.L633F	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	633						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCTTCTGAAACAACGCAGAAA	0.438000													7	135					3.09899e-07	3.11352e-07	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15302860	15302860	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15302860G>A	ENST00000263388.2	-	4	665	c.590C>T	c.(589-591)cCc>cTc	p.P197L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	197	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCACCGCGGGGTTCTCACA	0.647000													31	58					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320331	46320331	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46320331G>A	ENST00000397850.2	-	8	1253	c.801C>T	c.(799-801)ttC>ttT	p.F267F	ITGB2_ENST00000397857.1_Silent_p.F267F|ITGB2_ENST00000355153.4_Silent_p.F267F|ITGB2_ENST00000397854.3_Silent_p.F210F|ITGB2_ENST00000302347.5_Silent_p.F267F|ITGB2_ENST00000397852.1_Silent_p.F267F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	267	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCGCGAAATGGAAGCCGTCAT	0.607000													5	138					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791935	41791935	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:41791935G>A	ENST00000396930.3	-	18	4346	c.3803C>T	c.(3802-3804)cCt>cTt	p.P1268L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P1268L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1268L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1268	Glu-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										ctccacctcAGGCTCCTTGGT	0.587000													10	31					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188247934	188247934	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:188247934T>C	ENST00000409998.1	-	6	931	c.150A>G	c.(148-150)caA>caG	p.Q50Q	CALCRL_ENST00000392370.3_Silent_p.Q50Q|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.Q50Q|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	50						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCATAATCTTTTGGTAACATT	0.343000													45	95					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446630	107446630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107446630G>A	ENST00000409382.3	-	5	1820	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.Q404*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.Q404*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	404					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAAAATGGCTGATTTGGGTTT	0.378000													39	109					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743338	16743338	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:16743338C>T	ENST00000381323.3	-	6	590	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	FAM49A_ENST00000355549.2_Missense_Mutation_p.E124K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E124K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	124						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGGGCCTGTTCCCTTTCCAGG	0.403000													27	77					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221461	55221461	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55221461G>A	ENST00000413439.1	+	0	1241																											CAAGGAGGGGGGACATGACCT	0.652000													34	43					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27823589	27823589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27823589C>T	ENST00000355467.4	+	6	572	c.489C>T	c.(487-489)atC>atT	p.I163I	ZNF512_ENST00000413371.2_Silent_p.I86I|ZNF512_ENST00000416005.2_Silent_p.I134I|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.I162I			Q96ME7	ZN512_HUMAN	zinc finger protein 512	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ACTTAGAAATCGTTGATAAAG	0.443000													32	77					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560857	9560857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9560857G>A	ENST00000378429.3	-	5	1471	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	309	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGTCCTTGGGGATGGGTT	0.552000													7	214					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761585	13761585	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13761585C>T	ENST00000279593.3	-	9	2171	c.1962G>A	c.(1960-1962)atG>atA	p.M654I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	654					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	CCTCTTGGATCATGAAGGCAG	0.502000													16	38					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437027	248437027	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248437027C>T	ENST00000318021.2	-	1	111	c.90G>A	c.(88-90)ctG>ctA	p.L30L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AAACGATACTCAGAACCATCA	0.488000													80	95					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163431	54163431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:54163431G>A	ENST00000265572.3	-	2	464	c.167C>T	c.(166-168)cCg>cTg	p.P56L	OPRK1_ENST00000520287.1_Missense_Mutation_p.P56L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	56					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CGGGATGGCCGGGGAGATGTG	0.687000													21	48					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710281	41710281	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41710281C>T	ENST00000400454.1	-	8	2007	c.1530G>A	c.(1528-1530)atG>atA	p.M510I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	510	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATGTTTTTCATTGGTCGAA	0.418000													27	41					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992868	124992868	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:124992868G>A	ENST00000522917.1	+	11	1433	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	FER1L6_ENST00000399018.1_Silent_p.R409R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	409						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCAGGACGGGCACAGGAAT	0.463000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	183					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111078251	111078251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:111078251G>A	ENST00000551590.1	+	8	1063	c.907G>A	c.(907-909)Gac>Aac	p.D303N	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.D125N|TCTN1_ENST00000397659.4_Missense_Mutation_p.D303N|TCTN1_ENST00000397655.3_Missense_Mutation_p.D289N|TCTN1_ENST00000551555.2_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	303					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CCGACGGGAGGACACTGATGT	0.502000													23	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179487441	179487441	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179487441C>T	ENST00000589042.1	-	243	45093	c.44869G>A	c.(44869-44871)Gaa>Aaa	p.E14957K	TTN_ENST00000359218.5_Missense_Mutation_p.E6017K|TTN_ENST00000591111.1_Missense_Mutation_p.E13316K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12389K|TTN_ENST00000460472.2_Missense_Mutation_p.E5892K|TTN_ENST00000342175.6_Missense_Mutation_p.E6084K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13316	Fibronectin type-III 8.						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)			CGAGCCATTTCTTTTTCTCTA	0.363000													9	19					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528034	155528034	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155528034C>T	ENST00000404648.3	-	8	1191	c.952G>A	c.(952-954)Ggc>Agc	p.G318S	FGG_ENST00000405164.1_Missense_Mutation_p.G326S|FGG_ENST00000407946.1_Missense_Mutation_p.G326S|FGG_ENST00000336098.3_Missense_Mutation_p.G318S	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	318	Fibrinogen C-terminal.		G -> V (in Baltimore-1; impaired polymerization).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAATCAAAGCCATCAAAGGCA	0.463000													62	91					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986977	166986977	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166986977C>T	ENST00000061240.2	+	16	2797	c.2150C>T	c.(2149-2151)aCt>aTt	p.T717I	TLL1_ENST00000507499.1_Missense_Mutation_p.T740I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	717	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGACAATACTGTATCCAAG	0.368000													9	122					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701532	143701532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143701532C>T	ENST00000408922.2	+	1	511	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCTCTTGGTTCCTGGGCCATT	0.562000													38	94					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75780054	75780054	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:75780054G>A	ENST00000376911.1	+	8	1517	c.635G>A	c.(634-636)aGg>aAg	p.R212K	ANXA1_ENST00000257497.6_Missense_Mutation_p.R212K			P04083	ANXA1_HUMAN	annexin A1	212					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGGAGAAAGGAGAAAGGGG	0.393000													26	45					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28949094	28949094	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28949094C>T	ENST00000538922.1	+	12	1496	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	CD19_ENST00000324662.3_Silent_p.F478F|CD19_ENST00000567541.1_Silent_p.F478F	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	478					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TTCCAGACTTCCTGAGCCCTC	0.602000													36	84					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239102963	239102963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:239102963C>T	ENST00000254654.3	-	3	306	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	44						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AAGCAAAGGTCCCCCTGATCC	0.423000													8	36					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60087964	60087964	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60087964G>A	ENST00000397786.2	-	9	1990	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	638					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATCATCCTTGAATTTATCAC	0.348000													25	87					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87778291	87778291	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87778291G>A	ENST00000398204.4	+	18	1808		c.e18-1		ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCATTTTAGTTTCAGCCTA	0.333000													10	29					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198351898	198351898	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:198351898C>A	ENST00000388968.3	-	12	1861	c.1594G>T	c.(1594-1596)Gct>Tct	p.A532S	HSPD1_ENST00000345042.2_Missense_Mutation_p.A532S	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	532					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ACACCAGCAGCATCCAATAAA	0.393000													24	56					1.06801e-11	1.07532e-11	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14748392	14748392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:14748392C>T	ENST00000218075.4	+	9	1674	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	GLRA2_ENST00000355020.4_Nonsense_Mutation_p.Q382*|GLRA2_ENST00000443437.2_Nonsense_Mutation_p.Q293*	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	382					neuropeptide signaling pathway	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			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCACTGCCTCCAAGTGAAAGA	0.488000													259	51					0	0	1	0	0
NIPAL2	79815	broad.mit.edu	37	8	99264714	99264714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:99264714G>A	ENST00000341166.3	-	3	608	c.353C>T	c.(352-354)cCg>cTg	p.P118L	NIPAL2_ENST00000430223.2_Missense_Mutation_p.P118L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	118						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ACAGCCTAACGGAGCGATCAG	0.463000													16	101					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671970	39671970	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:39671970C>T	ENST00000398930.1	+	4	1141	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	KCNJ15_ENST00000398934.1_Missense_Mutation_p.P263S|KCNJ15_ENST00000328656.3_Missense_Mutation_p.P263S|KCNJ15_ENST00000398932.1_Missense_Mutation_p.P263S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.P263S			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	263					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGAGACGAGCCCCCTGAGAGA	0.547000													26	56					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785198	8785198	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8785198C>T	ENST00000447110.1	-	16	2330	c.2205_splice	c.e16-1	p.G736_splice	PIK3R5_ENST00000581552.1_Splice_Site_p.G736_splice|PIK3R5_ENST00000584803.1_Splice_Site_p.G735_splice	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	736	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGATGGCCCCCTGGAAATGC	0.597000													21	24					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4795467	4795467	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:4795467C>T	ENST00000355280.6	+	17	2221	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	MINK1_ENST00000453408.3_Silent_p.I655I|MINK1_ENST00000347992.7_Silent_p.I675I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	675					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCTCATCTATCGCCACTGCCC	0.622000													6	13					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44160773	44160773	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44160773G>A	ENST00000221264.4	-	4	756	c.330C>T	c.(328-330)tcC>tcT	p.S110S	PLAUR_ENST00000340093.3_Silent_p.S110S|PLAUR_ENST00000339082.3_Silent_p.S110S|PLAUR_ENST00000601723.1_Silent_p.S110S	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	110	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AACGGCTTCGGGAATAGGTGA	0.592000													4	98					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8839943	8839943	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:8839943G>A	ENST00000396600.2	+	3	1094	c.156G>A	c.(154-156)ggG>ggA	p.G52G	ABAT_ENST00000268251.8_Silent_p.G52G|ABAT_ENST00000569156.1_Silent_p.G52G|ABAT_ENST00000567812.1_Silent_p.G67G|ABAT_ENST00000425191.2_Silent_p.G52G	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	52					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AAGTCCCAGGGCCTAGATCTC	0.483000													18	43					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2577944	2577944	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2577944G>A	ENST00000358864.1	+	10	1239	c.1224_splice	c.e10+1	p.K408_splice		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	408						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAGCTTCAAGGTAGTCACCC	0.488000													15	45					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019591	110019591	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110019591C>T	ENST00000369872.3	+	4	664	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	SYPL2_ENST00000401021.3_Missense_Mutation_p.P150S	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	150	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAAACGCTTCCCGCTGGTGGT	0.527000													19	40					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498542	123498542	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123498542G>A	ENST00000280562.5	-	3	331	c.126C>T	c.(124-126)atC>atT	p.I42I	PITPNM2_ENST00000320201.4_Silent_p.I42I|PITPNM2_ENST00000392428.1_Silent_p.I42I|PITPNM2_ENST00000546049.1_Silent_p.I42I|PITPNM2_ENST00000542749.1_Silent_p.I42I|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	42					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGTTCTCCAGGATCTCCACGC	0.582000													6	104					0	0	1	0	0
SPEF1	25876	broad.mit.edu	37	20	3760420	3760420	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3760420G>A	ENST00000379756.3	-	2	272	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	38						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCTGCAACAAGGACTGAGGGA	0.552000													14	34					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45241212	45241212	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45241212C>T	ENST00000263765.4	+	7	997	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.R250W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R216W			Q9NQV5	PRD11_HUMAN	PR domain containing 11	250	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAGGGACATCCGGCCTGGGGA	0.632000													30	55					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135551900	135551900	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135551900C>T	ENST00000513104.1	-	11	2689	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E742K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E687K|TRPC7-AS1_ENST00000514459.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	803					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGACTTCGTCATTTTCT	0.473000													11	23					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592157	119592157	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:119592157C>T	ENST00000267260.4	+	12	1889	c.1501C>T	c.(1501-1503)Ccg>Tcg	p.P501S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGAGACTCCCCGAGCCACCT	0.632000													11	17					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19191748	19191748	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19191748C>T	ENST00000562034.1	+	2	3833	c.35C>T	c.(34-36)tCt>tTt	p.S12F	SYT17_ENST00000562711.2_Missense_Mutation_p.S69F|SYT17_ENST00000568115.1_Missense_Mutation_p.S12F|SYT17_ENST00000355377.2_Missense_Mutation_p.S73F			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	73						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGTGACTCTGTCCACACG	0.592000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	70					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78363987	78363987	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78363987C>T	ENST00000582970.1	+	67	15604	c.15461C>T	c.(15460-15462)cCt>cTt	p.P5154L	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.P3227L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P5203L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCTTCCGCCCTCAGTGGAGG	0.483000													96	172					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451800	138451800	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138451800C>T	ENST00000344876.4	-	1	1829	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.G261G|PCDH18_ENST00000412923.2_Silent_p.G481G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	481	Cadherin 5.				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)					TGATATATGCCCCTGGTGAGT	0.383000													96	142					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149452924	149452924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149452924G>A	ENST00000286301.3	-	7	1313	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	341	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTCAGAAAAGGGTCCCAGGTA	0.562000													6	307					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110889310	110889310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:110889310G>A	ENST00000316534.4	-	17	1829	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R585*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R530*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R467*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R529*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	585					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGAATTTGTCGATAAAATATC	0.358000													27	36					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586588	143586588	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:143586588G>A	ENST00000507359.2	+	2	1402	c.311G>A	c.(310-312)gGa>gAa	p.G104E	KCTD16_ENST00000512467.1_Missense_Mutation_p.G104E	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	104						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAGAAAAAGGAAGACTGAAA	0.468000													31	53					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744698	70744698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:70744698C>T	ENST00000260126.3	-	2	917	c.211G>A	c.(211-213)Gag>Aag	p.E71K	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.E71K|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.E71K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	71						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCTTCAACTCCTGGTGGCCC	0.647000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	52					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234183408	234183408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234183408C>T	ENST00000392017.4	+	9	1195	c.938C>T	c.(937-939)aCt>aTt	p.T313I	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000373525.5_Missense_Mutation_p.T169I|ATG16L1_ENST00000392020.4_Missense_Mutation_p.T294I|ATG16L1_ENST00000347464.5_Missense_Mutation_p.T150I|ATG16L1_ENST00000392018.1_Missense_Mutation_p.T330I	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	313					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTACCAGCTACTGCCTTGTGT	0.502000													7	84					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957591	29957591	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29957591G>A	ENST00000216121.7	-	6	737	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	161								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GGTTTCTCCTGGACAGCAGCA	0.562000													66	94					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120169049	120169049	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120169049G>C	ENST00000260264.4	+	4	248	c.214G>C	c.(214-216)Gcc>Ccc	p.A72P	POU2F3_ENST00000543440.2_Missense_Mutation_p.A70P	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	70					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCAAGGACCTGCCATGATGTC	0.522000													121	114					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137041633	137041633	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:137041633G>A	ENST00000359015.4	-	2	903	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	181					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTAGAGGATGATGTTGTTGG	0.473000													45	74					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272217	22272217	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22272217C>T	ENST00000594947.1	+	4	1809	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAACCATTCCTCAAACCTTA	0.353000													13	16					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10036279	10036279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10036279C>T	ENST00000378380.3	+	10	2631	c.2302C>T	c.(2302-2304)Cga>Tga	p.R768*	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.R768*|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AGAGAAAGCTCGAGCACTGGA	0.453000													21	74					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260171	90260171	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90260171G>A	ENST00000471857.1	+	0	455																											ATCTGGGACAGATTTCACTCT	0.478000													11	270					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933589	94933589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94933589C>T	ENST00000337425.5	-	3	887	c.813G>A	c.(811-813)gaG>gaA	p.E271E	SERPINA9_ENST00000424550.2_Silent_p.E122E|SERPINA9_ENST00000380365.3_Silent_p.E253E|SERPINA9_ENST00000546329.1_Silent_p.E235E|SERPINA9_ENST00000298845.7_Silent_p.E171E|SERPINA9_ENST00000448305.2_Silent_p.E173E	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	253					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCAGTTCAGCTCTGTATCCA	0.522000													19	49					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176708	41176708	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41176708G>A	ENST00000263413.3	-	8	1301	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.P346L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	346	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTATTCTAGAGGCAGATGGTT	0.408000													36	111					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808371	241808371	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241808371C>T	ENST00000307503.3	+	1	476	c.89C>T	c.(88-90)cCt>cTt	p.P30L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	30					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCCTGGTCCTTCCAACCTG	0.652000													6	119					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53025832	53025832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53025832C>T	ENST00000276480.7	-	26	3753	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1024						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)				TAGTCCCGTTCCAGATTGCTG	0.448000													43	85					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723655	28723655	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28723655C>T	ENST00000257197.3	-	8	1300	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E347K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	347	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGTCATTTTCATCCTCAAGT	0.338000													26	42					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284440	42284440	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:42284440C>T	ENST00000294964.5	+	6	1482	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	434	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGAGCTGCCTCCTTTCAGTGT	0.592000													56	135					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158390483	158390483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158390483G>A	ENST00000243349.7	-	9	1789	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	ACVR1C_ENST00000409680.3_Missense_Mutation_p.R427C|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R320C|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R397C	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	477	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|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						TTCTTAATACGAAGAGCAGTT	0.388000													38	96					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32555105	32555105	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32555105G>A	ENST00000382097.3	-	1	170	c.98C>T	c.(97-99)cCt>cTt	p.P33L		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	33										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACAGTCTCAGGAATCTCACA	0.577000													34	126					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151907142	151907142	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:151907142T>G	ENST00000367290.5	+	7	1300	c.1211T>G	c.(1210-1212)cTt>cGt	p.L404R	CCDC170_ENST00000239374.7_Missense_Mutation_p.L404R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	404																	TTGGAGACTCTTCAGGGTCAG	0.483000													12	40					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621096	135621096	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135621096G>A	ENST00000356140.5	+	5	517	c.381G>A	c.(379-381)aaG>aaA	p.K127K	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.K69K|ACMSD_ENST00000283054.4_Silent_p.K69K	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	127					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGGCGGTCAAGGAGATGGAGC	0.597000													15	65					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111312580C>T	ENST00000317012.4	-	2	1477	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	157							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000													58	88					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322309	103322309	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103322309C>T	ENST00000233969.2	+	11	2124	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	661						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						TTACAGGCTTCCACTTCAACC	0.294000													16	40					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028170	76028170	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76028170C>T	ENST00000319211.4	+	2	385	c.120C>T	c.(118-120)ccC>ccT	p.P40P		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	40					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTTAGATCCCCGGTCATTTC	0.353000													5	109					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169955	118169955	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:118169955C>T	ENST00000427715.2	+	7	731	c.297C>T	c.(295-297)atC>atT	p.I99I	SLC30A8_ENST00000456015.2_Silent_p.I148I|SLC30A8_ENST00000519688.1_Silent_p.I99I|SLC30A8_ENST00000521243.1_Silent_p.I99I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	148					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTCTCCATCCTGTGCATCT	0.512000													19	266					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	11058378	11058378	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:11058378C>T	ENST00000416569.2	-	1	497	c.471G>A	c.(469-471)ggG>ggA	p.G157G	XKR6_ENST00000297303.4_Silent_p.G157G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	157						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGACGTAGTCCCCCTTGCGGT	0.657000													36	103					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66786570	66786570	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:66786570C>T	ENST00000359742.4	-	18	2396	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	GRIP1_ENST00000398016.3_Missense_Mutation_p.R667Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.R719Q			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	719	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGCTAGGATTCGGTCTCCTAT	0.428000													44	151					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341383	136341383	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136341383C>T	ENST00000371899.4	-	4	615	c.538G>A	c.(538-540)Gga>Aga	p.G180R	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.G180R	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	180						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GACAGGGATCCGAACACTGCC	0.652000													18	63					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6682784	6682784	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6682784C>T	ENST00000518724.1	-	0	480							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GTCGAAGGGCCGACAGGTCGG	0.602000													19	26					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138191562	138191562	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138191562C>T	ENST00000389567.4	+	18	2284	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	700						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCTCCAGGGCCCATCAAGTC	0.597000													56	130					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207383	24207383	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24207383C>T	ENST00000265769.4	+	19	2107	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.L414L|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	666					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)		GCAGACTTCTCCATTGTGGTT	0.498000													9	164					0	0	1	0	0
HES4	57801	broad.mit.edu	37	1	934770	934770	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:934770G>C	ENST00000428771.2	-	3	611	c.413C>G	c.(412-414)gCc>gGc	p.A138G	HES4_ENST00000304952.6_Missense_Mutation_p.A112G|HES4_ENST00000484667.2_Missense_Mutation_p.A80G	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	112	Orange.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAAGCCGGCGCGGTACTT	0.761000													3	8					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283195	5283195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:5283195G>A	ENST00000546004.1	-	3	892	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Q216*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	216						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TAGAGCTGCTGATCCACAGGC	0.522000										HNSCC(71;0.22)			75	117					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997980	144997980	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144997980G>A	ENST00000322810.4	-	31	6697	c.6528C>T	c.(6526-6528)gcC>gcT	p.A2176A	PLEC_ENST00000356346.3_Silent_p.A2025A|PLEC_ENST00000354589.3_Silent_p.A2039A|PLEC_ENST00000398774.2_Silent_p.A2007A|PLEC_ENST00000527096.1_Silent_p.A2062A|PLEC_ENST00000436759.2_Silent_p.A2066A|PLEC_ENST00000354958.2_Silent_p.A2017A|PLEC_ENST00000345136.3_Silent_p.A2039A|PLEC_ENST00000357649.2_Silent_p.A2043A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2176	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCTCCTGGGCCAGCTGCA	0.706000													6	19					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350515	100350515	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100350515C>T	ENST00000542585.1	+	0	2935				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACTGAAG	0.502000													81	277					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279764	1279764	+	Missense_Mutation	SNP	C	C	T	rs139936295		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:1279764C>T	ENST00000381312.1	-	6	1710	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	462	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAATATCGATCGCTCTGAGTC	0.527000													49	92					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42808946	42808946	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:42808946C>T	ENST00000398600.2	+	9	1328	c.303C>T	c.(301-303)atC>atT	p.I101I	MX1_ENST00000288383.6_Silent_p.I78I|MX1_ENST00000455164.2_Silent_p.I101I|MX1_ENST00000398598.3_Silent_p.I101I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	101					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCCTAGGGATCGTGACCAGAT	0.478000													17	51					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20505537	20505537	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:20505537G>A	ENST00000202677.6	-	29	3841	c.3699C>T	c.(3697-3699)ctC>ctT	p.L1233L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1233					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGTGGCCACGAGGATCTGCA	0.418000													7	9					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10188320	10188320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:10188320C>T	ENST00000535335.1	+	3	1021	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	KLF11_ENST00000305883.1_Missense_Mutation_p.L286F|KLF11_ENST00000540845.1_Missense_Mutation_p.L269F	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	286					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCCCCCTGTCCTTTGCCAGAT	0.522000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	86					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105630	65105630	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65105630G>A	ENST00000358691.5	-	29	4257	c.4091C>T	c.(4090-4092)cCc>cTc	p.P1364L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1365L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGTAGCTGGGGAAGGGGATG	0.473000													4	161					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37399357	37399357	+	Missense_Mutation	SNP	G	G	A	rs76856236	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37399357G>A	ENST00000520965.1	-	4	410	c.344C>T	c.(343-345)cCg>cTg	p.P115L	ZNF829_ENST00000391711.3_Missense_Mutation_p.P34L|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACATCACCGGCCCCTGAAA	0.428000													35	87					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169086426	169086426	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169086426T>A	ENST00000359299.3	+	6	615	c.429T>A	c.(427-429)atT>atA	p.I143I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	143							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGGACATTTATTCAGAGA	0.333000													36	61					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048431	104048431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104048431G>A	ENST00000374874.3	+	4	737	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E100K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		100						integral to membrane	catalytic activity										ATCAACAAGAGAATCCCTGAT	0.378000													5	123					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677466	19677466	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:19677466G>A	ENST00000328041.6	+	14	1714	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	506						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACACCCTGGGGATTCCTGAC	0.572000													15	58					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45516916	45516916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:45516916C>T	ENST00000359600.5	-	5	1467	c.1262G>A	c.(1261-1263)tGg>tAg	p.W421*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	421							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)					TATGCACACCCATAAAGCCCC	0.443000													29	71					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12820721	12820721	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12820721G>A	ENST00000288048.5	+	4	638	c.422G>A	c.(421-423)gGa>gAa	p.G141E	C1orf158_ENST00000376210.3_Missense_Mutation_p.G103E	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	141										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAACTATGGACTCTATGAG	0.537000													31	112					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283319	5283319	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:5283319G>A	ENST00000546004.1	-	3	768	c.522C>T	c.(520-522)atC>atT	p.I174I	PROKR2_ENST00000217270.3_Silent_p.I174I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	174						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I174I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGACCAAGGCGATCAGGAAGG	0.488000										HNSCC(71;0.22)			52	180					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43216289	43216289	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:43216289G>A	ENST00000522175.2	+	0	1542							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGAAGTGGCCGAAAAAAAAAT	0.284000													5	6					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149034	142149034	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142149034G>A	ENST00000390372.3	-	0	243																											ATCGATCAGGGAAGTTTCCTC	0.522000													55	171					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101629944	101629944	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101629944G>A	ENST00000311812.2	-	5	486	c.336C>T	c.(334-336)atC>atT	p.I112I	SNX31_ENST00000428383.2_Silent_p.I13I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	112					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCTTGGTGGCGATGTCAAATG	0.383000													43	81					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:234367362G>A	ENST00000366618.3	+	3	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_ENST00000366617.3_Silent_p.R92R	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	92					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)			TGACCTTCAGGAAGTTCGACG	0.602000													92	278					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53345395	53345395	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:53345395C>T	ENST00000226067.5	+	2	872	c.399C>T	c.(397-399)ccC>ccT	p.P133P	HLF_ENST00000430986.2_Silent_p.P48P|HLF_ENST00000573945.1_Silent_p.P48P|HLF_ENST00000575345.1_Silent_p.P48P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	133					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CCTCTGCACCCCTTCACCCTG	0.622000			T	TCF3	ALL								63	133					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760613	176760613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176760613G>A	ENST00000367662.3	+	19	6179	c.5015G>A	c.(5014-5016)gGg>gAg	p.G1672E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1672	Sushi 5.				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						CAAGGATATGGGATTGGTAAG	0.378000													47	47					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257854	34257854	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:34257854G>A	ENST00000379166.2	-	11	1870	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	KIF24_ENST00000379174.3_Missense_Mutation_p.S450F|KIF24_ENST00000345050.2_Missense_Mutation_p.S450F|KIF24_ENST00000402558.2_Missense_Mutation_p.S584F	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	584					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTTTTGGGAGAACATTTGTC	0.522000													8	102					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920040	48920040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48920040G>A	ENST00000310194.1	+	1	626	c.626G>A	c.(625-627)gGa>gAa	p.G209E	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATGGGCTGGGAAACTTCCTT	0.522000													30	60					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006511	74006511	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74006511C>T	ENST00000301607.3	-	22	3028	c.2775G>A	c.(2773-2775)agG>agA	p.R925R	EVPL_ENST00000586740.1_Silent_p.R947R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	925	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCCGCTTCCTCTCCTCTT	0.647000													45	93					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601750	64601750	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:64601750C>T	ENST00000498707.1	-	20	3252	c.2910G>A	c.(2908-2910)ggG>ggA	p.G970G	ADAMTS9_ENST00000295903.4_Silent_p.G942G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	970	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCTCAGTCTTCCCATCCAGCC	0.507000													119	292					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038033	75038033	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75038033C>T	ENST00000326665.5	-	14	3579	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1121	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATCCCATTTCATTTGGGGGA	0.448000													49	83					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756208	145756208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145756208G>A	ENST00000276826.5	-	9	3136	c.2935C>T	c.(2935-2937)Ccg>Tcg	p.P979S	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P1010S|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P979S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	979	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AACTCGTGCGGGATCAGGGGC	0.711000													11	34					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783701	74783701	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74783701C>T	ENST00000233668.5	+	5	1575	c.906C>T	c.(904-906)tcC>tcT	p.S302S	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Silent_p.S163S|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	302	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTAGACTCCCTGCGCATTG	0.612000													40	137					0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64847030	64847030	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64847030G>A	ENST00000275517.3	-	5	645	c.473C>T	c.(472-474)tCc>tTc	p.S158F	CDCA5_ENST00000404147.3_Missense_Mutation_p.S158F	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	158					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCTGGGGTGGAGGTAGAGGC	0.617000													24	44					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8707983	8707983	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:8707983C>T	ENST00000378641.3	+	17	2181	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	PLCB1_ENST00000378637.2_Missense_Mutation_p.S569F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S569F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	569	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAATGTCTTCCTTCGTGGAA	0.343000													21	42					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228717	3228717	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3228717C>T	ENST00000217939.6	-	7	7681	c.7527G>A	c.(7525-7527)agG>agA	p.R2509R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2509	Ig-like C2-type 9.					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)				AGTCGCTCTTCCTCAAACTCC	0.572000													7	1					0	0	1	0	0
CALM3	808	broad.mit.edu	37	19	47111768	47111768	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47111768C>T	ENST00000291295.9	+	4	407	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	CALM3_ENST00000599839.1_Silent_p.L34L|CALM3_ENST00000594523.1_Silent_p.L34L|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000391918.2_Silent_p.L34L|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Silent_p.L34L|CALM3_ENST00000596362.1_Silent_p.L70L	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	70	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CCCGGAGTTCCTGACCATGAT	0.582000													8	109					0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26691530	26691530	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26691530T>C	ENST00000536498.1	-	10	1805	c.408A>G	c.(406-408)caA>caG	p.Q136Q	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000431468.1_Silent_p.Q137Q|SEBOX_ENST00000438614.1_Silent_p.Q136Q|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	137					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGGTGGAGGTTGGCCTGGCA	0.622000													13	52					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499093	142499093	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142499093G>A	ENST00000466254.1	+	0	369																											CGTCAGCGCCGAGGCCTGGGG	0.597000													28	246					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103111612	103111612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:103111612G>A	ENST00000374902.4	-	2	210	c.34C>T	c.(34-36)Caa>Taa	p.Q12*	TEX10_ENST00000535814.1_Nonsense_Mutation_p.Q15*|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	12						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTACTTTTTGAAAATCATGT	0.289000													14	30					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531263	50531263	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50531263C>T	ENST00000374144.3	+	3	961	c.673C>T	c.(673-675)Cca>Tca	p.P225S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P225S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	225										endometrium(1)	1						CTCCAAGAATCCAGAAATGGC	0.562000													19	25					0	0	1	0	0
ZAR1	326340	broad.mit.edu	37	4	48492800	48492800	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48492800C>T	ENST00000327939.4	+	1	532	c.492C>T	c.(490-492)agC>agT	p.S164S		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	164					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						AGCAGGGCAGCCCCCAGAACG	0.776000													7	11					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129292561	129292561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129292561C>T	ENST00000393239.1	-	13	2891	c.2713G>A	c.(2713-2715)Ggt>Agt	p.G905S	PLXND1_ENST00000324093.4_Missense_Mutation_p.G905S			Q9Y4D7	PLXD1_HUMAN	plexin D1	905	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGGTCCCACCGTCCAACGGG	0.662000													10	28					0	0	1	0	0
IGLV5-48	28780	broad.mit.edu	37	22	22707495	22707495	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22707495C>T	ENST00000390293.1	+	0	83																											CAGCCAACTTCCCTCTCAGCA	0.483000													50	155					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147548	54147548	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:54147548C>T	ENST00000265572.3	-	3	678	c.381G>A	c.(379-381)ggG>ggA	p.G127G	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.G127G|OPRK1_ENST00000524278.1_Silent_p.G38G	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	127					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACAGCACATCCCCAAAAGGCC	0.438000													46	76					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224585815	224585815	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:224585815G>A	ENST00000414423.2	-	12	1951	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Silent_p.I439I	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	586						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TGCCACTAGCGATGAAGTCTT	0.358000													36	46					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660763	46660763	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46660763C>T	ENST00000544460.1	+	1	5152	c.4898C>T	c.(4897-4899)cCa>cTa	p.P1633L	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1633L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1633					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)			CAAGCCTTTCCATGTTGCCTC	0.418000													53	148					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028191	102028191	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102028191G>A	ENST00000510508.4	+	1	504	c.358G>A	c.(358-360)Ggc>Agc	p.G120S	DIO3_ENST00000359323.3_Missense_Mutation_p.G94S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	94					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGTGGCATGGCCAGAAGTT	0.652000													49	115					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852663	15852663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15852663C>T	ENST00000305892.1	+	1	461	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTGGTGGCTCGGTCATGGGG	0.507000													51	81					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47463768	47463768	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47463768C>T	ENST00000285039.7	-	15	2052		c.e15-1			NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB						protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTAGTGGGAACTAGAAACAAT	0.473000													19	58					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30776802	30776802	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30776802C>T	ENST00000324685.6	+	8	1410	c.975C>T	c.(973-975)atC>atT	p.I325I	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Silent_p.I325I|RNF40_ENST00000357890.5_Silent_p.I325I	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	325					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGGCCAGATCACACTCAGCA	0.527000													21	48					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018986	62018986	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62018986G>A	ENST00000578147.1	-	24	4732	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D	SCN4A_ENST00000435607.1_Silent_p.D1552D			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1552					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGGGTCACAGTCTGGGGGCC	0.607000													24	63					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084706	58084706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58084706G>A	ENST00000196489.3	-	4	788	c.566C>T	c.(565-567)cCg>cTg	p.P189L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AATAGCTTGCGGCTGAAGAAT	0.478000													49	85					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49189957	49189957	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:49189957C>T	ENST00000406846.2	-	10	2122	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	FSHR_ENST00000304421.4_Missense_Mutation_p.R642K|FSHR_ENST00000346173.3_Missense_Mutation_p.R606K|FSHR_ENST00000541117.1_Missense_Mutation_p.R404K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	668					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTGGCCATTCCTTGGATGGGT	0.438000									Gonadal Dysgenesis, 46 XX				33	92					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440103	40440103	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40440103T>G	ENST00000319592.4	-	4	1517	c.808A>C	c.(808-810)Aac>Cac	p.N270H	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.N270H|RBM47_ENST00000514014.1_Missense_Mutation_p.N232H|RBM47_ENST00000295971.7_Missense_Mutation_p.N270H|RBM47_ENST00000381793.2_Missense_Mutation_p.N270H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	270	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CAGCCGGGGTTGAACTGGCCG	0.597000													39	84					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961154	133961154	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133961154G>A	ENST00000220616.4	+	27	5407	c.5367G>A	c.(5365-5367)gtG>gtA	p.V1789V	TG_ENST00000377869.1_Silent_p.V1732V|TG_ENST00000542445.1_Silent_p.V159V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1789					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCACCAGGTGATATTGCGTC	0.468000													49	117					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50530498	50530498	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50530498G>A	ENST00000262794.5	+	2	249	c.166G>A	c.(166-168)Gat>Aat	p.D56N	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D56N|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D56N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D36N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	56					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATGATTGATGATATGATCTA	0.438000													43	160					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38542981	38542981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38542981C>T	ENST00000287675.5	+	3	545	c.449C>T	c.(448-450)tCa>tTa	p.S150L	EXOG_ENST00000422077.2_Missense_Mutation_p.S100L|EXOG_ENST00000358249.2_Missense_Mutation_p.S10L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	150						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AACAAATTTTCAAGTGTAGGC	0.438000													33	46					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030397	10030397	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10030397G>A	ENST00000378380.3	+	6	1509	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.E394K|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CAATATTAATGAATTCTTTAA	0.428000													44	71					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29725135	29725135	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:29725135G>A	ENST00000256062.5	-	9	1584	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.L479L|TMTC1_ENST00000381224.2_Silent_p.L433L|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Silent_p.L541L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	479						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTGTGGGGCAGAGTTTGAACT	0.363000													35	51					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442757	77442757	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:77442757C>T	ENST00000451710.3	-	7	1015	c.778G>A	c.(778-780)Gga>Aga	p.G260R	TRPM6_ENST00000376871.3_Missense_Mutation_p.G260R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G255R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G260R|TRPM6_ENST00000359047.2_Missense_Mutation_p.G260R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G260R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G255R|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Missense_Mutation_p.G260R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	260					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTCATTTCCATACTTGCCC	0.512000													47	82					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102242484	102242484	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102242484G>A	ENST00000335968.3	-	9	1395	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	393					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCCTCTTGGAACTTTTCCC	0.433000													60	129					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108476000	108476000	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108476000T>C	ENST00000295755.6	-	1	231	c.33A>G	c.(31-33)ctA>ctG	p.L11L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	11					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GAAGGGGGATTAGGATGAGAA	0.507000													18	41					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681638	3681638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:3681638G>A	ENST00000404826.2	+	4	753	c.614G>A	c.(613-615)gGa>gAa	p.G205E	SDK1_ENST00000389531.3_Missense_Mutation_p.G205E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	205	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTTTCTCAAGGACGTGCAGCG	0.453000													31	64					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935855	94935855	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94935855G>A	ENST00000337425.5	-	2	451	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S108F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S90F|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S28F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	108					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTGGATGGCAGACTCTGGTGT	0.577000													52	82					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199111	155199111	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155199111C>T	ENST00000460012.1	-	23	4971	c.4614G>A	c.(4612-4614)agG>agA	p.R1538R	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.R1538R|PLCH1_ENST00000340059.7_Silent_p.R1576R|PLCH1_ENST00000334686.6_Silent_p.R1538R|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1576					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGACAACTTCCTGACCAGTG	0.517000													59	97					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223035	78223035	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78223035C>T	ENST00000361193.3	+	16	1885	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	SLC26A11_ENST00000411502.3_Silent_p.L535L|SLC26A11_ENST00000572725.1_Silent_p.L535L|SLC26A11_ENST00000546047.2_Silent_p.L535L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	535	STAS.					endoplasmic reticulum|Golgi apparatus|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)			TCGGCGAGCTCCTCCAGGACT	0.662000													15	55					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839805	109839805	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109839805G>A	ENST00000357155.1	-	4	486	c.437C>T	c.(436-438)cCa>cTa	p.P146L	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	146	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGGAGGGCCTGGCCTCTCTGA	0.552000													53	149					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605631	179605631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179605631C>T	ENST00000589042.1	-	48	12553	c.12329G>A	c.(12328-12330)gGa>gAa	p.G4110E	TTN_ENST00000359218.5_Missense_Mutation_p.G3872E|TTN_ENST00000591111.1_Missense_Mutation_p.G3793E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G3747E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3939E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3793							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)			TTCCTGAGCTCCCAAAGGAAG	0.418000													49	84					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782645	134782645	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:134782645C>T	ENST00000503143.2	-	1	393	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	52						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCAGCAGCTCATTCCCAAAG	0.622000													21	34					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931525	184931525	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:184931525C>T	ENST00000308497.4	+	3	2969	c.1534C>T	c.(1534-1536)Ctt>Ttt	p.L512F	STOX2_ENST00000438269.1_Missense_Mutation_p.L512F	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	512					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCCGGAAGACCTTGCTGAAGG	0.542000													7	19					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479738	27479738	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27479738G>A	ENST00000233535.4	-	6	1153	c.801C>T	c.(799-801)ccC>ccT	p.P267P	SLC30A3_ENST00000447008.2_Silent_p.P262P	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	267					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGCTGATGGGGTCGGCTG	0.547000													20	43					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103136296	103136296	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103136296C>T	ENST00000424685.2	-	57	9402	c.9243G>A	c.(9241-9243)agG>agA	p.R3081R	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R3081R|RELN_ENST00000428762.1_Silent_p.R3081R			P78509	RELN_HUMAN	reelin	3081					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCCTGCTGTCCTTACAGCAT	0.398000													35	189					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409233	105409233	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105409233G>A	ENST00000333244.5	-	7	12674	c.12555C>T	c.(12553-12555)tcC>tcT	p.S4185S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4185						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCGGAAGGGGACTGAATGC	0.657000													16	452					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740884	37740884	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37740884G>A	ENST00000536622.1	+	12	2376	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000539465.1_Intron|FRMPD1_ENST00000377765.3_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E656K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	794						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCGTCAGGTGAGCCGTCCCT	0.627000													24	50					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033210	41033210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41033210G>A	ENST00000380620.3	+	5	1316	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.E242K|B3GALT5_ENST00000380618.1_Missense_Mutation_p.E242K|B3GALT5_ENST00000398714.2_Missense_Mutation_p.E242K			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	242					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CATTAAACTGGAAGACGTGTT	0.557000													5	166					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548624	20548624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20548624G>A	ENST00000329697.6	-	14	1858	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R485*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	564					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R564*(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCTTGTCTCGAAGTTTGGTT	0.463000													118	265					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1097355	1097355	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1097355G>A	ENST00000441003.2	+	35	6798	c.6771G>A	c.(6769-6771)aaG>aaA	p.K2257K	MUC2_ENST00000361558.6_Silent_p.K395K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4619						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACAACACCAAGGGCCAGTGTG	0.672000													22	23					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370422	97370422	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97370422G>A	ENST00000457909.1	+	0	5670							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCAGCCCCAGGAGACTAATTA	0.488000													19	61					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223556	10223556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10223556C>T	ENST00000418404.3	-	25	3425	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1088K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1088K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1088					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTTCAAACTCCTTCCTGCAA	0.368000													4	17					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912104	158912104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158912104G>A	ENST00000368140.1	+	5	1162	c.917G>A	c.(916-918)aGa>aAa	p.R306K	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R297K|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R297K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R306K	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	306	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GACATCATCAGAAGAGCAAAG	0.373000													45	53					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539774	55539774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55539774C>T	ENST00000220676.1	+	4	3480	c.3332C>T	c.(3331-3333)tCa>tTa	p.S1111L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1111					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S1111L(1)		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)			ATGCCAGGTTCACTTGCAGGT	0.428000													26	63					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616082	92616082	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92616082G>A	ENST00000298047.6	+	23	12477	c.12460G>A	c.(12460-12462)Gag>Aag	p.E4154K	FAT3_ENST00000409404.2_Missense_Mutation_p.E4154K|FAT3_ENST00000533797.1_Missense_Mutation_p.E489K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4004K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4154					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)				GGGGAAGGAGGAGCTCATCGG	0.602000										TCGA Ovarian(4;0.039)			11	16					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851906	76851906	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76851906G>A	ENST00000262768.7	-	5	804	c.506C>T	c.(505-507)cCg>cTg	p.P169L	RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000586057.1_Missense_Mutation_p.P92L|TIMP2_ENST00000536189.2_Missense_Mutation_p.P92L|TIMP2_ENST00000585421.1_Missense_Mutation_p.P92L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GCACTCGTCCGGGGAGGAGAT	0.637000													8	172					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308365	7308365	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:7308365C>T	ENST00000398462.2	-	3	422	c.272G>A	c.(271-273)aGa>aAa	p.R91K	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000458665.1_Missense_Mutation_p.R38K|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R91K|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000297498.2_3'UTR	NM_058201.2	NP_478108.2	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GAAAAAAAGTCTGCAGATCCC	0.408000													32	175					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	977134	977134	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:977134C>T	ENST00000537687.1	+	9	2885	c.2242C>T	c.(2242-2244)Ccc>Tcc	p.P748S	WNK1_ENST00000574564.1_Missense_Mutation_p.P47S|WNK1_ENST00000530271.2_Missense_Mutation_p.P833S|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	751					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCACCACCTCCCACCTGCCC	0.537000													32	63					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72091239	72091239	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72091239T>C	ENST00000266673.5	+	4	1156	c.562T>C	c.(562-564)Tgg>Cgg	p.W188R	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.W188R	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	188						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGGAGACACATGGGCTTCAGA	0.498000													54	127					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743579	81743579	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81743579C>T	ENST00000555447.1	-	6	2488	c.2076G>A	c.(2074-2076)acG>acA	p.T692T	STON2_ENST00000267540.2_Silent_p.T692T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	692	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACTTGTGGCCGTCCTGAGTG	0.562000													5	189					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481481	159481481	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:159481481C>T	ENST00000389757.3	+	7	820	c.695C>T	c.(694-696)cCt>cTt	p.P232L	PKP4_ENST00000389759.3_Missense_Mutation_p.P232L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	232					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGCGTGTCTCCTTCAAGGGGG	0.517000										HNSCC(62;0.18)			49	116					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168032898	168032898	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:168032898G>A	ENST00000367840.3	+	18	2434	c.2340G>A	c.(2338-2340)cgG>cgA	p.R780R	DCAF6_ENST00000432587.2_Silent_p.R749R|DCAF6_ENST00000312263.6_Silent_p.R689R|DCAF6_ENST00000367843.3_Silent_p.R709R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	689					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTTCAGACGGAGAAAAGAAA	0.343000													28	20					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384439	25384439	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25384439C>T	ENST00000405623.1	-	3	770	c.315G>A	c.(313-315)gaG>gaA	p.E105E	POMC_ENST00000264708.3_Silent_p.E105E|POMC_ENST00000395826.2_Silent_p.E105E|POMC_ENST00000380794.1_Silent_p.E105E			P01189	COLI_HUMAN	proopiomelanocortin	105					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTGAGACGTCCTCGCGCTTCT	0.731000													5	9					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671539	39671539	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:39671539T>G	ENST00000398930.1	+	4	710	c.356T>G	c.(355-357)cTc>cGc	p.L119R	KCNJ15_ENST00000398934.1_Missense_Mutation_p.L119R|KCNJ15_ENST00000328656.3_Missense_Mutation_p.L119R|KCNJ15_ENST00000398932.1_Missense_Mutation_p.L119R|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L119R			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	119					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGGGCGTTTCTCTTTTCCCTG	0.498000													5	167					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44427677	44427677	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44427677C>T	ENST00000291547.5	+	3	339	c.128C>T	c.(127-129)cCc>cTc	p.P43L	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	43							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTGAGCCCTCCCCCTGTGGAG	0.527000													77	120					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134944	233134944	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233134944G>A	ENST00000258229.8	-	31	5744	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S489F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1837						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCTAGGTAGGATGTGGTTAG	0.522000													22	26					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340382	1340382	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1340382G>A	ENST00000300574.2	-	2	449	c.309C>T	c.(307-309)ttC>ttT	p.F103F	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.F103F|CRK_ENST00000574295.1_Silent_p.F103F	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	103	SH2.				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	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		GTATTTTGTAGAATTCCAGTA	0.458000													7	123					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758209	5758209	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5758209C>T	ENST00000317121.3	+	1	529	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AAAAGCTACCCTGTTCATGGT	0.438000													53	40					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16208927	16208927	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:16208927C>T	ENST00000399408.2	+	24	3589	c.3414C>T	c.(3412-3414)ttC>ttT	p.F1138F	ABCC1_ENST00000349029.5_Silent_p.F1013F|ABCC1_ENST00000351154.5_Silent_p.F1069F|ABCC1_ENST00000399410.3_Silent_p.F1128F|ABCC1_ENST00000346370.5_Silent_p.F1072F|ABCC1_ENST00000345148.5_Silent_p.F1128F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1128	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTACTTCTTCGTCCAGGTAA	0.532000													4	59					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21006413	21006413	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:21006413G>A	ENST00000382812.1	-	6	623	c.395C>T	c.(394-396)cCg>cTg	p.P132L	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Missense_Mutation_p.P154L			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	154					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTCAACCAGCGGGATGTAGTA	0.587000													23	62					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836521	82836521	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82836521C>G	ENST00000265077.3	+	8	8264	c.7699C>G	c.(7699-7701)Cta>Gta	p.L2567V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.L1580V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2567	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTTGAAATTCTACCTGAGCT	0.333000													42	80					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756774	56756774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56756774C>T	ENST00000326855.2	+	1	428	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATCTGTAAGCCCCTTCACTAT	0.433000													42	95					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37399358	37399358	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37399358G>A	ENST00000520965.1	-	4	409	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S	ZNF829_ENST00000391711.3_Missense_Mutation_p.P34S|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACATCACCGGCCCCTGAAAC	0.428000													34	87					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375405	175375405	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175375405G>A	ENST00000367674.1	-	3	1154	c.446C>T	c.(445-447)tCg>tTg	p.S149L	TNR_ENST00000263525.2_Missense_Mutation_p.S149L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	149					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGCAGCACCGACACCTCCCT	0.612000													64	100					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028094	170028094	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:170028094G>A	ENST00000284637.9	-	11	2743	c.2402C>T	c.(2401-2403)tCc>tTc	p.S801F		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	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)		GGAGTCCAGGGAACTTGCCTT	0.612000													30	80					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852273	20852273	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20852273G>C	ENST00000382148.3	-	2	442	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	KCNIP4_ENST00000359001.5_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.L40V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.L61V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.L27V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	61	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCCATCTCCAGTTCATCTTCC	0.493000													32	51					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43574283	43574283	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43574283C>T	ENST00000452443.2	-	9	1114	c.1108_splice	c.e9-1	p.G370_splice		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	370					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGCAGAACAGCCCTGTGGAGG	0.612000													17	40					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847568	65847568	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:65847568C>T	ENST00000308259.5	+	6	627	c.353C>T	c.(352-354)tCc>tTc	p.S118F	MSRB3_ENST00000535664.1_Missense_Mutation_p.S118F|MSRB3_ENST00000540804.1_Missense_Mutation_p.S125F|MSRB3_ENST00000355192.3_Missense_Mutation_p.S125F	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	125					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGACTTTTCCTATGGGATG	0.458000													33	65					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696003	103696003	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:103696003G>A	ENST00000548048.1	-	9	1261	c.765C>T	c.(763-765)ttC>ttT	p.F255F	C12orf42_ENST00000378113.2_Silent_p.F322F|C12orf42_ENST00000548883.1_Silent_p.F322F|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	322										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTTGGAGGGGAAATGGGTGG	0.622000													4	87					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698446	40698446	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40698446C>G	ENST00000253055.3	+	1	796	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	170	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCCCACACCTCTGCCTAGT	0.647000													34	63					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577341	92577341	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92577341G>A	ENST00000298047.6	+	18	10825	c.10808G>A	c.(10807-10809)gGg>gAg	p.G3603E	FAT3_ENST00000409404.2_Missense_Mutation_p.G3603E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3453E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3603	Cadherin 33.				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)				AGTCACGATGGGAAAATCATC	0.478000										TCGA Ovarian(4;0.039)			5	320					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240014	160240014	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160240014C>T	ENST00000275275.5	+	17	1432	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	PNLDC1_ENST00000392167.3_Missense_Mutation_p.P432S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	421						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATCCGACCTCCCATCCTCAT	0.463000													45	99					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944829	4944829	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4944829G>A	ENST00000321961.2	-	1	808	c.741C>T	c.(739-741)atC>atT	p.I247I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	247					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)		GTACAGCACAGATATGAGAGA	0.532000													4	73					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533679	88533679	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:88533679G>A	ENST00000399271.1	+	4	461	c.341G>A	c.(340-342)gGa>gAa	p.G114E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G114E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	114					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.G114E(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGGGACACAGGAAAAGCAGAA	0.433000													5	48					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948939	7948939	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7948939C>T	ENST00000380183.4	+	8	1274	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	ALOX15B_ENST00000572022.1_Silent_p.L379L|ALOX15B_ENST00000380173.2_Silent_p.L379L|ALOX15B_ENST00000573359.1_Silent_p.L379L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	379	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.L379M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCACTCACATCTGCTGCCTGA	0.622000													28	52					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183011832	183011832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:183011832C>T	ENST00000435564.1	-	14	1812	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	PDE1A_ENST00000346717.4_Missense_Mutation_p.E504K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E538K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E522K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E434K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCATGTTTTTCTTCAGCATTT	0.308000													27	48					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56638901	56638901	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56638901G>A	ENST00000389934.3	-	30	4374	c.4257C>T	c.(4255-4257)gaC>gaT	p.D1419D	TEX14_ENST00000349033.5_Silent_p.D1379D|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000240361.8_Silent_p.D1425D	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1425						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTGGGAAGGTCTTGTAGCT	0.478000													24	327					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139935137	139935137	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139935137G>A	ENST00000371600.3	-	4	1515	c.843C>T	c.(841-843)tcC>tcT	p.S281S	NPDC1_ENST00000371601.4_Silent_p.S203S			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	203						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACCAGCAGAGGGAGGCTACGG	0.706000													3	6					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898069	36898069	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36898069C>T	ENST00000429976.2	-	12	3259	c.3012G>A	c.(3010-3012)gtG>gtA	p.V1004V	TRANK1_ENST00000428977.2_Silent_p.V454V|TRANK1_ENST00000301807.6_Silent_p.V454V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1004					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGGGTACTCCACTGTGGCTG	0.547000													74	165					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934127	44934127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44934127C>T	ENST00000291187.4	-	6	1133	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.D277N	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGTCTGCATCGTCCCTGAAG	0.433000													30	60					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149452923	149452923	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149452923G>A	ENST00000286301.3	-	7	1314	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	341	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGTCAGAAAAGGGTCCCAGGT	0.567000													6	311					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154263931	154263931	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154263931C>T	ENST00000404039.1	+	5	952	c.365C>T	c.(364-366)tCa>tTa	p.S122L	DPP6_ENST00000406326.1_Missense_Mutation_p.S186L|DPP6_ENST00000427557.1_Missense_Mutation_p.S124L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.S186L|DPP6_ENST00000332007.3_Missense_Mutation_p.S124L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	186					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTAGGAATCATTAAGAGCC	0.303000													5	43					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834521	61834521	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61834521C>T	ENST00000280772.1	-	37	6309	c.6118G>A	c.(6118-6120)Gat>Aat	p.D2040N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2040					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						CTCCCAATATCATTTGTTAGG	0.398000													64	127					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168260616	168260616	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:168260616C>T	ENST00000367821.3	+	2	473	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	141					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCTCCCATCTCCTTCAGCAAA	0.627000													99	227					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:114141243C>T	ENST00000371950.3	+	6	1271	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	HTR2C_ENST00000276198.1_Silent_p.F214F|HTR2C_ENST00000371951.1_Silent_p.F214F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000													178	71					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186269	101186269	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:101186269C>T	ENST00000294728.2	+	2	403	c.302C>T	c.(301-303)tCt>tTt	p.S101F	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.S101F|VCAM1_ENST00000347652.2_Missense_Mutation_p.S101F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	101	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACTTGTGAATCTAGGAAATTG	0.378000													45	55					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553831	150553831	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150553831G>A	ENST00000493429.1	+	4	857	c.273G>A	c.(271-273)agG>agA	p.R91R	AOC1_ENST00000467291.1_Silent_p.R91R|AOC1_ENST00000416793.2_Silent_p.R91R|AOC1_ENST00000360937.4_Silent_p.R91R					amine oxidase, copper containing 1																		AAGGTGAAAGGCATCCTGTGC	0.567000													66	222					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088560	31088560	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31088560C>T	ENST00000394979.2	+	1	1338	c.915C>T	c.(913-915)ctC>ctT	p.L305L	ZNF646_ENST00000300850.5_Silent_p.L305L			O15015	ZN646_HUMAN	zinc finger protein 646	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTTCCGGCTCCCCCGGGAGC	0.602000													5	81					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481027	140481027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140481027C>T	ENST00000231130.2	+	1	794	c.794C>T	c.(793-795)tCg>tTg	p.S265L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACTGTCTCGGCTTCTGAC	0.393000													50	104					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51060597	51060597	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:51060597G>A	ENST00000441560.2	+	6	1037	c.556G>A	c.(556-558)Gat>Aat	p.D186N	ATL1_ENST00000354525.4_Missense_Mutation_p.D186N|ATL1_ENST00000358385.6_Missense_Mutation_p.D186N|ATL1_ENST00000357032.3_Missense_Mutation_p.D186N	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	186					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCAGGAGGATGATCTTCAGCA	0.323000													23	52					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515123	47515123	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47515123G>A	ENST00000371901.3	+	11	1552	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	CYP4X1_ENST00000538609.1_Silent_p.E433E	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	434						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCTCAGGAGAATTCTGATC	0.453000													29	92					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38976830	38976830	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38976830G>A	ENST00000269576.5	-	3	809	c.800C>T	c.(799-801)gCt>gTt	p.A267V	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	267	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CTCCAGGTCAGCCTTGGTCAG	0.522000													58	130					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	832030	832030	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:832030G>A	ENST00000293892.3	-	2	92	c.93C>T	c.(91-93)ccC>ccT	p.P31P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGAAGGTGCTGGGGCCAAGGG	0.662000													7	18					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108158742	108158742	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108158742C>T	ENST00000273353.3	-	25	3033	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	993						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACTCTACTTCCTCAGTCAAG	0.478000													35	92					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102074477	102074477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:102074477G>A	ENST00000369138.1	+	3	996	c.506G>A	c.(505-507)tGg>tAg	p.W169*	GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	169					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTTTCAAGTGGAAAACCGTC	0.418000													29	74					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44844587	44844587	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44844587G>A	ENST00000354340.4	-	2	156	c.105C>T	c.(103-105)ttC>ttT	p.F35F	ZNF112_ENST00000337401.4_Silent_p.F41F|CTC-512J12.6_ENST00000588212.1_Silent_p.F40F|ZNF112_ENST00000536500.1_Silent_p.F58F	NM_013380.3	NP_037512.3			zinc finger protein 112																		GCAGGTTCCTGAAGTTCTCCA	0.512000													5	213					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020004	9020004	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9020004C>T	ENST00000397910.4	-	21	37694	c.37491G>A	c.(37489-37491)agG>agA	p.R12497R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12499	SEA 3.				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						AGAGACTGTTCCTGTCCAGGG	0.517000													131	255					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341707	121341707	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121341707C>T	ENST00000338040.4	+	3	1845	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	477					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCTTCACTTTCACTTGCAACA	0.532000													22	37					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136550357	136550357	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136550357G>A	ENST00000371872.4	-	17	2378	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	SARDH_ENST00000371868.1_Silent_p.F135F|SARDH_ENST00000439388.1_Silent_p.F707F|SARDH_ENST00000422262.2_Silent_p.F539F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	707					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGAGAACGGGAAGGCCTCGT	0.632000													18	47					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047580	3047580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3047580C>T	ENST00000602557.1	-	35	5810	c.5255G>A	c.(5254-5256)aGg>aAg	p.R1752K	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1752K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1752K|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1752K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1752	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCAATTCTCCTTCCGTATCT	0.562000													5	8					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184801	118184801	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:118184801C>T	ENST00000427715.2	+	11	1278	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	SLC30A8_ENST00000456015.2_Missense_Mutation_p.R331W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R282W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R282W	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	331					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCAAGTGGTTCGGAGAGAAAT	0.507000													64	120					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135858	55135858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55135858C>T	ENST00000314706.3	+	1	499	c.499C>T	c.(499-501)Cga>Tga	p.R167*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167R(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CATGAATCGTCGAGTCTGTGT	0.438000													105	235					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45051114	45051114	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:45051114C>T	ENST00000398000.2	-	2	454	c.380G>A	c.(379-381)aGg>aAg	p.R127K	CXorf36_ENST00000477281.1_5'UTR|RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R127K	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	127						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ACAGATTCTCCTGTCTGAGAT	0.493000													49	25					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51899696	51899696	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:51899696G>A	ENST00000453097.2	+	24	3468	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1084					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATGAATTCTGGAAATGCAAAG	0.338000													6	15					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206881	58206881	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58206881G>A	ENST00000302572.2	-	1	765	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I248I(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCATAAAAGATGGAAACTG	0.433000													35	47					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106873862	106873862	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:106873862G>A	ENST00000286398.7	+	10	1309	c.1020_splice	c.e10-1	p.D341_splice	SMC2_ENST00000374793.3_Splice_Site_p.D341_splice|SMC2_ENST00000374787.3_Splice_Site_p.D341_splice|SMC2_ENST00000303219.8_Splice_Site_p.D341_splice	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	341					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTTCCTAAAGGACTCAAAAAC	0.348000													20	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494623	228494623	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228494623G>A	ENST00000570156.2	+	56	14893	c.14819G>A	c.(14818-14820)cGa>cAa	p.R4940Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3983Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1617Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3983Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1102Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3983	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4565Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGTTCCTCCGAGAGCTGCAG	0.652000													8	7					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749434	7749434	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7749434C>T	ENST00000254846.5	+	6	664	c.275C>T	c.(274-276)tCc>tTc	p.S92F	KDM6B_ENST00000448097.2_Missense_Mutation_p.S92F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	92					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AAGCTGGAATCCCTGCATGGC	0.622000													13	41					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162917558	162917558	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:162917558G>A	ENST00000416990.2	+	17	2277	c.1780_splice	c.e17+1	p.G594_splice	HMMR_ENST00000353866.3_Splice_Site_p.G693_splice|HMMR_ENST00000432118.2_Splice_Site_p.G622_splice|HMMR_ENST00000393915.4_Splice_Site_p.G709_splice|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Splice_Site_p.G708_splice			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	708						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATTAAAAGAAGGTAAGACATG	0.318000													39	107					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96185815	96185815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:96185815C>T	ENST00000324765.8	+	10	1409	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	DIAPH2_ENST00000373049.4_Silent_p.L354L|DIAPH2_ENST00000373061.3_Silent_p.L354L|DIAPH2_ENST00000373054.4_Silent_p.L350L|DIAPH2_ENST00000355827.4_Silent_p.L354L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	354	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATGAATTCCTCCGTTCAGGAC	0.333000													23	12					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913431	54913431	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:54913431C>T	ENST00000474759.1	+	20	1885	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P519S|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P613S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P613S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	613						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAAGGGTACTCCTTTCAGGTA	0.383000													12	25					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177042	71177042	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:71177042G>A	ENST00000333538.5	+	11	2342	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	570	Ricin B-type lectin.					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)				ACGCTGCCTGGAGGTGGAGAA	0.587000													79	137					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55705805	55705805	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:55705805G>A	ENST00000567238.1	+	1	223	c.47G>A	c.(46-48)gGg>gAg	p.G16E	SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000566163.1_Intron	NM_001172502.1	NP_001165973.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	0					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTGGCTGTGGGGCTGGGCCTG	0.597000													12	12					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80038731	80038731	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80038731G>A	ENST00000306749.2	-	39	6881	c.6663C>T	c.(6661-6663)tcC>tcT	p.S2221S	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2221	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCACCAGCAGGGAGCGCAGGT	0.662000													7	43					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350396	65350396	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65350396C>T	ENST00000309295.4	+	9	2518	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	751	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTGGTAGCCCAGGAGATAG	0.498000													15	52					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488163	37488163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37488163C>T	ENST00000455427.2	+	9	1707	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCTTATTCGACATCAGAG	0.453000													8	25					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81706268	81706268	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:81706268G>A	ENST00000372292.3	-	2	188	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	50	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CGTCCATCGCGACCAGGCAGG	0.617000													40	61					0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134367080	134367080	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:134367080G>A	ENST00000265340.7	-	2	704	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PITX1_ENST00000506438.1_Silent_p.F96F	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	96						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCTGGCTTGTGAAGTGCGTAC	0.642000													30	61					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717889	72717889	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72717889G>A	ENST00000428206.1	-	8	978	c.965C>T	c.(964-966)tCc>tTc	p.S322F	NSUN5_ENST00000438747.2_Missense_Mutation_p.S360F|NSUN5_ENST00000310326.8_Missense_Mutation_p.S360F|NSUN5_ENST00000252594.6_Missense_Mutation_p.S360F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	360							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCAGAGGGAGCACGTGGA	0.677000													19	51					0	0	1	0	0
SFTA3	253970	broad.mit.edu	37	14	36960481	36960481	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:36960481C>T	ENST00000518529.2	-	2	733	c.58G>A	c.(58-60)Gat>Aat	p.D20N	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_5'UTR	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	20										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						TGTGCCTGATCCTGAAGAAAA	0.388000													7	7					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789352	164789352	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:164789352C>T	ENST00000420696.2	+	7	1229	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.F347F|PBX1_ENST00000540246.1_Silent_p.F242F|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Silent_p.F242F	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	347					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GAGATTTGTTCATGAGCGTGC	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								75	87					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978630	247978630	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247978630C>T	ENST00000357627.1	-	1	401	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGCTCCTGTCCATGATGACAT	0.512000													63	186					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28898242	28898242	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28898242G>A	ENST00000257192.4	+	0	191					NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1						calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTGGTCTTGGATGTAAGAGA	0.388000													40	84					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149676	193149676	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:193149676C>T	ENST00000367434.4	-	2	1772	c.1017G>A	c.(1015-1017)ttG>ttA	p.L339L	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	339					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						ATACATCTTCCAAGTGCAAAC	0.418000													48	60					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039148	11039148	+	RNA	SNP	C	C	T	rs71292113		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11039148C>T	ENST00000470054.1	-	0	1055									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAGTGCTTTCCTCATGTGGG	0.403000													27	571					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230572	56230572	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56230572G>A	ENST00000279791.1	-	1	305	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAACGGCAATGAAAAAGTAGC	0.468000													48	91					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468635	26468635	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26468635C>T	ENST00000312541.5	+	8	1690	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S420F|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	481	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCAGCCTTTTCCGTGCCTGTG	0.572000													58	187					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712513	247712513	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247712513G>A	ENST00000366491.2	+	4	517	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	GCSAML_ENST00000366488.4_Missense_Mutation_p.R7Q|GCSAML_ENST00000536561.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.E128K|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		TATCTCCTGCGAAAACTCAGG	0.463000													26	83					0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056332	151056332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151056332G>A	ENST00000302632.3	-	3	601	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	101					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAATATGACGGAGGTAACTTG	0.383000													29	97					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913674	52913674	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52913674G>A	ENST00000252242.4	-	1	797	c.407C>T	c.(406-408)cCt>cTt	p.P136L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	136	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCTCCAGGAGGGCAGACAGG	0.617000													42	75					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321180	90321180	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90321180C>T	ENST00000469640.2	+	27	3644	c.3269C>T	c.(3268-3270)aCc>aTc	p.T1090I	DAPK1_ENST00000358077.5_Missense_Mutation_p.T1065I|DAPK1_ENST00000491893.1_Missense_Mutation_p.T999I|DAPK1_ENST00000408954.3_Missense_Mutation_p.T1065I|DAPK1_ENST00000472284.1_Missense_Mutation_p.T1065I			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1065					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCCGCTACACCGTGGAGGAC	0.682000									Chronic Lymphocytic Leukemia, Familial Clustering of				7	37					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836945	82836945	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82836945G>A	ENST00000265077.3	+	8	8688	c.8123G>A	c.(8122-8124)gGa>gAa	p.G2708E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G1721E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2708	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGATTGAAGGAATAAAAGCT	0.428000													46	87					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11520792	11520792	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11520792G>A	ENST00000262442.3	+	5	1037	c.969G>A	c.(967-969)ctG>ctA	p.L323L	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L323L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	323	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAAGCTCTGGAGAATGCAG	0.587000													23	52					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125366414	125366414	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125366414G>A	ENST00000521654.2	+	2	940	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.E79K|RNF217_ENST00000359704.2_Missense_Mutation_p.E22K|RNF217_ENST00000454842.2_3'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	22					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TGAATTCTTGGAAGAAACAAC	0.423000													32	91					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100553	89100553	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89100553C>T	ENST00000393525.3	+	0	1089																											tgtatcttttcctGCTGTCTC	0.343000													4	33					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27269960	27269960	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:27269960C>T	ENST00000358918.3	-	15	2134	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	APP_ENST00000357903.3_Silent_p.T644T|APP_ENST00000348990.5_Silent_p.T588T|APP_ENST00000439274.2_Silent_p.T607T|APP_ENST00000448388.2_Silent_p.T553T|APP_ENST00000354192.3_Silent_p.T532T|APP_ENST00000359726.3_Silent_p.T607T|APP_ENST00000440126.3_Silent_p.T639T|APP_ENST00000346798.3_Silent_p.T663T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	663					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGATCTCCTCCGTCTTGATAT	0.338000													37	126					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346374	116346374	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116346374G>A	ENST00000374140.2	+	21	2891	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	RGS3_ENST00000462143.1_Silent_p.G215G|RGS3_ENST00000343817.5_Silent_p.G613G|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.G215G|RGS3_ENST00000350696.5_Silent_p.G894G|RGS3_ENST00000394646.3_Intron	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	894					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						gggaggaaggggaggaggacg	0.642000													28	62					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143328	154143328	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154143328G>A	ENST00000404039.1	+	2	668	c.81G>A	c.(79-81)agG>agA	p.R27R	DPP6_ENST00000406326.1_Silent_p.R91R|DPP6_ENST00000427557.1_Silent_p.R29R|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.R91R|DPP6_ENST00000332007.3_Silent_p.R29R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	91					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCGCAGAGGAATTGGAAAG	0.428000													24	107					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66062204	66062204	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:66062204C>T	ENST00000349533.6	+	7	962	c.777C>T	c.(775-777)agC>agT	p.S259S	LEPR_ENST00000344610.8_Silent_p.S259S|LEPR_ENST00000371060.3_Silent_p.S259S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Silent_p.S259S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Silent_p.S259S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	259	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTGGTCCAGCCCACCATTGG	0.328000													30	42					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270001	1270001	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1270001C>T	ENST00000348261.5	+	35	6317	c.6069C>T	c.(6067-6069)tcC>tcT	p.S2023S	CACNA1H_ENST00000565831.1_Silent_p.S2017S|CACNA1H_ENST00000358590.4_Silent_p.S2017S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2023					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACACCGATTCCTTGGAAGGGA	0.657000													3	8					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106522576	106522576	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:106522576G>A	ENST00000359195.3	+	7	2863	c.2553G>A	c.(2551-2553)atG>atA	p.M851I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.M851I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M851I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	851	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TACGAATCATGGAGTCTATTT	0.338000													26	112					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764589	138764589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138764589C>T	ENST00000242351.5	-	4	1414	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	ZC3HAV1_ENST00000471652.1_Silent_p.T366T|ZC3HAV1_ENST00000464606.1_Silent_p.T366T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	366					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTTGGTCATTCGTCCAGGATG	0.547000													61	212					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105179178	105179178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105179178C>T	ENST00000392634.4	+	18	2736	c.2624C>T	c.(2623-2625)gCc>gTc	p.A875V	INF2_ENST00000330634.7_Missense_Mutation_p.A875V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	875	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCATCTCGGCCTTCCGGGCA	0.687000													5	49					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415291	88415291	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:88415291T>G	ENST00000418378.1	-	5	1232	c.661A>C	c.(661-663)Aag>Cag	p.K221Q	SPARCL1_ENST00000503414.1_Missense_Mutation_p.K96Q|SPARCL1_ENST00000282470.6_Missense_Mutation_p.K221Q	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	221					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATTCTGTCTTTCTTTCTTGG	0.423000													42	433					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59009927	59009927	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:59009927C>T	ENST00000263093.2	-	10	2137	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	SLC27A5_ENST00000601355.1_Silent_p.T592T|SLC27A5_ENST00000594786.1_Silent_p.T81T|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	676					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ACATTTCTGCCGTCAGGGGCC	0.602000													10	32					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495305	33495305	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33495305C>T	ENST00000268876.5	+	10	1474	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	UNC45B_ENST00000433649.1_Silent_p.I459I|UNC45B_ENST00000591048.1_Silent_p.I459I|UNC45B_ENST00000378449.1_Silent_p.I459I|UNC45B_ENST00000394570.2_Silent_p.I459I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	459					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCTTCATCATCACCAATGGAG	0.577000													31	75					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974333	128974333	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:128974333G>A	ENST00000522781.1	-	4	882	c.327C>T	c.(325-327)ccC>ccT	p.P109P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P109P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	109										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTAAGGTCGGGCGAGGTCT	0.562000													25	50					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888808	51888808	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:51888808G>T	ENST00000453097.2	+	21	3066	c.2849G>T	c.(2848-2850)cGc>cTc	p.R950L	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R977L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	950					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTGCCGCTGCGCAAAGTGCAC	0.527000													40	95					8.16277e-20	8.24467e-20	1	1	0
MYH7	4625	broad.mit.edu	37	14	23895003	23895003	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23895003G>A	ENST00000355349.3	-	20	2349	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	729	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCAGGGATGGCCGCTGGGT	0.557000													32	76					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85472431	85472431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:85472431G>A	ENST00000369663.5	-	2	665	c.328C>T	c.(328-330)Cct>Tct	p.P110S	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	110					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GACGCCAGAGGGGAAGCTCCC	0.706000													11	23					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833512	43833512	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:43833512A>T	ENST00000389420.3	-	18	2505	c.2506T>A	c.(2506-2508)Tcc>Acc	p.S836T	ADAMTS20_ENST00000395541.2_5'UTR|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S836T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	836	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATTGAAGGAATAATGTACA	0.373000													30	45					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139171993	139171993	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:139171993C>T	ENST00000232217.2	-	4	426	c.370G>A	c.(370-372)Gac>Aac	p.D124N	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	124					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CACACCTGGTCACCACAGGTC	0.582000													24	58					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207752	140207752	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140207752G>A	ENST00000529310.1	+	1	190	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V26M|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGAAGGTGGGGAGCGG	0.607000													76	104					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38957016	38957016	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38957016C>T	ENST00000355481.4	+	24	3287	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	RYR1_ENST00000360985.3_Silent_p.I1052I|RYR1_ENST00000359596.3_Silent_p.I1052I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1052	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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	p.I1052I(1)		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)	GCTACAACATCGAGCCTCCTG	0.667000													3	5					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90398438	90398438	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:90398438G>A	ENST00000369393.3	-	66	11228	c.11113C>T	c.(11113-11115)Ctg>Ttg	p.L3705L	MDN1_ENST00000428876.1_Silent_p.L3705L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3705					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCACCATCAGGTCTGAGGGT	0.512000													20	51					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28830465	28830465	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28830465C>T	ENST00000399613.1	+	6	500	c.437C>T	c.(436-438)tCc>tTc	p.S146F	PAN3_ENST00000380958.3_Missense_Mutation_p.S346F|PAN3_ENST00000282391.5_Missense_Mutation_p.S34F|PAN3_ENST00000483842.1_3'UTR			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	346	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CCTCTTCATTCCCCCAAGATT	0.428000													62	164					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467059	110467059	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110467059G>A	ENST00000378402.5	+	45	6956	c.6852G>A	c.(6850-6852)cgG>cgA	p.R2284R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2284	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGGCTGTGCGGGAGGGAATCC	0.522000										HNSCC(38;0.096)			39	48					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848507	23848507	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23848507G>A	ENST00000359320.3	+	4	816		c.e4-1		CMTM5_ENST00000555731.1_Splice_Site|CMTM5_ENST00000397227.3_Splice_Site|CMTM5_ENST00000339180.4_Splice_Site|CMTM5_ENST00000342473.4_Splice_Site|CMTM5_ENST00000382809.2_Splice_Site	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5						chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CACTCCCACAGGTTTTTGGCA	0.562000													64	90					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51377986	51377986	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51377986C>T	ENST00000325321.3	+	2	281	c.56C>T	c.(55-57)cCc>cTc	p.P19L	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.P19L|KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	19					proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGTGCCGTGCCCCTCATCCAG	0.607000			T	ETV4	prostate								35	57					0	0	1	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162089	23162089	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23162089C>T	ENST00000390316.2	+	0	297																											CCAGGCCAGGCCCCTGTGCTG	0.582000													37	71					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648398	74648398	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:74648398G>A	ENST00000354431.4	-	3	588	c.397C>T	c.(397-399)Cca>Tca	p.P133S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P133S|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.P133S|LRRIQ3_ENST00000370909.2_Intron	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	133	LRRCT.									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						AGGCTTACTGGACAATCAAAC	0.358000													4	92					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189203	124189203	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124189203C>T	ENST00000357438.2	-	1	981	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTGCATTTTTCACATCCTTGT	0.403000													42	56					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	187003692	187003692	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:187003692G>A	ENST00000337774.5	-	2	547	c.158C>T	c.(157-159)cCa>cTa	p.P53L	MASP1_ENST00000296280.6_Missense_Mutation_p.P53L|MASP1_ENST00000392470.2_Missense_Mutation_p.P27L|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.P53L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	53	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAACCCATCTGGGACAGTGAT	0.468000													14	149					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166732	100166732	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100166732C>T	ENST00000547776.2	-	8	1095	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E366K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	366						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCAAGTTCTTCCTCTGAAATC	0.398000													24	56					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19511732	19511732	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:19511732G>A	ENST00000375267.2	-	15	1802	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F	UBR4_ENST00000375226.2_Missense_Mutation_p.S600F|UBR4_ENST00000375254.3_Missense_Mutation_p.S600F|UBR4_ENST00000375217.2_Missense_Mutation_p.S600F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	600					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTACTGGGAGAAATAGTCTC	0.458000													61	159					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591184	86591184	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:86591184G>A	ENST00000370571.2	-	3	1201	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	COL24A1_ENST00000436319.1_Silent_p.L279L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	279					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTCTGACAGTACTTTTTCA	0.378000													44	104					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641405	99641405	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:99641405C>G	ENST00000345514.2	-	3	1821	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	BCL11B_ENST00000443726.2_Missense_Mutation_p.E396Q|BCL11B_ENST00000357195.3_Missense_Mutation_p.E590Q	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	590						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGCGCCTTCTCGTCAGCCAGC	0.726000			T	TLX3	T-ALL								13	61					0	0	1	0	0
FOXP3	50943	broad.mit.edu	37	X	49113902	49113902	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:49113902G>A	ENST00000376207.4	-	4	623	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	FOXP3_ENST00000518685.1_Missense_Mutation_p.R111W|FOXP3_ENST00000376199.2_Missense_Mutation_p.R111W|FOXP3_ENST00000455775.2_Missense_Mutation_p.R146W|FOXP3_ENST00000376197.1_Missense_Mutation_p.R96W|FOXP3_ENST00000557224.1_Missense_Mutation_p.R111W	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	146					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AGGCCAGGCCGGGCCTTGAGG	0.647000													19	10					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678355	100678355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100678355C>T	ENST00000306151.4	+	3	3722	c.3658C>T	c.(3658-3660)Cca>Tca	p.P1220S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1220	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)					AAGAAGCACTCCATTAACAAG	0.522000													7	948					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429741	29429741	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29429741C>T	ENST00000377136.1	+	4	660	c.195C>T	c.(193-195)tcC>tcT	p.S65S	OR2H1_ENST00000396792.2_Silent_p.S65S|OR2H1_ENST00000377133.1_Silent_p.S65S|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377132.1_Silent_p.S65S|OR2H1_ENST00000442615.1_Silent_p.S65S			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CTGACCTCTCCTTCTTGGACC	0.542000													8	160					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689617	42689617	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42689617C>T	ENST00000230381.5	-	1	695	c.456G>A	c.(454-456)atG>atA	p.M152I		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	152					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGGTCTTCTTCATGAAACACC	0.547000													8	194					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964217	88964217	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88964217C>T	ENST00000333190.4	+	4	2530	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	641						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAATTGATTCCCTGCAGTCC	0.428000										HNSCC(36;0.09)			25	102					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206641085	206641085	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:206641085C>T	ENST00000357118.4	+	16	2572	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.S852S|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCTGGTCTCCGTCGCGCTGG	0.642000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	100					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101477209	101477209	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:101477209G>A	ENST00000341893.3	+	9	2511	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	CEP97_ENST00000494050.1_Missense_Mutation_p.E528K|CEP97_ENST00000327230.4_Missense_Mutation_p.E587K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	587	CEP110 binding.|IQ.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTGCGTTACGAAATCCGGCT	0.463000													4	121					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036538	60036538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:60036538C>T	ENST00000586569.1	+	9	1426	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	463					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTCGTGGGTTCCCCAAAACGT	0.662000													4	114					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713045	32713045	+	Silent	SNP	G	G	A	rs148839152		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32713045G>A	ENST00000374940.3	+	2	294	c.192G>A	c.(190-192)acG>acA	p.T64T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	64	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTGGAGACGAAAGAGACTG	0.473000													48	177					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167817707	167817707	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167817707C>T	ENST00000367848.1	-	19	2550	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E777K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.E624K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	777					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						TTTAACTTCTCTGTTAGCTTA	0.393000													45	129					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18933790	18933790	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:18933790A>T	ENST00000284878.7	+	6	1577	c.829A>T	c.(829-831)Atc>Ttc	p.I277F	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.I277F|CXADR_ENST00000306618.10_Missense_Mutation_p.I236F	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCATCACGATATCAGGTAATT	0.363000													15	36					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719844	160719844	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160719844A>T	ENST00000368043.3	+	3	647	c.610A>T	c.(610-612)Aac>Tac	p.N204Y	SLAMF7_ENST00000368042.3_Missense_Mutation_p.N97Y|SLAMF7_ENST00000458104.2_Missense_Mutation_p.N97Y|SLAMF7_ENST00000359331.4_Missense_Mutation_p.N204Y|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.N97Y|SLAMF7_ENST00000441662.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	204	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGTCAGCAGAAACTTCTCAAG	0.552000													65	170					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114168182	114168182	+	Nonsense_Mutation	SNP	G	G	A	rs151027490		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:114168182G>A	ENST00000393081.1	+	6	742	c.435G>A	c.(433-435)tgG>tgA	p.W145*	ACSL5_ENST00000354273.4_Nonsense_Mutation_p.W145*|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000354655.4_Nonsense_Mutation_p.W145*|ACSL5_ENST00000356116.1_Nonsense_Mutation_p.W201*|ACSL5_ENST00000433418.1_Nonsense_Mutation_p.W145*|RP11-324O2.3_ENST00000449782.2_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	145					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTGTACAGTGGATCATCTCCG	0.448000													4	122					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307042	120307042	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120307042G>A	ENST00000369406.3	-	2	361	c.312C>T	c.(310-312)tcC>tcT	p.S104S	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.S104S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	104					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGGCACAGGGAGTTGATGT	0.547000													49	131					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641759	179641759	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179641759C>T	ENST00000589042.1	-	28	5056	c.4832G>A	c.(4831-4833)gGa>gAa	p.G1611E	TTN_ENST00000359218.5_Missense_Mutation_p.G1565E|TTN_ENST00000591111.1_Missense_Mutation_p.G1611E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G1611E|TTN_ENST00000460472.2_Missense_Mutation_p.G1565E|TTN_ENST00000342175.6_Missense_Mutation_p.G1565E|TTN_ENST00000360870.5_Missense_Mutation_p.G1611E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1345	Ig-like 7.						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)			GGCAGCTTCTCCCTTGGTTCC	0.403000													27	58					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98405419	98405419	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98405419C>T	ENST00000339364.5	-	8	1305	c.1185_splice	c.e8-1	p.E396_splice	PIK3AP1_ENST00000371110.2_Splice_Site_p.E218_splice|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	396						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCACCGTTTCCTGAAAGAGA	0.572000													36	84					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070852	50070852	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50070852G>A	ENST00000046087.2	-	5	611	c.542C>T	c.(541-543)cCc>cTc	p.P181L	ZPBP_ENST00000419417.1_Missense_Mutation_p.P180L|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	181					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCTATTGCAGGGAGCTGCATG	0.313000													16	59					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122848602	122848602	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122848602G>A	ENST00000358808.2	-	4	864	c.710C>T	c.(709-711)gCc>gTc	p.A237V	CLIP1_ENST00000537178.1_Missense_Mutation_p.A237V|CLIP1_ENST00000540338.1_Missense_Mutation_p.A237V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A237V|CLIP1_ENST00000361654.4_Missense_Mutation_p.A237V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	237	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCCCCCTTGGCAAAGTCGGT	0.493000													5	78					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348586	140348586	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140348586C>T	ENST00000289269.5	+	1	2767	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		745					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)			GTGGAGGCTTCTGTGGAGTAA	0.458000													36	88					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41004483	41004483	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41004483C>T	ENST00000399564.4	-	37	4609	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E942K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.E1387*(1)|p.E1387K(1)									AGCACTATTTCCTTGAAGTAG	0.458000													66	195					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465556	51465556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:51465556C>T	ENST00000374095.5	-	7	1025	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	300	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAATATACTTCATATAATCAC	0.428000													44	92					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97766670	97766670	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97766670C>T	ENST00000297293.5	+	2	440	c.147C>T	c.(145-147)atC>atT	p.I49I	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	49					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTTTTGTGATCCTGTGTGTGT	0.373000													36	113					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43172776	43172776	+	Missense_Mutation	SNP	C	C	T	rs139277408		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43172776C>T	ENST00000252050.4	+	23	4639	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1519					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTTTGGGCCTCGGGCAGCCTT	0.602000													62	164					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748645	151748645	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151748645C>T	ENST00000368822.1	-	8	1777	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	TDRKH_ENST00000440583.2_Missense_Mutation_p.G158R|TDRKH_ENST00000368825.3_Missense_Mutation_p.G337R|TDRKH_ENST00000368827.6_Missense_Mutation_p.G382R|TDRKH_ENST00000368824.3_Missense_Mutation_p.G382R|TDRKH_ENST00000368823.1_Missense_Mutation_p.G378R|TDRKH_ENST00000458431.2_Missense_Mutation_p.G382R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	382	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAGTTCCCATTCTCCAAG	0.512000													38	102					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517405	176517405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176517405C>T	ENST00000292408.4	+	3	351	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	FGFR4_ENST00000393637.1_Missense_Mutation_p.P36S|FGFR4_ENST00000502906.1_Missense_Mutation_p.P36S|FGFR4_ENST00000292410.3_Missense_Mutation_p.P36S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P36S|FGFR4_ENST00000507708.1_3'UTR	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	36	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGCCTGGCTCCCAGCCTGGA	0.647000										TSP Lung(9;0.080)			4	68					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872376	213872376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:213872376C>T	ENST00000457361.1	-	8	1457	c.1289G>A	c.(1288-1290)aGg>aAg	p.R430K	IKZF2_ENST00000374327.4_Missense_Mutation_p.R285K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R430K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R436K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.R356K|IKZF2_ENST00000451136.2_Missense_Mutation_p.R358K|IKZF2_ENST00000374319.4_Missense_Mutation_p.R404K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCTTTGTTTCCTCTTGGGATT	0.502000													21	281					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33479996	33479996	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33479996G>A	ENST00000268876.5	+	5	563	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	UNC45B_ENST00000433649.1_Missense_Mutation_p.E156K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E156K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E156K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E156K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	156					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATAAGCGGGAAAAGGTGAG	0.572000													46	88					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231101867	231101867	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231101867C>T	ENST00000392045.3	+	2	243	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Silent_p.F43F|SP140_ENST00000350136.5_Silent_p.F23F|SP140_ENST00000373645.3_Silent_p.F43F|SP140_ENST00000420434.3_Silent_p.F43F|SP140_ENST00000486687.2_Silent_p.F43F|SP140_ENST00000417495.3_Silent_p.F43F	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	43	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGCCCATTTTCAGGTTCTTCA	0.493000													24	36					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61956380	61956380	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61956380C>T	ENST00000280772.1	-	15	1884	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	ANK3_ENST00000503366.1_Missense_Mutation_p.G548R|ANK3_ENST00000373827.2_Missense_Mutation_p.G559R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	565					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						GGAGTAAATCCTTTCTGaaaa	0.353000													16	34					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766506	110766506	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110766506C>T	ENST00000369787.3	+	2	1626	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.I533I|KCNC4_ENST00000438661.2_Silent_p.I533I	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	533					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I533I(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGGTATGATCGAGAGGAAAC	0.577000													36	62					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402600	20402600	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:20402600G>A	ENST00000381150.1	-	6	1250	c.860C>T	c.(859-861)tCc>tTc	p.S287F	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.S287F|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	287					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.S287>?(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCCTCCAAGGAGTAGCTGCC	0.612000													118	234					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509164	149509164	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149509164C>T	ENST00000378016.2	+	0	9710							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTCAGGCCCCGAGGCTGAA	0.692000													25	116					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716560	13716560	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13716560C>T	ENST00000279593.3	-	13	3821	c.3612G>A	c.(3610-3612)gtG>gtA	p.V1204V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1204					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	CCTCCCACTCCACGTTGGTCA	0.637000													48	110					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38486043	38486043	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38486043G>A	ENST00000263409.4	-	17	2537	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	LIFR_ENST00000453190.2_Missense_Mutation_p.S792F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	792	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTCTTCTGGGATATGTCAGT	0.403000			T	PLAG1	salivary adenoma								25	114					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30764597	30764597	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30764597C>T	ENST00000563588.1	+	5	610	c.371C>T	c.(370-372)gCc>gTc	p.A124V	PHKG2_ENST00000424889.3_Missense_Mutation_p.A124V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A124V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	124	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GAGAAGGTGGCCCTCTCTGAA	0.602000													18	40					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50387259	50387259	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50387259G>A	ENST00000232501.3	-	3	614	c.176C>T	c.(175-177)gCt>gTt	p.A59V		NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	59	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CTTTTCCATAGCTGTGCTGGA	0.577000													49	115					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31497159	31497159	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:31497159C>T	ENST00000357033.4	-	58	8815	c.8609G>A	c.(8608-8610)cGa>cAa	p.R2870Q	DMD_ENST00000474231.1_Missense_Mutation_p.R410Q|DMD_ENST00000343523.2_Missense_Mutation_p.R410Q|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.R410Q|DMD_ENST00000378677.2_Missense_Mutation_p.R2866Q|DMD_ENST00000359836.1_Missense_Mutation_p.R410Q|DMD_ENST00000378707.3_Missense_Mutation_p.R410Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2870					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGAAATATTCGTACAGTCTC	0.388000													19	18					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625026	31625026	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31625026G>A	ENST00000375916.3	+	3	790	c.294G>A	c.(292-294)cgG>cgA	p.R98R	APOM_ENST00000375918.2_Silent_p.R26R|APOM_ENST00000375920.4_Silent_p.R26R	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	98					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GTGTGCCCCGGAAATGGATCT	0.512000													7	130					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440202	135440202	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135440202G>A	ENST00000443774.1	-	1	94	c.45C>T	c.(43-45)atC>atT	p.I15I	FRG2B_ENST00000425520.1_Silent_p.I15I			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	15						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGAGCACTGGATGGAGGAGC	0.507000													5	344					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457368	107457368	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107457368A>C	ENST00000318763.5	+	1	709	c.666A>C	c.(664-666)tcA>tcC	p.S222S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTGTTTGTTCAGATATCACCA	0.338000													12	191					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61482532	61482532	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61482532C>T	ENST00000424789.2	+	18	3163	c.3159C>T	c.(3157-3159)ctC>ctT	p.L1053L	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1053L|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1053							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCGTTTGCTCTTGGAACAAG	0.607000													6	34					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799733	159799733	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159799733C>T	ENST00000289707.5	+	2	267	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	40						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCAGCGCGTCCCCCTGGCTT	0.597000													13	388					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135572467	135572467	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135572467A>T	ENST00000370648.3	+	2	838	c.610A>T	c.(610-612)Acc>Tcc	p.T204S		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	204					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGAATCATGTACCTCTTATCC	0.358000													32	16					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540621	133540621	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133540621G>A	ENST00000409261.1	-	14	4136	c.3763C>T	c.(3763-3765)Ctt>Ttt	p.L1255F	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1255F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1255							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAGGAAAGGGATCTTCTC	0.517000													4	155					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65827381	65827381	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65827381C>T	ENST00000528302.1	+	12	1533	c.1479C>T	c.(1477-1479)taC>taT	p.Y493Y	SF3B2_ENST00000322535.6_Silent_p.Y510Y			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	510					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.Y510Y(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCGCAAATACCTGCAGGGCA	0.582000													41	95					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929978	156929978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156929978G>A	ENST00000257527.4	-	12	1219	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P383S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P114S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P381S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	381	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACACTTTGGGAAAGGGGTGC	0.542000													6	88					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256633	240256633	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240256633C>T	ENST00000319653.9	+	1	1454	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	408					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGCTGTTTCAAGCCCTACC	0.687000													47	78					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253148	238253148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238253148C>T	ENST00000295550.4	-	36	7965	c.7513G>A	c.(7513-7515)Gga>Aga	p.G2505R	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2505	Nonhelical region.|VWFA 11.				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)		ATTAGGAATCCGTTCCTCACA	0.507000													78	134					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458480	12458480	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12458480G>A	ENST00000397026.2	+	8	1414	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	PPARG_ENST00000397010.2_Missense_Mutation_p.G338E|PPARG_ENST00000397012.2_Missense_Mutation_p.G338E|PPARG_ENST00000397015.2_Missense_Mutation_p.G338E|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Missense_Mutation_p.G338E|PPARG_ENST00000287820.6_Missense_Mutation_p.G366E			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	366	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AATAAAGATGGGGTTCTCATA	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						10	56					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768842	140768842	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140768842C>T	ENST00000519479.1	+	1	1391	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCTGGAGCC	0.547000													59	117					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870642	51870642	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:51870642C>T	ENST00000371497.5	+	2	1532	c.645C>T	c.(643-645)ttC>ttT	p.F215F	TSHZ2_ENST00000329613.6_Silent_p.F212F|TSHZ2_ENST00000603338.2_Silent_p.F212F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	215					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAGCAGATTCCGATGCCGAC	0.562000													28	57					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169157447	169157447	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169157447G>A	ENST00000393743.3	-	33	4780	c.4489C>T	c.(4489-4491)Cca>Tca	p.P1497S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1497							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACTTTGGTGGAAAATATCTT	0.313000													21	45					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360563	175360563	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175360563C>T	ENST00000367674.1	-	7	2076	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	TNR_ENST00000263525.2_Silent_p.G456G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	456	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAATCACTCCCCCTTCATTGT	0.463000													16	37					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104067	10104067	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:10104067G>A	ENST00000324907.9	+	6	935	c.799G>A	c.(799-801)Gga>Aga	p.G267R	GRHL1_ENST00000324883.5_Missense_Mutation_p.G78R|GRHL1_ENST00000405379.2_Missense_Mutation_p.G267R	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	267					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACAGAAGCCAGGAGACAGTAC	0.443000													33	67					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185237	127185237	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:127185237C>T	ENST00000371124.3	-	1	1145	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	317						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGTTCCACTTCCTTCATGAGC	0.493000													8	78					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083114	34083114	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34083114C>T	ENST00000373381.4	-	38	6107	c.5931G>A	c.(5929-5931)ccG>ccA	p.P1977P	CSMD2_ENST00000373377.1_Silent_p.P76P|CSMD2_ENST00000373380.1_Silent_p.P850P|CSMD2_ENST00000373388.2_Silent_p.P76P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATATCCCGGCTCACACT	0.582000													12	41					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370734	48370734	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48370734G>A	ENST00000395702.2	+	2	429	c.202G>A	c.(202-204)Gat>Aat	p.D68N	ZNF488_ENST00000494156.1_Intron|ZNF488_ENST00000586537.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	68					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						GGCGGGCCGGGATGTGGGCAG	0.697000													26	47					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	102988353	102988353	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:102988353C>T	ENST00000262457.2	+	4	468	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C	INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.R95C|INVS_ENST00000460636.2_3'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	95					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GGGAAATTATCGTTTCATGAA	0.333000													6	28					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9086993	9086993	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9086993C>T	ENST00000433083.2	+	9	2182	c.2037C>T	c.(2035-2037)ccC>ccT	p.P679P	PHC1_ENST00000536844.1_Silent_p.P330P|PHC1_ENST00000544916.1_Silent_p.P724P|PHC1_ENST00000543824.1_Silent_p.P724P			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	724					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTCAAAACCCCCACAGGCCA	0.537000													7	159					0	0	1	0	0
CLEC11A	6320	broad.mit.edu	37	19	51226863	51226863	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51226863G>A	ENST00000250340.4	+	1	278	c.81G>A	c.(79-81)agG>agA	p.R27R	CLEC11A_ENST00000599973.1_Silent_p.R27R	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	27					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gagcagagagggagtgggagg	0.647000													5	87					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14796384	14796384	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:14796384G>A	ENST00000358984.4	+	18	2077	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	633										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAAGCCTTAGAATTAAAGGA	0.289000													6	12					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100602259	100602259	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:100602259C>T	ENST00000544450.2	+	9	1213	c.930C>T	c.(928-930)tcC>tcT	p.S310S	EVL_ENST00000392920.3_Silent_p.S306S|EVL_ENST00000402714.2_Silent_p.S304S			Q9UI08	EVL_HUMAN	Enah/Vasp-like	304	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTAGTACCTCCCCCTCTCCGG	0.592000													82	164					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253113	124253113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124253113G>A	ENST00000375013.2	-	1	145	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCAAGCCAAGGTTGCCTACC	0.423000													60	69					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645491	45645491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:45645491C>T	ENST00000303230.4	-	2	702	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	215						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAATAATTCATCTTGATCA	0.368000													5	90					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457470	124457470	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124457470G>A	ENST00000329446.4	-	3	818	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	263										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AATGATTTGCGATCATTTCCA	0.393000													102	50					0	0	1	0	0
MYOD1	4654	broad.mit.edu	37	11	17742815	17742815	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:17742815G>A	ENST00000250003.3	+	3	938	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	241					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCAGGCCCGGGAAGAGTGCGG	0.692000													6	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458925	179458925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179458925G>A	ENST00000589042.1	-	297	58419	c.58195C>T	c.(58195-58197)Cga>Tga	p.R19399*	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R10459*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R17758*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R16831*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R10334*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R10526*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17758	Fibronectin type-III 40.						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)			TCACCAACTCGAATCGTGAGC	0.423000													32	48					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985485	61985485	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:61985485C>T	ENST00000409186.1	-	5	4852	c.2747G>A	c.(2746-2748)gGg>gAg	p.G916E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G916E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	889					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATGCTTTTCCCCTTTCCTTAA	0.423000													9	44					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24542870	24542870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24542870G>A	ENST00000397016.2	+	4	642	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.E166K|CPNE6_ENST00000216775.2_Missense_Mutation_p.E111K			O95741	CPNE6_HUMAN	copine VI (neuronal)	111	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGGCTCTACGGAGTGCACCTT	0.567000													19	85					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43527934	43527934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43527934G>A	ENST00000265351.7	-	11	1412	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	401					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTAGTCATGGAAGCACGAAG	0.443000													12	27					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233749968	233749968	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233749968C>T	ENST00000366621.3	+	1	219	c.51C>T	c.(49-51)caC>caT	p.H17H		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	17						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGAGCGGCACCGCTCGGCCT	0.697000													37	39					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107456970	107456970	+	Missense_Mutation	SNP	C	C	T	rs78179625		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107456970C>T	ENST00000318763.5	+	1	311	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CCTCCATACTCCCATGTATTT	0.408000													30	356					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221796	140221796	+	Missense_Mutation	SNP	G	G	A	rs141101675	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140221796G>A	ENST00000531613.1	+	1	890	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R297Q|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1												p.R297Q(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATAGATCGAAATACGGGA	0.403000													44	79					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2487227	2487227	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2487227C>T	ENST00000397066.4	+	5	532	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	148					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCGCACCTTTCATCTGGCTCT	0.617000													12	79					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91077649	91077649	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91077649C>T	ENST00000375859.3	+	4	618	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.L114F	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	114					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCTTGAAGTCCTCCCTGATAG	0.289000													44	85					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													84	120					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743843	81743843	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81743843G>A	ENST00000555447.1	-	6	2224	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	STON2_ENST00000267540.2_Silent_p.F604F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	604	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCCCAGACAGGAAACTCAGGA	0.507000													30	77					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885954	10885954	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10885954G>A	ENST00000254488.2	+	5	745	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	227					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCTTCGCTGGGAGCTGGCCTT	0.592000													31	59					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313831	41313831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41313831G>A	ENST00000377801.3	-	3	928	c.854C>T	c.(853-855)cCa>cTa	p.P285L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.P285L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	285					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCTCTCCTGGCTTCTGCGT	0.428000													4	81					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42352943	42352943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42352943G>A	ENST00000269945.3	+	5	579	c.528G>A	c.(526-528)tgG>tgA	p.W176*	DMRTC2_ENST00000596827.1_Nonsense_Mutation_p.W176*	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	176	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CTGGCCCTTGGGTCCCTGGAC	0.657000													70	137					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529967	169529967	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169529967C>T	ENST00000367796.3	-	4	612	c.411G>A	c.(409-411)aaG>aaA	p.K137K	F5_ENST00000546081.1_5'UTR|F5_ENST00000367797.3_Silent_p.K137K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	137	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGTCGTCCATCTTCTCCGCAG	0.527000													5	165					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621464	171621464	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171621464C>T	ENST00000037502.5	-	1	347	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	96					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGAGGCTCTCCAGGGAGC	0.632000													37	109					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135779199	135779199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135779199G>A	ENST00000298552.3	-	17	2268	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S	TSC1_ENST00000440111.2_Missense_Mutation_p.P683S|TSC1_ENST00000545250.1_Missense_Mutation_p.P632S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	683					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCTGAAGGAGGAGAGCCTGAT	0.488000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				23	66					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011846	176011846	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176011846G>A	ENST00000510636.1	+	19	2838	c.2564G>A	c.(2563-2565)gGg>gAg	p.G855E	CDHR2_ENST00000261944.5_Missense_Mutation_p.G855E|CDHR2_ENST00000506348.1_Missense_Mutation_p.G855E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	855	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCAAGGCCGGGGTCGATGTG	0.607000													41	63					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118533424	118533424	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:118533424G>A	ENST00000359236.5	-	2	551	c.275C>T	c.(274-276)tCg>tTg	p.S92L	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	92	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGCTCAGCGATTCAATGTG	0.572000													38	64					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129371	30129371	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30129371G>A	ENST00000484663.1	-	3	1448	c.315C>T	c.(313-315)tcC>tcT	p.S105S	MAPK3_ENST00000263025.4_Silent_p.S219S|MAPK3_ENST00000395202.1_Silent_p.S219S|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Silent_p.S219S|MAPK3_ENST00000403394.1_Silent_p.S219S|MAPK3_ENST00000395199.3_Silent_p.S219S			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	219	Protein kinase.				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|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|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)	CTCCTACCTTGGAGTTCAGCA	0.612000													20	41					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642314	90642314	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:90642314G>A	ENST00000257749.4	-	9	3046	c.2339C>T	c.(2338-2340)cCc>cTc	p.P780L	BACH2_ENST00000343122.3_Missense_Mutation_p.P780L|BACH2_ENST00000537989.1_Missense_Mutation_p.P780L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	780						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGTGCCCAGGGGGGTCCGGG	0.642000													59	86					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782782	54782782	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54782782G>A	ENST00000391748.1	-	6	967	c.840C>T	c.(838-840)aaC>aaT	p.N280N	LILRB2_ENST00000314446.5_Silent_p.N280N|LILRB2_ENST00000391749.4_Silent_p.N280N|LILRB2_ENST00000434421.1_Silent_p.N164N|LILRB2_ENST00000391746.1_Silent_p.N280N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	280	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGAAGTTGGCCTGGG	0.647000													11	124					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384744	39384744	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39384744C>T	ENST00000289248.2	-	2	1149	c.141G>A	c.(139-141)agG>agA	p.R47R	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Silent_p.R127R|RHBDL2_ENST00000372990.1_Silent_p.R47R|RHBDL2_ENST00000540558.1_Silent_p.R47R|RHBDL2_ENST00000538156.1_Silent_p.R114R			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	47					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTGAGACAATCCTGTGGACCT	0.502000													56	120					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614955	36614955	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:36614955C>T	ENST00000311485.3	-	2	925	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	255					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GACAGAGATTCCTCCTGGCAA	0.438000									Familial Hemophagocytic Lymphohistiocytosis				30	62					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74803672	74803672	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74803672C>T	ENST00000290536.5	-	6	959	c.843G>A	c.(841-843)ttG>ttA	p.L281L	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.L281L|M1AP_ENST00000409585.1_Silent_p.L281L	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CATCCATTCTCAAGGAGCCGT	0.483000													20	40					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147499644	147499644	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147499644C>T	ENST00000359874.3	+	25	2459	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W|SPINK5_ENST00000256084.7_Missense_Mutation_p.R796W	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	796	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGTCCGGGGTCCAGA	0.388000													25	41					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422083	47422083	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47422083C>T	ENST00000404338.3	+	1	151	c.151C>T	c.(151-153)Cac>Tac	p.H51Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	51					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGACGAGTTTCACTTGGACCA	0.542000													5	117					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24146027	24146027	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:24146027A>T	ENST00000378491.4	+	4	742	c.441A>T	c.(439-441)gaA>gaT	p.E147D		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	147					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCAAAGAAGAAAAATTCCTCC	0.502000													11	147					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150190	87150190	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87150190G>A	ENST00000265724.3	-	23	3105	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.I832I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	896	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTCAGTAGCGATCTGTAACA	0.368000													26	74					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152675	149152675	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149152675G>A	ENST00000247930.4	-	2	762	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCAGTCTCGGGAACTGTTGGG	0.602000													81	340					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679658	75679658	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75679658C>T	ENST00000370855.5	-	21	1932	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC44A5_ENST00000535611.1_Missense_Mutation_p.E477K|SLC44A5_ENST00000370859.3_Missense_Mutation_p.E607K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	607						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TATGTAACTTCATCTGTAACT	0.279000													33	82					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169292464	169292464	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169292464A>G	ENST00000367811.3	-	3	425	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Silent_p.L21L	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	57	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AAATCTTCCAAGTGCAGGTTA	0.368000													62	188					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78419526	78419526	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:78419526G>A	ENST00000278550.7	-	27	4551	c.4089C>T	c.(4087-4089)ttC>ttT	p.F1363F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCCATCCACGAAGTAGATCA	0.522000													25	34					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37631836	37631836	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37631836C>T	ENST00000434837.2	-	2	1292	c.114G>A	c.(112-114)gtG>gtA	p.V38V	MDGA1_ENST00000297153.7_Silent_p.V38V|MDGA1_ENST00000505425.1_Silent_p.V38V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	38	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGTCCTCTTTCACCACACATG	0.607000													34	152					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117701773	117701773	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117701773G>A	ENST00000317775.6	-	13	2828	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.P715S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	715					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGTTCCAGGGATCAGGCTGG	0.577000													45	142					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256032	61256032	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61256032G>A	ENST00000344731.5	+	2	233	c.131G>A	c.(130-132)gGg>gAg	p.G44E	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G44E	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	44					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						GTCCTCCTGGGGACCCGAGGA	0.527000													29	47					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220347517	220347517	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220347517G>A	ENST00000312358.7	+	29	5709	c.5577G>A	c.(5575-5577)aaG>aaA	p.K1859K	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1859					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCAGGCAAAGGGCGCAGAGG	0.582000													11	42					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38850708	38850708	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38850708G>A	ENST00000359357.3	+	52	7484	c.7230G>A	c.(7228-7230)aaG>aaA	p.K2410K	DNAH8_ENST00000441566.1_Silent_p.K2374K|DNAH8_ENST00000449981.2_Silent_p.K2627K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGAATAAGAAACTTCAGC	0.289000													89	229					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552258	100552258	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100552258G>A	ENST00000319509.7	+	1	1009	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCTCCCACTGATCCATGTGT	0.478000													82	661					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666379	167666379	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167666379G>A	ENST00000367854.3	+	6	849	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	RCSD1_ENST00000537350.1_Missense_Mutation_p.R143Q	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	173										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCCTCCAGGCGATTCCGAAGG	0.498000													40	97					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551427	100551427	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100551427G>A	ENST00000397112.4	-	0	1771					NR_036632.1															large_intestine(1)|lung(3)	4						CAACAGATGAGCCAGGCGCTG	0.627000													28	67					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27631591	27631591	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27631591C>T	ENST00000319394.3	+	15	2278	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	WDTC1_ENST00000361771.3_Silent_p.S580S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	581							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGGATGAGTCCATTGTCAACT	0.587000													27	61					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906739	24906739	+	Silent	SNP	G	G	A	rs149187760		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24906739G>A	ENST00000413389.2	+	4	1776	c.183G>A	c.(181-183)acG>acA	p.T61T	UPB1_ENST00000326010.5_Silent_p.T129T			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	129					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTTCTGTACGAGAGAGAAGC	0.527000													39	114					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163547	32163547	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32163547G>A	ENST00000375023.3	-	30	5817	c.5679C>T	c.(5677-5679)gcC>gcT	p.A1893A	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1893					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AATGAGAATAGGCCCCGCCCC	0.706000													18	71					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022544	73022544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:73022544C>T	ENST00000263674.3	+	1	3211	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	954					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGCCCTCCTCCAGACACGTT	0.632000													45	78					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32653624	32653624	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32653624G>A	ENST00000373609.1	+	4	948	c.667G>A	c.(667-669)Gag>Aag	p.E223K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E223K			P40222	TXLNA_HUMAN	taxilin alpha	223					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	p.E223Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTGGTGCAAGAGAAGGACCA	0.612000													7	24					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892585	88892585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88892585G>A	ENST00000556553.1	+	6	845	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	SPATA7_ENST00000045347.7_Missense_Mutation_p.E128K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E96K|SPATA7_ENST00000393545.4_Missense_Mutation_p.E128K			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	128					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GCCCTCAGGCGAACCGCAAAT	0.378000													12	41					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160783292	160783292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:160783292C>T	ENST00000498165.1	+	3	777	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47S|PPM1L_ENST00000295839.9_Missense_Mutation_p.P99S	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	226	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.P226S(1)|p.P47S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GAACGCTATTCCTTTGTCTCA	0.483000													41	94					0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63764708	63764708	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63764708T>A	ENST00000541478.1	+	3	767	c.307T>A	c.(307-309)Tgc>Agc	p.C103S	OTUB1_ENST00000428192.2_Missense_Mutation_p.C204S|OTUB1_ENST00000422031.2_Missense_Mutation_p.C241S|OTUB1_ENST00000535715.1_Missense_Mutation_p.C204S|OTUB1_ENST00000543004.1_Missense_Mutation_p.C213S|OTUB1_ENST00000538426.1_Missense_Mutation_p.C204S|OTUB1_ENST00000543988.1_Missense_Mutation_p.C174S			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	204	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGGAGTTCTGCCAGCAGGT	0.672000													6	133					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332544	76332544	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76332544C>T	ENST00000312916.7	+	4	1062	c.681_splice	c.e4+1	p.S227_splice		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	227					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TATTATGATTCTGTAAGTATC	0.438000													39	69					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328612	152328612	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152328612T>G	ENST00000388718.5	-	3	1722	c.1650A>C	c.(1648-1650)tcA>tcC	p.S550S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	550	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATTGACTTGAGCCAGAAC	0.488000													13	652					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617786	111617786	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:111617786G>A	ENST00000374667.3	-	1	1453	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	142						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTGCTCCTCGGGGAGGATCTT	0.627000													21	71					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103597986	103597986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103597986G>A	ENST00000560869.1	+	8	1948	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.E106K|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E437K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	437					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GATGTCCATGGAGCAGAATTG	0.622000													12	13					0	0	1	0	0
MIR1208	100302281	broad.mit.edu	37	8	129162434	129162434	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:129162434G>A	ENST00000408334.1	+	0	73					NR_031613.1																						CACTGTGGTGGGGGGGAGTGG	0.567000													38	63					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076852	57076852	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57076852C>T	ENST00000532437.1	-	5	3644	c.3333G>A	c.(3331-3333)cgG>cgA	p.R1111R	TNKS1BP1_ENST00000358252.3_Silent_p.R1111R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1111	Acidic.|Gly-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)				TGCAGAAGTCCCGGCTCCAGT	0.577000													8	183					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980671	44980671	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44980671A>G	ENST00000221327.4	-	5	2308	c.2027T>C	c.(2026-2028)cTt>cCt	p.L676P	ZNF180_ENST00000391956.4_Missense_Mutation_p.L651P|ZNF180_ENST00000592529.1_Missense_Mutation_p.L649P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATGCCTAATAAGTTTATAGCT	0.338000													5	145					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834232	82834232	+	Missense_Mutation	SNP	G	G	C	rs141680853	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82834232G>C	ENST00000265077.3	+	8	5975	c.5410G>C	c.(5410-5412)Gca>Cca	p.A1804P	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.A817P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1804	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.A1804fs*5(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAATTTGGGGGCACAGACCAC	0.468000													50	84					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46834482	46834482	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46834482G>A	ENST00000339613.2	+	13	1869	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	HIF3A_ENST00000600383.1_Silent_p.R525R|HIF3A_ENST00000300862.3_Silent_p.R592R|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.R543R|HIF3A_ENST00000377670.4_Silent_p.R594R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.R525R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	594	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTCCCAAAAGGTCCCCCAGCC	0.557000													28	39					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557716	149557716	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149557716C>T	ENST00000223210.4	+	7	1712	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCTGCTCAGCCTGCATAGAAA	0.453000													74	179					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803644	142803644	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:142803644C>T	ENST00000423385.1	-	0	1321																											gtgttgtattctgggctagac	0.303000													11	62					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67173401	67173401	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67173401G>A	ENST00000526387.1	+	6	529	c.491G>A	c.(490-492)aGg>aAg	p.R164K	TBC1D10C_ENST00000542590.1_Silent_p.K165K|TBC1D10C_ENST00000312390.5_Silent_p.K165K	NM_001256508.1	NP_001243437.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	0	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGTGCTCAAGGCCTACACCC	0.677000													5	13					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156902286	156902286	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156902286G>A	ENST00000337428.7	+	14	1666	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	504										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGTTCTCCAAGGCCAAGAGTG	0.592000													47	63					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434746	72434746	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:72434746G>A	ENST00000373208.1	+	2	517	c.517G>A	c.(517-519)Gga>Aga	p.G173R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G173R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	173					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAACTGTGACGGATTGGTAAG	0.542000													36	66					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194496	33194496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:33194496C>T	ENST00000309558.3	-	5	2045	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	543					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCTTCCTGTCCAAAGAAGTC	0.577000													4	36					0	0	1	0	0
CLEC18C	283971	broad.mit.edu	37	16	70211272	70211272	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000561612.1_Intron	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662000													20	93					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36171078	36171078	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:36171078G>A	ENST00000335119.2	+	1	1690	c.1579G>A	c.(1579-1581)Gtg>Atg	p.V527M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	527					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGACAGCAAGGTGTTTGTATG	0.527000													40	90					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581754	7581754	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7581754G>A	ENST00000379802.3	+	23	5672	c.5331G>A	c.(5329-5331)agG>agA	p.R1777R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1777	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)		AGAGAGAGAGGGAAAATTTGA	0.408000													49	178					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170378	39170378	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:39170378C>T	ENST00000301819.6	+	14	2052	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	TTC21A_ENST00000440121.1_Silent_p.S576S|TTC21A_ENST00000431162.2_Silent_p.S624S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	624							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCGGGCATCCATCTTATTGG	0.557000													8	134					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438622	40438622	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40438622C>T	ENST00000381793.2	-	4	1562	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.R351K|RBM47_ENST00000295971.7_Missense_Mutation_p.R389K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	389						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCTGGGGCTCTGTTGCCAGC	0.522000													83	203					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416042	41416042	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41416042C>T	ENST00000400454.1	-	31	5823	c.5346G>A	c.(5344-5346)gaG>gaA	p.E1782E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1782					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTGTCGCTCTCTTTGTCTA	0.637000													40	94					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223773609	223773609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:223773609C>T	ENST00000357430.3	+	4	650	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ACSL3_ENST00000392066.3_Missense_Mutation_p.P40L	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	40					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ACATACATTCCGTTTTATTTT	0.289000			T	ETV1	prostate								12	195					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527632	46527632	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46527632G>A	ENST00000262741.5	-	6	1422	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	PIK3R3_ENST00000372006.1_Missense_Mutation_p.R245C|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R245C|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R291C|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R245C|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R209C|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R245C	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	245					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCCTCTCTGCGAAATCGCTCA	0.378000													14	329					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906606	42906606	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42906606C>T	ENST00000422265.1	+	3	787	c.612C>T	c.(610-612)acC>acT	p.T204T	ACKR2_ENST00000273145.2_Silent_p.T204T|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T204T|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGCATGGGACCATTTGGAAGC	0.527000													12	257					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893862	123893862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123893862G>A	ENST00000375024.1	+	1	143	c.143G>A	c.(142-144)aGg>aAg	p.R48K		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGTGATCAGGGTGGATTCT	0.557000													7	98					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003985	34003985	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34003985G>T	ENST00000382491.3	-	28	4025	c.3901C>A	c.(3901-3903)Ccc>Acc	p.P1301T	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1387T|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1348T	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1348	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTGGGGTGGGAACAGGTGAC	0.428000													8	66					0.0381472	0.0381732	1	1	0
ABCA4	24	broad.mit.edu	37	1	94502771	94502771	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:94502771C>T	ENST00000370225.3	-	25	3829	c.3743G>A	c.(3742-3744)aGa>aAa	p.R1248K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1248					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCAGCTCTCTGAAAAGGCT	0.478000													57	132					0	0	1	0	0
FAM115C	285966	broad.mit.edu	37	7	143421801	143421801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143421801G>A	ENST00000444908.2	+	7	2601	c.2516G>A	c.(2515-2517)aGa>aAa	p.R839K	FAM115C_ENST00000425618.2_Missense_Mutation_p.R558K|FAM115C_ENST00000411497.2_Missense_Mutation_p.R558K|FAM115C_ENST00000357344.4_Missense_Mutation_p.R839K|FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000441159.2_Intron	NM_001130025.1	NP_001123497.1	A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	0										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GTACTGAGCAGAAATTCTGGG	0.577000													5	143					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180630571	180630571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180630571C>T	ENST00000274773.7	-	2	653	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	TRIM7_ENST00000334421.5_Missense_Mutation_p.E198K|TRIM7_ENST00000393315.1_5'UTR|TRIM7_ENST00000361809.3_5'UTR|TRIM7_ENST00000422067.2_5'UTR	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	198						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCCTTCTTTTCCGTGGACCGG	0.582000													13	99					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14949176	14949176	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14949176G>A	ENST00000285046.5	+	10	3404	c.3294G>A	c.(3292-3294)gaG>gaA	p.E1098E	FGD5_ENST00000543601.1_Silent_p.E857E|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1098					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCACATTGAGCACAGCGTCC	0.632000													13	35					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453046	114453046	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:114453046G>A	ENST00000375478.3	-	3	974	c.794C>T	c.(793-795)tCt>tTt	p.S265F	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		GCTAAGATAAGAAACTTTCTT	0.398000													38	20					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021531	2021531	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2021531C>T	ENST00000262113.4	+	10	1212	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	357	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCTGCGCATCGTGTCTCGGG	0.627000													22	42					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445947	213445947	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:213445947C>T	ENST00000366960.3	+	15	3321	c.3171C>T	c.(3169-3171)acC>acT	p.T1057T	RPS6KC1_ENST00000543470.1_Silent_p.T845T|RPS6KC1_ENST00000366959.3_Silent_p.T1045T|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1057					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CATTTTTTACCCCTGTGGATT	0.453000													22	80					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072955	98072955	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98072955T>A	ENST00000354924.2	+	1	258	c.258T>A	c.(256-258)ttT>ttA	p.F86L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTTCTTTTCTGAGGATA	0.433000													7	471					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940678	144940678	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144940678G>A	ENST00000525985.1	-	2	6815	c.6744C>T	c.(6742-6744)gcC>gcT	p.A2248A				P58107	EPIPL_HUMAN	epiplakin 1	2248						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.A2248A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCCACATGGCCTGGTAGA	0.706000													8	169					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37357032	37357032	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37357032C>T	ENST00000336755.5	+	9	1505	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.R177C	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	467							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGACAGACATCGTGAAGTGGA	0.443000													23	58					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767930	154767930	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154767930G>A	ENST00000404141.1	-	6	704	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R184C			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	184					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATAATCAGACGAGGATGATAA	0.398000													19	46					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794790	7794790	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7794790A>C	ENST00000328853.5	-	8	728	c.660T>G	c.(658-660)ggT>ggG	p.G220G		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	220	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCAGCCAGTAACCACGGCCAC	0.657000													36	77					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19680597	19680597	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19680597C>T	ENST00000438132.3	+	27	2652	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	C16orf62_ENST00000251143.5_Silent_p.F779F|C16orf62_ENST00000448695.1_Silent_p.F629F|C16orf62_ENST00000542263.1_Silent_p.F775F|C16orf62_ENST00000417362.2_Silent_p.F686F|C16orf62_ENST00000543152.1_Silent_p.F528F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	779						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCTGCAATTTCTTTTCTACTT	0.418000													13	74					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921894	78921894	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78921894G>A	ENST00000261751.3	-	5	864	c.753C>T	c.(751-753)atC>atT	p.I251I	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	251					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGAAGACGAGGATGGCCAGCA	0.547000													55	95					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832275	130832275	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:130832275C>T	ENST00000357462.5	-	15	2863	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	POTEF_ENST00000409914.2_Missense_Mutation_p.E924K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	924	Actin-like.					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						ATCTCCTGCTCGAAGTCCAGG	0.592000													38	61					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621543	24621543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24621543G>A	ENST00000327365.4	-	9	1723	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	GGT5_ENST00000263112.7_Missense_Mutation_p.P404L|GGT5_ENST00000418439.2_Missense_Mutation_p.P359L|GGT5_ENST00000398292.3_Missense_Mutation_p.P436L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	436					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGAACCCCGGGGGCATCGCTC	0.647000													15	40					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052973	44052973	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:44052973C>T	ENST00000306006.6	-	2	1207	c.555G>A	c.(553-555)ggG>ggA	p.G185G	ZNF239_ENST00000374446.2_Silent_p.G185G|ZNF239_ENST00000535642.1_Silent_p.G185G|ZNF239_ENST00000426961.1_Silent_p.G185G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAGTATTTTCCCACAGTTAT	0.423000													16	185					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411477	23411477	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:23411477G>A	ENST00000379361.4	+	3	2702	c.1842G>A	c.(1840-1842)agG>agA	p.R614R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	614					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACATGTTGAGGAATTCCTTTC	0.393000													84	37					0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100883131	100883131	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100883131G>A	ENST00000223136.4	-	5	495	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	FIS1_ENST00000442303.1_3'UTR|FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000474120.1_3'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	139					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTCCGGCCAGTCCCGCCACA	0.647000													7	18					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67690508	67690508	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67690508G>A	ENST00000334583.6	+	35	4324	c.3996G>A	c.(3994-3996)ctG>ctA	p.L1332L	RLTPR_ENST00000545661.1_Silent_p.L1296L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1332	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGACAGCCTGGGCCTCCCAG	0.652000													27	39					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712510	247712510	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247712510T>C	ENST00000366491.2	+	4	514	c.17T>C	c.(16-18)cTg>cCg	p.L6P	GCSAML_ENST00000366488.4_Missense_Mutation_p.L6P|GCSAML_ENST00000536561.1_Missense_Mutation_p.L6P|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.L6P|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.C127R|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		AATTATCTCCTGCGAAAACTC	0.468000													26	87					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73399022	73399022	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:73399022C>T	ENST00000361823.5	-	7	1013	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	TRPM3_ENST00000396283.1_Splice_Site_p.G255_splice|TRPM3_ENST00000423814.3_Splice_Site_p.G410_splice|TRPM3_ENST00000377105.1_Splice_Site_p.G230_splice|TRPM3_ENST00000358082.3_Splice_Site_p.G255_splice|TRPM3_ENST00000396280.5_Splice_Site_p.G230_splice|TRPM3_ENST00000357533.2_Splice_Site_p.G385_splice|TRPM3_ENST00000377111.2_Splice_Site_p.G383_splice|TRPM3_ENST00000396285.1_Splice_Site_p.G230_splice|TRPM3_ENST00000360823.2_Splice_Site_p.G255_splice|TRPM3_ENST00000377106.1_Splice_Site_p.G255_splice|TRPM3_ENST00000377101.1_Splice_Site_p.G230_splice|TRPM3_ENST00000396292.4_Splice_Site_p.G255_splice|TRPM3_ENST00000408909.2_Splice_Site_p.G230_splice|TRPM3_ENST00000377110.2_Splice_Site_p.G383_splice	NM_001007470.1|NM_206948.2	NP_001007471.1|NP_996831.1	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	408						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTACCTACCCGCCTTCTTCT	0.517000													31	59					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674042	4674042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4674042C>T	ENST00000396952.5	+	2	936	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	95					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)		CACTACCATCCAGTTTGATGC	0.473000													35	29					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845840	24845840	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24845840C>T	ENST00000413692.2	+	10	2730	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	NFATC4_ENST00000554344.1_Silent_p.F729F|NFATC4_ENST00000555802.1_Silent_p.F87F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555590.1_Silent_p.F812F|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557451.1_Silent_p.F729F|NFATC4_ENST00000553879.1_Silent_p.F729F|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Silent_p.F334F|NFATC4_ENST00000556279.1_Silent_p.F831F|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000539237.2_Silent_p.F831F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555167.1_Silent_p.F334F|NFATC4_ENST00000424781.2_Silent_p.F812F|NFATC4_ENST00000422617.3_Silent_p.F787F|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000250373.4_Silent_p.F799F|NFATC4_ENST00000553708.1_Silent_p.F799F|NFATC4_ENST00000555393.1_Silent_p.F87F|NFATC4_ENST00000555453.1_Silent_p.F787F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	799					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTCCTCTTTCTCCCTGGGGC	0.637000													84	139					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805223	115805223	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:115805223G>A	ENST00000374227.3	-	4	1702	c.1675C>T	c.(1675-1677)Cac>Tac	p.H559Y	ZFP37_ENST00000553380.1_Missense_Mutation_p.H574Y|ZFP37_ENST00000555206.1_Missense_Mutation_p.H560Y			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAATGAGGTGAGACTTTTGG	0.378000													42	86					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791178	49791178	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:49791178C>T	ENST00000249601.4	-	2	350	c.54G>A	c.(52-54)gtG>gtA	p.V18V	ARHGAP22_ENST00000435790.2_Silent_p.V24V|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.V18V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	18					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCCCCCATCACTAGGCTTT	0.637000													105	193					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371685	49371685	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:49371685G>A	ENST00000374201.3	-	28	3869	c.3567C>T	c.(3565-3567)ttC>ttT	p.F1189F	FRMPD2_ENST00000474573.1_Silent_p.F141F|FRMPD2_ENST00000305531.3_Silent_p.F1164F|FRMPD2_ENST00000407470.4_Silent_p.F1157F|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1189					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTGCCCTGGTGAATTCTTTGT	0.473000													5	214					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727558	36727558	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36727558C>T	ENST00000456324.1	+	3	1665	c.216C>T	c.(214-216)ttC>ttT	p.F72F	ZNF146_ENST00000443387.2_Silent_p.F72F|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	72					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGAAGCTTTTCGAATGTAATG	0.398000													55	100					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179496982C>T	ENST00000589042.1	-	236	43863	c.43639G>A	c.(43639-43641)Gaa>Aaa	p.E14547K	TTN_ENST00000359218.5_Missense_Mutation_p.E5607K|TTN_ENST00000591111.1_Missense_Mutation_p.E12906K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11979K|TTN_ENST00000460472.2_Missense_Mutation_p.E5482K|TTN_ENST00000342175.6_Missense_Mutation_p.E5674K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12906	Fibronectin type-III 5.						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)			GTTTTCCCTTCGTCTTGCATT	0.433000													9	15					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966958	39966958	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39966958G>A	ENST00000599117.1	+	31	3550	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	SUPT5H_ENST00000432763.2_Silent_p.E1061E|SUPT5H_ENST00000598725.1_Silent_p.E1061E|SUPT5H_ENST00000402194.2_Silent_p.E1057E|SUPT5H_ENST00000359191.6_Silent_p.E1057E			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1061					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)			TTGATGGTGAGGATGGCATTG	0.597000													33	84					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42232458	42232458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42232458G>A	ENST00000541110.1	-	7	2187	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	TRERF1_ENST00000340840.2_Missense_Mutation_p.S540F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S540F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S540F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S540F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	540	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGGTTGGGGGAGGCCCTCAT	0.567000													30	122					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300419	18300419	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18300419C>T	ENST00000441493.2	-	26	5360	c.5008G>A	c.(5008-5010)Gag>Aag	p.E1670K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1670						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGACCTCCTCGCTGGTGGCT	0.657000													10	22					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265374	38265374	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:38265374G>A	ENST00000373045.6	+	4	1254	c.873G>A	c.(871-873)tcG>tcA	p.S291S	MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.S69S|MANEAL_ENST00000525897.1_Silent_p.S97S	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	291						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCCCCATTCGATCCGCAACA	0.597000													5	201					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443964	61443964	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61443964G>A	ENST00000395348.3	-	2	722	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S29F|SLC16A9_ENST00000490066.1_5'UTR	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	29					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AGCTAGTGGGGATCCGTAACA	0.478000													58	149					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91832881	91832881	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91832881C>T	ENST00000394232.1	+	12	2309	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	SV2B_ENST00000545111.2_Silent_p.I462I|SV2B_ENST00000330276.4_Silent_p.I613I	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	613					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGATGTGATCACAGTGGAGC	0.527000													27	48					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45960755	45960755	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:45960755G>A	ENST00000432082.1	-	5	778	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CCDC163P_ENST00000490551.3_3'UTR|CCDC163P_ENST00000502793.2_5'UTR																cervix(1)|endometrium(1)	2						GGGCCCCAAAGGAATAGGTCC	0.507000													52	83					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472403	23472403	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23472403G>A	ENST00000246012.1	+	2	456	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	33						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGTGCTGAGGAAATTAAAAC	0.527000													19	185					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23404643	23404643	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23404643G>A	ENST00000307149.5	-	15	2098	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	638					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AAGATTCAGGGGGAGGGACAT	0.488000													24	52					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9309839	9309839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9309839G>A	ENST00000261336.2	-	28	3510	c.3482C>T	c.(3481-3483)tCc>tTc	p.S1161F	PZP_ENST00000381997.2_Missense_Mutation_p.S947F	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S947F(1)|p.S1161F(1)		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						TCCCAGTAGGGAAAAAGCATA	0.478000													46	88					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10261133	10261133	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10261133C>T	ENST00000418404.3	-	7	820	c.657G>A	c.(655-657)gaG>gaA	p.E219E	MYH13_ENST00000252172.4_Silent_p.E219E|MYH13_ENST00000570743.1_Silent_p.E219E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	219	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGATCTGATCCTCTAGGGTTC	0.458000													30	90					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525363	248525363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248525363C>T	ENST00000366475.1	+	1	481	c.481C>T	c.(481-483)Cct>Tct	p.P161S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	161					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)			CATCTGCCATCCTCTCCGTTA	0.522000													165	133					0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111980541	111980541	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111980541C>T	ENST00000283547.1	+	3	199	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	24						integral to membrane											GTGTGACGTTCCTCTGTATGA	0.542000													30	28					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032688	55032688	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55032688C>T	ENST00000417545.2	+	2	443	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	103						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGAAGATGTTCTGTGAAGTGG	0.532000													6	107					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73198541	73198541	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73198541C>T	ENST00000541685.1	-	4	415	c.403G>A	c.(403-405)Gag>Aag	p.E135K	DPF3_ENST00000556509.1_Missense_Mutation_p.E135K|DPF3_ENST00000546183.1_Missense_Mutation_p.E145K	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	135					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTTCCTCCTCCCTGGCATCC	0.582000													13	22					0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19839734	19839734	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19839734G>A	ENST00000225737.6	-	9	1489	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	AKAP10_ENST00000395536.3_Silent_p.S444S	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	444	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGCTTGGAGGGAGAAGTACC	0.413000													21	32					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775074	24775074	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24775074G>A	ENST00000221166.5	+	3	2488	c.1706G>A	c.(1705-1707)gGa>gAa	p.G569E	NEFM_ENST00000437366.2_Missense_Mutation_p.G569E|NEFM_ENST00000518131.1_Missense_Mutation_p.G569E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.G193E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	569	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		caggaagaaggagaaacagaa	0.507000													7	11					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346027	11346027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11346027C>T	ENST00000376810.5	+	2	1182	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	286					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CCTGGCACTCCCCCTGCTTAC	0.572000													20	282					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120362466	120362466	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:120362466G>A	ENST00000602047.1	+	11	1181	c.69G>A	c.(67-69)caG>caA	p.Q23Q	PCDP1_ENST00000413369.3_Silent_p.Q309Q|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		309						cilium	calmodulin binding					Colorectal(110;0.196)					TTGAGTACCAGAACCTCAGAT	0.413000													51	138					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124627180	124627180	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124627180C>T	ENST00000311075.3	-	11	1388	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	450						extracellular region|integral to membrane|plasma membrane		p.T450T(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATATGCTTCGTTTTGTTAT	0.343000													22	39					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004593	145004593	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145004593G>A	ENST00000322810.4	-	20	2996	c.2827C>T	c.(2827-2829)Cgc>Tgc	p.R943C	PLEC_ENST00000356346.3_Missense_Mutation_p.R792C|PLEC_ENST00000354589.3_Missense_Mutation_p.R806C|PLEC_ENST00000398774.2_Missense_Mutation_p.R774C|PLEC_ENST00000527096.1_Missense_Mutation_p.R829C|PLEC_ENST00000436759.2_Missense_Mutation_p.R833C|PLEC_ENST00000354958.2_Missense_Mutation_p.R784C|PLEC_ENST00000345136.3_Missense_Mutation_p.R806C|PLEC_ENST00000357649.2_Missense_Mutation_p.R810C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	943	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGGCAGGCGGCCCCGCATG	0.711000													9	8					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600936	161600936	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161600936G>A	ENST00000531221.1	-	1	60	c.57C>T	c.(55-57)gtC>gtT	p.V19V	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_5'UTR|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCCTAAAGGGACCAAGCCGA	0.517000													15	49					0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270136	21270136	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21270136G>A	ENST00000397967.4	-	2	598	c.92C>T	c.(91-93)tCc>tTc	p.S31F	RNASE1_ENST00000555698.1_5'UTR|RNASE1_ENST00000412779.2_Missense_Mutation_p.S31F|RNASE1_ENST00000397970.4_Missense_Mutation_p.S31F|RNASE1_ENST00000340900.3_Missense_Mutation_p.S31F	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	31						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		CTTGGCCCGGGATTCCTTGCC	0.577000													44	51					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20917416	20917416	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20917416A>G	ENST00000206542.4	-	4	842	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	OSGEP_ENST00000555656.1_5'UTR|OSGEP_ENST00000554249.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	141					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGTTCCGAGTATGCAATCACC	0.458000													25	48					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201823803	201823803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201823803C>T	ENST00000361565.4	+	7	840	c.771C>T	c.(769-771)ggC>ggT	p.G257G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	257					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TACCAGATGGCCCCACATCTG	0.458000													93	147					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132636103	132636103	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:132636103C>T	ENST00000330579.1	+	12	1189	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	383					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCCCCTGAGGCCCTGCTCATG	0.706000													13	21					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327840	42327840	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:42327840C>T	ENST00000262418.6	-	20	2877	c.2722G>A	c.(2722-2724)Gcc>Acc	p.A908T		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	908	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGGCATGGCCACTTCGTCG	0.592000													28	70					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52585420	52585420	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52585420G>A	ENST00000313234.5	-	1	364	c.267C>T	c.(265-267)gcC>gcT	p.A89A	KRT80_ENST00000394815.2_Silent_p.A89A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	89	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TATCATTGAGGGCCTTCATCT	0.577000													37	127					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101911460	101911460	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:101911460G>A	ENST00000295317.3	-	2	751	c.644C>T	c.(643-645)tCg>tTg	p.S215L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	215						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CCAGGCTAACGAGATAATCAT	0.433000													13	101					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71272495	71272495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:71272495G>A	ENST00000260382.5	+	10	1237	c.977G>A	c.(976-978)cGg>cAg	p.R326Q	LRRC49_ENST00000544974.2_Missense_Mutation_p.R316Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.R14Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.R32Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.R282Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.R331Q	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	326						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAGAAGAAGCGGGAAAGTCAT	0.388000													42	48					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19027768	19027768	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:19027768C>T	ENST00000354791.3	-	17	1591	c.1350G>A	c.(1348-1350)gtG>gtA	p.V450V	GPR64_ENST00000357991.3_Silent_p.V463V|GPR64_ENST00000340581.3_Silent_p.V436V|GPR64_ENST00000379869.3_Silent_p.V466V|GPR64_ENST00000379873.2_Silent_p.V466V|GPR64_ENST00000379876.1_Silent_p.V442V|GPR64_ENST00000379878.3_Silent_p.V450V|GPR64_ENST00000356606.4_Silent_p.V452V|GPR64_ENST00000360279.4_Silent_p.V444V|GPR64_ENST00000357544.3_Silent_p.V436V			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	466					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGTCTTGGGCCACAAAGGTAG	0.418000													36	118					0	0	1	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453557	22453557	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22453557C>T	ENST00000390283.2	+	0	349																											CCCTCACCATCACGGGGGCCC	0.507000													29	81					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049163	9049163	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9049163G>A	ENST00000397910.4	-	5	32671	c.32468C>T	c.(32467-32469)tCa>tTa	p.S10823L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10825	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						CGTGACCAATGAAACTGTTGT	0.483000													81	155					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306172	54306172	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54306172G>A	ENST00000545554.1	+	1	1072	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E358K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E358K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	358					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATTAAAATTGAATTTGCTCA	0.383000													24	34					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140722	143140722	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143140722G>C	ENST00000332690.1	+	1	177	c.177G>C	c.(175-177)ttG>ttC	p.L59F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	59					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATAAGTTATTGGTTAGCCTAG	0.498000													98	161					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71243603	71243603	+	Missense_Mutation	SNP	C	C	T	rs142948874		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71243603C>T	ENST00000373290.2	+	2	375	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	85						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GCTGGCGTCCCTCCGTGACAA	0.597000													6	104					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38506693	38506693	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38506693C>T	ENST00000263409.4	-	8	1195	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	LIFR_ENST00000453190.2_Missense_Mutation_p.D345N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	345	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTTTTAAATCATGTGTCTCA	0.363000			T	PLAG1	salivary adenoma								56	34					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108948874	108948874	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:108948874C>T	ENST00000505878.1	+	7	952	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	HADH_ENST00000454409.2_Silent_p.L227L|HADH_ENST00000403312.1_Silent_p.L282L|HADH_ENST00000309522.3_Silent_p.L223L|HADH_ENST00000603302.1_Silent_p.L223L|HADH_ENST00000510728.1_3'UTR			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	223					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GAACCGCCTCCTGGTTCCATA	0.473000													38	91					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351847	36351847	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36351847C>T	ENST00000360202.5	+	8	1163	c.965C>T	c.(964-966)tCc>tTc	p.S322F	KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	322	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCGTGTCCGTGGACGTG	0.677000													22	48					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39445506	39445506	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39445506G>A	ENST00000308521.5	+	5	1000	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	217					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TGGTCGGAACGAAAGCTGGCT	0.483000													74	133					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998546	120998546	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120998546G>C	ENST00000392793.1	+	9	2131	c.1860G>C	c.(1858-1860)tcG>tcC	p.S620S	TECTA_ENST00000264037.2_Silent_p.S620S			O75443	TECTA_HUMAN	tectorin alpha	620	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGACGGCCTCGCGGAACTGCG	0.657000													56	42					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601090	64601090	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:64601090C>T	ENST00000498707.1	-	21	3438	c.3096G>A	c.(3094-3096)ctG>ctA	p.L1032L	ADAMTS9_ENST00000295903.4_Silent_p.L1004L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1032	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCTGTCATCCAGTACATCAT	0.433000													33	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059639	9059639	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9059639G>A	ENST00000397910.4	-	3	28010	c.27807C>T	c.(27805-27807)acC>acT	p.T9269T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9271	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGGCAGGGGTTGATGTGA	0.488000													59	103					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138235807	138235807	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138235807G>A	ENST00000343526.4	+	8	1358		c.e8-1		TRIM24_ENST00000415680.2_Splice_Site|TRIM24_ENST00000497516.1_Splice_Site			O15164	TIF1A_HUMAN	tripartite motif containing 24						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTTCTTCTAGATTACATACC	0.398000													7	168					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401524	77401524	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:77401524G>A	ENST00000282849.5	-	4	1010	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	198					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGTGAGGATGGTGACCCGCA	0.517000													37	41					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055113	62055113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:62055113C>T	ENST00000577390.1	-	2	1149	c.195G>A	c.(193-195)tgG>tgA	p.W65*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.W65*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.W65*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.W65*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACATTTGATTCCAAACCCAGC	0.428000													22	21					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52794130	52794130	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:52794130C>T	ENST00000245457.5	+	2	1189	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	PTGER2_ENST00000557436.1_Silent_p.S90S	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	345						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CACAAACTTCCTGTTCTACAC	0.408000													31	85					0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127471701	127471701	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:127471701G>A	ENST00000356698.4	+	3	1009	c.420G>A	c.(418-420)atG>atA	p.M140I	RSPO3_ENST00000368317.3_Missense_Mutation_p.M140I|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	140						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		ACCATACTATGGAGTGTGTCA	0.388000													44	91					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818174	146818174	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:146818174G>A	ENST00000361727.3	+	6	1374	c.858G>A	c.(856-858)cgG>cgA	p.R286R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCAGGGGCGGAGCATTAACC	0.527000										HNSCC(39;0.1)			9	149					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3245183	3245183	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3245183G>A	ENST00000602557.1	-	19	3173	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	CSMD1_ENST00000602723.1_Missense_Mutation_p.S873F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S872F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S873F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S872F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S872F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S873F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	873	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCAGGCAGGAATCCGACTC	0.537000													7	8					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23091449	23091449	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23091449G>A	ENST00000219689.7	-	13	1993	c.1994C>T	c.(1993-1995)cCc>cTc	p.P665L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	665					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCCAGTCAAGGGGAATTTGAC	0.502000													11	108					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506582	10506582	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:10506582C>T	ENST00000444303.2	+	4	800	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	AMPD3_ENST00000396554.3_Missense_Mutation_p.P278S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	269					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CACCGATGGCCCCACGTAAGC	0.612000													13	13					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52585629	52585629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52585629G>A	ENST00000313234.5	-	1	155	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	KRT80_ENST00000394815.2_Missense_Mutation_p.P20S	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	20	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTGCCCACCGGGGTCACCTCA	0.731000													5	11					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875236	33875236	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33875236G>A	ENST00000374408.3	-	4	1442	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	449										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGGGGCCGGGAGCGAGGAAG	0.642000													26	51					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113148336	113148336	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113148336G>A	ENST00000401783.2	-	43	10415	c.10079C>T	c.(10078-10080)cCt>cTt	p.P3360L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3360	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAAAAGGAACAGGGCA	0.408000													47	95					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623911	21623911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21623911C>T	ENST00000304418.3	-	1	311	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ACCAGGTTCCCCAGCAGAGTG	0.572000													20	43					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3300765	3300765	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3300765G>A	ENST00000322608.2	-	1	939	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TATCATCAGAGAGAGAAGAAA	0.383000													14	45					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751942	26751942	+	Missense_Mutation	SNP	G	G	A	rs141345172		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26751942G>A	ENST00000326279.6	+	3	491	c.377G>A	c.(376-378)gGa>gAa	p.G126E	LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	126					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CGGCCAAAAGGAAAGAGCATG	0.512000													65	139					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776063	5776063	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5776063C>T	ENST00000317254.3	+	1	141	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGATTTCCTTCCCATTCTGCT	0.433000													27	26					0	0	1	0	0
TRAJ22	28733	broad.mit.edu	37	14	22991034	22991034	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22991034G>A	ENST00000390515.1	+	0	19																											GGTTCTGCAAGGCAACTGACC	0.408000													108	254					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388921	48388921	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48388921G>A	ENST00000224600.4	-	1	2070	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	653	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCTGGCCGAGCATAGTGG	0.672000													13	40					0	0	1	0	0
LINC00854	100874261	broad.mit.edu	37	17	41382109	41382109	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:41382109G>A	ENST00000433702.2	-	0	14					NR_047479.1																						catcggcagaggtgatagctg	0.577000													4	68					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797599	29797599	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29797599C>T	ENST00000428701.1	+	6	1080	c.902C>T	c.(901-903)tCt>tTt	p.S301F	HLA-G_ENST00000376815.3_Missense_Mutation_p.S117F|HLA-G_ENST00000360323.6_Missense_Mutation_p.S301F|HLA-G_ENST00000376828.2_Missense_Mutation_p.S306F|HLA-G_ENST00000376818.3_Missense_Mutation_p.S209F	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	301	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCAGAGCAGTCTTCCCTGCCC	0.582000													5	150					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944227	121944227	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121944227C>T	ENST00000442488.2	-	1	332	c.265G>A	c.(265-267)Gga>Aga	p.G89R	FEZF1_ENST00000427185.2_Missense_Mutation_p.G89R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.G89R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	89					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CCCGTCACTCCTGCCTTGGGG	0.677000													21	55					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002489	3002489	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3002489C>T	ENST00000381127.1	+	6	833	c.612C>T	c.(610-612)acC>acT	p.T204T	ARSF_ENST00000359361.2_Silent_p.T204T|ARSF_ENST00000537104.1_Silent_p.T204T	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	204						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCACCCTAACCTTTGGGAAGC	0.537000													44	86					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744886	36744886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:36744886G>A	ENST00000379881.3	-	10	1127	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	SOHLH2_ENST00000554962.1_Missense_Mutation_p.P424S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P424S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTTTTATATGGATCACCAATA	0.408000													41	81					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86270829	86270829	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:86270829C>T	ENST00000543262.1	-	3	546	c.220G>A	c.(220-222)Gga>Aga	p.G74R	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.G12R|ME3_ENST00000359636.2_Missense_Mutation_p.G74R|ME3_ENST00000393324.3_Missense_Mutation_p.G74R	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	74					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCGTGGATTCCAAGCTGCAGC	0.522000													52	97					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161557663	161557663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:161557663G>A	ENST00000320285.4	-	9	1258	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S187F	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	349					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AACTCCCACGGAGGCTGCAGA	0.542000													23	47					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040494	184040494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184040494G>A	ENST00000342981.4	+	11	2185	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	EIF4G1_ENST00000352767.3_Missense_Mutation_p.E598K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E427K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E504K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E504K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E395K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E395K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E427K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E591K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E551K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E551K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E591K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E598K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E598K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	591	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGCCCGGGGAACAGAAGTA	0.483000													7	82					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184869	19184869	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:19184869C>T	ENST00000275461.3	-	1	175	c.117G>A	c.(115-117)ttG>ttA	p.L39L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	39					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CTGGGTCCCCCAAGGAGACCC	0.662000													24	58					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120703950	120703950	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:120703950C>T	ENST00000263708.2	+	17	2320	c.1549C>T	c.(1549-1551)Cta>Tta	p.L517L	PTPN4_ENST00000544261.1_Silent_p.L150L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	517	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAATCTTGTCCTAATCAGAAT	0.274000													56	121					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47497149	47497149	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47497149C>T	ENST00000371901.3	+	3	611	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L120F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	121						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCTCCACTTCTTGGTATGTA	0.418000													88	175					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929202	50929202	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50929202G>A	ENST00000442544.2	+	19	3490	c.2874G>A	c.(2872-2874)ggG>ggA	p.G958G	DCC_ENST00000581580.1_Silent_p.G593G|DCC_ENST00000412726.1_Silent_p.G786G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	958	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTAGGGAAGGGAAGCCTCGTG	0.502000													78	161					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188326973	188326973	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:188326973C>T	ENST00000312675.4	+	6	700	c.454C>T	c.(454-456)Cct>Tct	p.P152S	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P152S|LPP_ENST00000543006.1_Missense_Mutation_p.P152S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	152	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AACAGCCTCTCCTCCAGTTTC	0.418000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								7	243					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42862945	42862945	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42862945C>T	ENST00000334370.4	+	29	5616	c.4981C>T	c.(4981-4983)Cgt>Tgt	p.R1661C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1728C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1728						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTAGCGAGATCGTATGAGGAA	0.607000													9	18					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098966	64098966	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:64098966T>A	ENST00000539294.1	+	4	710	c.394T>A	c.(394-396)Ttc>Atc	p.F132I	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	133												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TAATGCTGATTTCTCTACATG	0.418000													27	56					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655425	3655425	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3655425C>T	ENST00000356518.2	-	5	646	c.405G>A	c.(403-405)ggG>ggA	p.G135G	ADAM33_ENST00000379861.4_Silent_p.G135G|ADAM33_ENST00000350009.2_Silent_p.G135G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	135					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCACCTCATCCCAGAGCAGG	0.627000													28	55					0	0	1	0	0
SELM	140606	broad.mit.edu	37	22	31501919	31501919	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31501919C>T	ENST00000402395.1	-	4	579	c.162G>A	c.(160-162)aaG>aaA	p.K54K	RP3-412A9.11_ENST00000465536.1_5'UTR|RP3-412A9.11_ENST00000400299.2_Silent_p.K54K																							AACTCACCTCCTTTAGGCGGT	0.577000													58	134					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524750	10524750	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10524750C>T	ENST00000396560.2	+	3	500	c.273C>T	c.(271-273)ttC>ttT	p.F91F	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.F91F|ATF7IP2_ENST00000356427.2_Silent_p.F91F|ATF7IP2_ENST00000324570.5_Silent_p.F91F	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.F91L(1)		large_intestine(3)	3						GTAAAGTATTCTCTCAGAATT	0.333000													21	48					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11584043	11584043	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11584043C>T	ENST00000262442.3	+	19	3648	c.3580C>T	c.(3580-3582)Ctg>Ttg	p.L1194L	DNAH9_ENST00000454412.2_Silent_p.L1194L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1194	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527000													14	28					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156768086	156768086	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156768086G>A	ENST00000347377.6	+	23	3025	c.2594G>A	c.(2593-2595)cGg>cAg	p.R865Q	CYFIP2_ENST00000435847.2_Missense_Mutation_p.R564Q|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R150Q|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R669Q|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R865Q|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R890Q|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R839Q|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R790Q	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	890					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTTTGTGCGGACTGCCATT	0.478000													35	53					0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55513501	55513501	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:55513501C>T	ENST00000474267.1	-	4	753	c.232G>A	c.(232-234)Gga>Aga	p.G78R	WNT5A_ENST00000497027.1_Missense_Mutation_p.G63R|WNT5A_ENST00000264634.4_Missense_Mutation_p.G78R			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	78					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTCTTCTGTCCTTGAGAAAGT	0.483000													75	138					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197410230	197410230	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:197410230G>A	ENST00000273582.5	-	14	2338	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	KIAA0226_ENST00000296343.5_Missense_Mutation_p.P643L|KIAA0226_ENST00000389665.5_Missense_Mutation_p.P668L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	643	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CGAGGCGGCTGGAAGCTGCAT	0.612000													35	78					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744653	236744653	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:236744653G>A	ENST00000366582.3	-	20	2738	c.2624C>T	c.(2623-2625)tCt>tTt	p.S875F	HEATR1_ENST00000366581.2_Missense_Mutation_p.S875F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	875					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGAAAGGCTAGAACCATAGGT	0.358000													8	268					0	0	1	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471456	106471456	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106471456G>A	ENST00000390595.2	-	0	182																											AGCTAGTGAAGGTGTATCCAG	0.552000													12	202					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1497627	1497627	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1497627G>A	ENST00000345913.4	+	11	1913	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.D551N|TPO_ENST00000382198.1_Missense_Mutation_p.D435N|TPO_ENST00000346956.3_Missense_Mutation_p.D608N|TPO_ENST00000329066.4_Missense_Mutation_p.D608N|TPO_ENST00000337415.3_Missense_Mutation_p.D608N|TPO_ENST00000349624.3_Missense_Mutation_p.D435N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	608					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCCCCGCTGACCTGAGCAC	0.582000													12	27					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899415	36899415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36899415G>A	ENST00000429976.2	-	12	1913	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q6*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.Q6*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	556					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGCCCTTCTGGAAGAGGATG	0.493000													33	68					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128487829	128487829	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:128487829G>A	ENST00000325888.8	+	25	4628	c.4367G>A	c.(4366-4368)gGt>gAt	p.G1456D	FLNC_ENST00000346177.6_Missense_Mutation_p.G1456D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1456					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGGGGCTGGTGTCAGGGCC	0.637000													6	228					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519801	84519801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:84519801G>A	ENST00000395226.2	+	12	1348	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	AGPAT9_ENST00000509044.1_3'UTR|AGPAT9_ENST00000264409.4_Missense_Mutation_p.G377E	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	377					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AACCAGGAAGGAGAAGATGCA	0.323000													39	96					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083104	34083104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34083104G>A	ENST00000373381.4	-	38	6117	c.5941C>T	c.(5941-5943)Ctc>Ttc	p.L1981F	CSMD2_ENST00000373377.1_Missense_Mutation_p.L80F|CSMD2_ENST00000373380.1_Missense_Mutation_p.L854F|CSMD2_ENST00000373388.2_Missense_Mutation_p.L80F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1941	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTACCTGGAGGGCATATCCC	0.567000													11	40					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850809	207850809	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207850809G>A	ENST00000508064.2	+	2	233	c.173G>A	c.(172-174)gGg>gAg	p.G58E	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	58	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCCCATTGGGACATATCTG	0.473000													115	120					0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527000													35	70					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746788	77746788	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:77746788C>T	ENST00000409088.3	-	3	621	c.207G>A	c.(205-207)agG>agA	p.R69R	LRRTM4_ENST00000409282.1_Silent_p.R70R|LRRTM4_ENST00000409884.1_Silent_p.R69R|LRRTM4_ENST00000409911.1_Silent_p.R70R|LRRTM4_ENST00000409093.1_Silent_p.R69R	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	69						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCTGTTGAACCTTAATGATA	0.418000													38	100					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937294	6937294	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6937294G>A	ENST00000312053.4	+	19	2459	c.2422G>A	c.(2422-2424)Ggc>Agc	p.G808S	EMR1_ENST00000381407.5_Missense_Mutation_p.G667S|EMR1_ENST00000450315.3_Missense_Mutation_p.G631S|EMR1_ENST00000250572.8_Missense_Mutation_p.G743S|EMR1_ENST00000381404.4_Missense_Mutation_p.G789S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	808					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					CTTCATCCTGGGCTGCTCCTG	0.547000													5	151					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47244416	47244416	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47244416C>T	ENST00000371941.3	-	38	4874	c.4852G>A	c.(4852-4854)Gac>Aac	p.D1618N	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1618					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGCATGATGTCCGTGGCCTGC	0.677000													18	31					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206744	6206744	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6206744G>A	ENST00000262450.3	-	10	1670	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	524	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCACCCAGGAGCAATGCCA	0.657000													26	49					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144801589	144801589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:144801589C>T	ENST00000358615.4	-	2	162	c.111G>A	c.(109-111)aaG>aaA	p.K37K	GYPE_ENST00000437468.2_Silent_p.K37K	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	37						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					AGATGTAACTCTTTGTGACTG	0.383000													29	130					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58999839	58999839	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:58999839G>A	ENST00000371226.3	-	4	1007	c.894C>T	c.(892-894)ttC>ttT	p.F298F	OMA1_ENST00000358603.2_Silent_p.F298F|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	298					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTGGAAGCACGAAGGCATTAA	0.318000													30	43					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217722	53217722	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53217722G>A	ENST00000330553.5	-	6	1129	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	365	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTGCGGGTGAGCTCAGCAA	0.617000													34	57					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059912	59059912	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:59059912C>T	ENST00000253024.5	+	9	1565	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	TRIM28_ENST00000341753.6_Missense_Mutation_p.P344S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	426					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATGGCCCCTCCAAGAGCCCC	0.612000													42	130					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73580765	73580765	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:73580765C>T	ENST00000339362.5	+	25	3969	c.3522C>T	c.(3520-3522)ccC>ccT	p.P1174P	NEO1_ENST00000560262.1_Silent_p.P1174P|NEO1_ENST00000261908.6_Silent_p.P1174P|NEO1_ENST00000558964.1_Silent_p.P1163P			Q92859	NEO1_HUMAN	neogenin 1	1174					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGCTGAAACCCATTGATAAGT	0.448000													12	88					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061048	6061048	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6061048C>T	ENST00000261405.5	-	50	8371	c.8115_splice	c.e50-1	p.G2706_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2706					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATAATTTTACCCTAAGAAAA	0.453000													34	56					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676879	2676879	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:2676879T>G	ENST00000399655.1	+	13	2079	c.1814T>G	c.(1813-1815)cTg>cGg	p.L605R	CACNA1C_ENST00000399644.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L630R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L605R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L605R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L605R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	605					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGACCATCCTGGTGGAGACC	0.587000													12	20					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985116	140985116	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140985116C>T	ENST00000298296.1	+	7	1572	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	MAGEC3_ENST00000443323.2_Silent_p.F146F|MAGEC3_ENST00000409007.1_Silent_p.F226F|MAGEC3_ENST00000544766.1_Silent_p.F226F|MAGEC3_ENST00000536088.1_Silent_p.F226F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	524	MAGE 2.							p.F524L(2)|p.F226L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCCTATTTCTTTGAAGACA	0.448000													26	95					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105953688	105953688	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105953688C>T	ENST00000357060.3	-	11	1493	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	WDR96_ENST00000369720.1_Missense_Mutation_p.D391N|WDR96_ENST00000278064.2_Missense_Mutation_p.D391N|WDR96_ENST00000428666.1_Missense_Mutation_p.D461N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	460										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						GATTCCTTATCATATACGCTG	0.557000													35	68					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83328333	83328333	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83328333C>T	ENST00000261722.3	-	26	3435	c.3228G>A	c.(3226-3228)gtG>gtA	p.V1076V	AP3B2_ENST00000535348.1_Silent_p.V1044V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.V1095V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1076					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGCCTGTATCACATCCTTTA	0.542000													30	56					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49703299	49703299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49703299C>T	ENST00000433368.2	-	4	333	c.264G>A	c.(262-264)tgG>tgA	p.W88*	CRISP3_ENST00000393666.1_Nonsense_Mutation_p.W65*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.W78*|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.W96*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	65					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTCTTTGTTCCATTCCTGAA	0.378000													73	113					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145537806	145537806	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145537806C>T	ENST00000369304.3	+	21	2819	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	ITGA10_ENST00000539363.1_Missense_Mutation_p.P739S|ITGA10_ENST00000538811.1_Missense_Mutation_p.P751S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	882					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGGGGCATCCTGTCTTCCA	0.592000													45	103					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193049153	193049153	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:193049153C>T	ENST00000409056.3	-	3	338	c.339G>A	c.(337-339)gaG>gaA	p.E113E	TMEFF2_ENST00000392314.1_Silent_p.E113E|TMEFF2_ENST00000272771.5_Silent_p.E113E			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	113	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GCAGGTAACACTCATTCTGGT	0.468000													81	23					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127251023	127251023	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:127251023G>A	ENST00000378740.2	-	10	929	c.906C>T	c.(904-906)ctC>ctT	p.L302L	PAX4_ENST00000341640.2_3'UTR|PAX4_ENST00000463946.1_3'UTR|PAX4_ENST00000338516.3_3'UTR			O43316	PAX4_HUMAN	paired box 4	310	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCACAGGAAGGAGGAAGGAGC	0.562000													4	8					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89984947	89984947	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:89984947G>A	ENST00000428670.3	-	21	3933	c.3477C>T	c.(3475-3477)atC>atT	p.I1159I	ATP2B1_ENST00000261173.2_Silent_p.I1159I|ATP2B1_ENST00000393164.2_Silent_p.I902I|ATP2B1_ENST00000348959.3_Silent_p.I1123I|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1197					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAATAAGGGGGATATGAGGCT	0.413000													37	126					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263295	248263295	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248263295C>T	ENST00000366478.2	+	3	955	c.618C>T	c.(616-618)ctC>ctT	p.L206L	OR2L13_ENST00000358120.2_Silent_p.L206L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTCTTTCTCCTTTTCCCTT	0.443000													8	160					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085504	9085504	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9085504C>T	ENST00000397910.4	-	1	6514	c.6311G>A	c.(6310-6312)aGa>aAa	p.R2104K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2104	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGATTTCTTTGCTTAGC	0.502000													97	184					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16639015	16639015	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16639015G>A	ENST00000546361.2	-	9	1332	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P405L	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	394	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GACCCCTCCTGGAGCTTCGTA	0.637000													65	135					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101442850	101442850	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101442850G>A	ENST00000554693.2	+	0	548				SNORD114-19_ENST00000363072.1_RNA																							TATGAATCTTGGATAATGGAT	0.308000													38	66					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959305	120959305	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120959305G>A	ENST00000273666.6	+	14	1622	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	STXBP5L_ENST00000472879.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G451R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	451					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)		AATCAGTGGAGGAGCTTGGAA	0.303000													14	35					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32814904	32814904	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32814904G>A	ENST00000354258.4	-	10	2322	c.2161C>T	c.(2161-2163)Ccg>Tcg	p.P721S	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P460S	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	721	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGTACACACGGTTTCCGGATC	0.562000													27	128					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305534	46305534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46305534G>A	ENST00000510861.1	-	8	972	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	GABRA2_ENST00000381620.4_Missense_Mutation_p.L267F|GABRA2_ENST00000507069.1_Missense_Mutation_p.L267F|GABRA2_ENST00000356504.1_Missense_Mutation_p.L267F|GABRA2_ENST00000514090.1_Missense_Mutation_p.L267F|GABRA2_ENST00000540012.1_Missense_Mutation_p.L212F|GABRA2_ENST00000515082.1_Missense_Mutation_p.L267F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	267					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGGGAGAGAATGACAGTC	0.393000													45	97					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172414217	172414217	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:172414217C>T	ENST00000367727.4	+	2	224	c.26C>T	c.(25-27)tCt>tTt	p.S9F		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	9										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTCTAGGCTTCTGTTCCAAAA	0.423000													51	38					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558190	159558190	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159558190G>A	ENST00000255040.2	+	2	461	c.364G>A	c.(364-366)Ggt>Agt	p.G122S		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	122	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTCCTCATCAGGTATTGCTGA	0.463000													53	85					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31602740	31602740	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:31602740C>T	ENST00000379416.3	-	13	1283	c.1235G>A	c.(1234-1236)aGc>aAc	p.S412N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	412	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CACCTCCCTGCTGTAGGGGAT	0.527000													53	100					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181479640	181479640	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:181479640C>T	ENST00000526775.1	+	2	459	c.294C>T	c.(292-294)acC>acT	p.T98T	CACNA1E_ENST00000367570.1_Silent_p.T98T|CACNA1E_ENST00000358338.5_Silent_p.T49T|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.T49T|CACNA1E_ENST00000367573.2_Silent_p.T98T|CACNA1E_ENST00000360108.3_Silent_p.T98T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	98					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTGGCCACCATCATTGCCA	0.537000													22	53					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487471	26487471	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:26487471C>T	ENST00000295589.3	-	3	608	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	138					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CACCATATCTCTCTAGAGATA	0.458000													14	48					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532484	71532484	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:71532484C>T	ENST00000265382.3	+	9	1097	c.792C>T	c.(790-792)atC>atT	p.I264I	PIP5K1B_ENST00000541509.1_Silent_p.I264I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	264	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCTTCAAGATCATGGATTATA	0.458000													46	479					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135567151	135567151	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135567151A>G	ENST00000513104.1	-	8	2213	c.1931T>C	c.(1930-1932)tTc>tCc	p.F644S	TRPC7_ENST00000355180.3_Missense_Mutation_p.F583S|TRPC7_ENST00000426057.2_Missense_Mutation_p.F528S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	644					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTCTCGATGAATTTGTGGTC	0.403000													7	26					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127826524	127826524	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:127826524C>T	ENST00000316724.5	-	6	906	c.495G>A	c.(493-495)aaG>aaA	p.K165K	BIN1_ENST00000409400.1_Silent_p.K165K|BIN1_ENST00000393041.3_Silent_p.K165K|BIN1_ENST00000346226.3_Silent_p.K165K|BIN1_ENST00000352848.3_Silent_p.K165K|BIN1_ENST00000376113.2_Silent_p.K165K|BIN1_ENST00000393040.3_Silent_p.K165K|BIN1_ENST00000357970.3_Silent_p.K165K|BIN1_ENST00000259238.4_Silent_p.K165K|BIN1_ENST00000348750.4_Silent_p.K165K|BIN1_ENST00000351659.3_Silent_p.K165K	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	165	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCATCCTTCTTTTTGGCAG	0.627000													36	86					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765423	113765423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113765423G>A	ENST00000259211.6	+	4	690	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	93					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AGGATATAATGGATTTGTACA	0.473000													40	102					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643029	1643029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1643029C>T	ENST00000399682.1	-	1	339	c.295G>A	c.(295-297)Ggg>Agg	p.G99R		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	99	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCCCCCTTGGAACCC	0.682000													36	91					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797310	38797310	+	Missense_Mutation	SNP	G	G	A	rs142235256	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38797310G>A	ENST00000449082.2	-	10	1429	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	477					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATCAGAGCGGGGTGATTTGTT	0.483000													54	130					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051154	44051154	+	Nonsense_Mutation	SNP	G	G	A	rs119479065		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:44051154G>A	ENST00000543989.1	-	5	1742	c.37C>T	c.(37-39)Cga>Tga	p.R13*	ABCG5_ENST00000405322.1_Nonsense_Mutation_p.R237*|ABCG5_ENST00000260645.1_Nonsense_Mutation_p.R408*			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	408					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R408R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACATTGCTTCGGACCCGCAGA	0.507000													30	87					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40705685	40705685	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:40705685G>A	ENST00000356699.5	+	4	3371	c.3342G>A	c.(3340-3342)agG>agA	p.R1114R	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		AGAAGTTTAGGAAGCCCAACT	0.478000													177	313					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766544	77766544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77766544C>T	ENST00000521891.2	+	10	7835	c.7387C>T	c.(7387-7389)Ccc>Tcc	p.P2463S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2418S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2418S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2437S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2418						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGAAGACCTCCCTCGGCCTC	0.542000										HNSCC(33;0.089)			14	25					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245847	166245847	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166245847T>C	ENST00000375437.2	+	27	5821	c.5531T>C	c.(5530-5532)cTg>cCg	p.L1844P	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1844P|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1844P|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1844P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1844					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCATGGATCTGCCCATGGTG	0.458000													11	180					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76456250	76456250	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76456250C>T	ENST00000389840.5	-	59	9511	c.9387G>A	c.(9385-9387)ctG>ctA	p.L3129L	DNAH17_ENST00000585328.1_Silent_p.L3138L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTACCTTATTCAGAGTGTCCA	0.587000													4	23					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111063	114111063	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:114111063G>A	ENST00000297405.5	-	5	1083	c.839C>T	c.(838-840)tCa>tTa	p.S280L	CSMD3_ENST00000352409.3_Missense_Mutation_p.S280L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S240L|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S280L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	280	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATATGAGTGAAATTGTGTC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	56					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991205	70991205	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70991205G>A	ENST00000256389.3	-	2	664	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	90					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTGTGTAGGTGAACACAGGAA	0.532000													36	73					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221589	63221589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:63221589C>T	ENST00000449996.3	+	18	1940	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	RGS9_ENST00000443584.3_Missense_Mutation_p.S623F|RGS9_ENST00000262406.9_Missense_Mutation_p.S626F	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	626					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGATTGAAATCCAAGAGAGTA	0.597000													5	177					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336159	124336159	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124336159C>T	ENST00000338354.3	+	7	634	c.528C>T	c.(526-528)tcC>tcT	p.S176S	DMBT1_ENST00000368955.3_Silent_p.S176S|DMBT1_ENST00000344338.3_Silent_p.S176S|DMBT1_ENST00000359586.6_Silent_p.S176S|DMBT1_ENST00000368909.3_Silent_p.S176S|DMBT1_ENST00000330163.4_Silent_p.S176S|DMBT1_ENST00000368956.2_Silent_p.S176S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	176	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACACGAATCCTACCTGTGGA	0.577000													66	119					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46871962	46871962	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46871962C>T	ENST00000447340.1	-	3	349	c.296G>A	c.(295-297)gGc>gAc	p.G99D	PRSS42_ENST00000429665.1_Missense_Mutation_p.A272T			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	0	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						TATTCACAGGCCAAGCGGCCC	0.473000													8	12					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2820090C>T	ENST00000602557.1	-	62	10084	c.9529G>A	c.(9529-9531)Gaa>Aaa	p.E3177K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E3000K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3176K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3000K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2999K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E3177K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3177	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGAAGACTTCGGACTTATAG	0.522000													17	46					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45555945	45555945	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45555945C>T	ENST00000291577.6	+	3	291	c.198C>T	c.(196-198)atC>atT	p.I66I	C21orf33_ENST00000427803.2_Silent_p.I66I|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.I66I	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	66						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGTGCAGGATCCTGGTGCACC	0.517000													15	29					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931613	169931613	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:169931613A>G	ENST00000328939.4	+	1	574	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Missense_Mutation_p.T13A|KCNIP1_ENST00000411494.1_Missense_Mutation_p.T13A|KCNIP1_ENST00000434108.1_Missense_Mutation_p.T13A	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	13					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCTGCAAACCAAACAAAG	0.622000													30	87					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116279900	116279900	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116279900C>T	ENST00000374140.2	+	17	1963	c.1754C>T	c.(1753-1755)gCc>gTc	p.A585V	RGS3_ENST00000317613.6_Missense_Mutation_p.A473V|RGS3_ENST00000343817.5_Missense_Mutation_p.A304V|RGS3_ENST00000374136.1_Missense_Mutation_p.A211V|RGS3_ENST00000350696.5_Missense_Mutation_p.A585V|RGS3_ENST00000394646.3_Missense_Mutation_p.A304V	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	585				A -> V (in Ref. 2; AAM33255).	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AACAAGGCTGCCGAGGTAAGA	0.527000													30	81					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234344536	234344536	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234344536C>T	ENST00000264057.2	+	6	671	c.659C>T	c.(658-660)tCg>tTg	p.S220L	DGKD_ENST00000409813.3_Missense_Mutation_p.S176L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	220					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACACTGGCCTCGATCGGGAAG	0.557000													35	70					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792953	44792953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44792953G>A	ENST00000291182.4	-	5	737	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GTCAACATATGGAGCAAATAT	0.328000													6	126					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493405	20493405	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20493405C>A	ENST00000504154.1	+	9	1049	c.797C>A	c.(796-798)cCt>cAt	p.P266H	SLIT2_ENST00000273739.5_Missense_Mutation_p.P270H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P266H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P270H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	266	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTATGGCTCCTTCTTGTAGT	0.403000													55	134					7.91745e-34	8.01269e-34	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158517141	158517141	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:158517141G>A	ENST00000355585.4	+	27	4311	c.4236G>A	c.(4234-4236)caG>caA	p.Q1412Q	SYNJ2_ENST00000367112.1_Silent_p.Q497Q|SYNJ2_ENST00000367122.2_Silent_p.Q1367Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1412							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGATTATCAGGACCCCTTCT	0.517000													61	116					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59347928	59347928	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59347928C>T	ENST00000348370.4	+	4	1488	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	RNF111_ENST00000559209.1_Missense_Mutation_p.S352F|RNF111_ENST00000561186.1_Missense_Mutation_p.S352F|RNF111_ENST00000434298.1_Missense_Mutation_p.S352F|RNF111_ENST00000557998.1_Missense_Mutation_p.S352F	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	352	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGCCAGGGTTCCAGTTCTCAT	0.433000													13	33					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734917	140734917	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140734917G>A	ENST00000571252.1	+	1	150	c.150G>A	c.(148-150)aaG>aaA	p.K50K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCGCCAAGGACCTGGGGT	0.637000													41	130					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815942	55815942	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55815942G>A	ENST00000309383.1	+	14	1648	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	BRSK1_ENST00000326848.7_Silent_p.P152P|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Silent_p.P473P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	457					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTTTTCACCGGAGCCGGGGG	0.657000													6	12					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144843287	144843287	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:144843287T>A	ENST00000367545.3	+	39	5713	c.5713T>A	c.(5713-5715)Ttt>Att	p.F1905I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1905					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACTTCTCTTTTCAGGAAGA	0.378000													16	147					0	0	1	0	0
AL132709.8	0	broad.mit.edu	37	14	101431161	101431161	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101431161G>A	ENST00000423708.3	+	0	736																											CTTATACAGTGAATACATGTT	0.353000													14	46					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906892	164906892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:164906892C>T	ENST00000475390.1	-	2	2170	c.1727G>A	c.(1726-1728)tGg>tAg	p.W576*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.W576*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	576	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTTCGATCCACTGTTTAAA	0.527000										HNSCC(40;0.11)			44	89					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56720625	56720625	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56720625G>A	ENST00000425394.2	-	7	1414	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	PAN2_ENST00000548043.1_Silent_p.A346A|PAN2_ENST00000440411.3_Silent_p.A346A|PAN2_ENST00000257931.5_Silent_p.A346A	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.A346A(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AATCCCCAAAGGCCAGAGCCT	0.562000													61	179					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599203	28599203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:28599203C>T	ENST00000253063.3	+	5	970	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	217					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGGCATCCTCCCTGAGGG	0.642000													52	89					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357154	13357154	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:13357154C>T	ENST00000276297.4	-	2	836	c.427G>A	c.(427-429)Gga>Aga	p.G143R	DLC1_ENST00000511869.1_Missense_Mutation_p.G143R|DLC1_ENST00000316609.5_Missense_Mutation_p.G143R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	143					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGCCTGCTCCTTGGATCATA	0.408000													87	227					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575685	22575685	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22575685C>T	ENST00000357774.5	-	4	473	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTAAATTTTCACGTCCACAT	0.338000													17	16					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004389	101004389	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101004389C>T	ENST00000556751.1	-	5	4911	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	BEGAIN_ENST00000355173.2_Missense_Mutation_p.A567T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A567T			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	567						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGCGGAAAGGCCTGCTGGGGG	0.687000													13	31					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421209	12421209	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12421209C>T	ENST00000397026.2	+	4	406	c.23C>T	c.(22-24)aCc>aTc	p.T8I	PPARG_ENST00000397010.2_Missense_Mutation_p.T2I|PPARG_ENST00000397012.2_Missense_Mutation_p.T2I|PPARG_ENST00000397015.2_Missense_Mutation_p.T2I|PPARG_ENST00000397000.1_Missense_Mutation_p.T2I|PPARG_ENST00000539812.1_5'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T2I|PPARG_ENST00000287820.6_Missense_Mutation_p.T30I			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	30					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TCAGAAATGACCATGGTTGAC	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						31	61					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423980	88423980	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88423980G>A	ENST00000297203.2	-	2	462	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	93										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATGGAAGTGGGATAGATGAGC	0.383000													8	112					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48214667	48214667	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48214667G>A	ENST00000298396.2	-	2	70	c.18C>T	c.(16-18)acC>acT	p.T6T	SSX3_ENST00000376893.3_Silent_p.T6T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TCCTTGCAAAGGTGTCATCTC	0.522000													76	39					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79959124	79959124	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79959124G>A	ENST00000360280.3	+	51	7342	c.7082G>A	c.(7081-7083)aGg>aAg	p.R2361K	VPS13A_ENST00000357409.5_Missense_Mutation_p.R2361K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R2322K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R2361K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2361					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAGTCGAAAGGAGTGAAGAT	0.303000													62	91					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038661	75038661	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75038661C>T	ENST00000326665.5	-	14	2951	c.2733G>A	c.(2731-2733)ctG>ctA	p.L911L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	911	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTCCAAGTTCAGGGCTGCTG	0.542000													92	207					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110308654	110308654	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110308654C>T	ENST00000239690.4	-	3	792	c.418G>A	c.(418-420)Gga>Aga	p.G140R	NUDCD1_ENST00000427660.2_Missense_Mutation_p.G111R	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	140										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCACCTGTTCCAATGACATAC	0.413000													6	208					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135584	55135584	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55135584G>A	ENST00000314706.3	+	1	225	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATCATAGTGACCATCATGG	0.438000													42	116					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198853	20198853	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20198853G>A	ENST00000400331.5	-	5	1439	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	MACC1_ENST00000332878.4_Silent_p.P377P|MACC1_ENST00000589011.1_Silent_p.P377P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	377					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.P377P(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGATATATTTGGGTCCATAAA	0.393000													17	53					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31205192	31205192	+	Missense_Mutation	SNP	C	C	T	rs141598959		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:31205192C>T	ENST00000255304.4	+	4	791	c.449C>T	c.(448-450)tCg>tTg	p.S150L	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	150					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACGAAACCTCGTCAAACTTA	0.378000													26	74					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451538	138451538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138451538C>T	ENST00000344876.4	-	1	2091	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E349K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E569K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	569	Cadherin 5.				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)					TTGTCATTTTCGTCAATGATG	0.458000													89	146					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247615282	247615282	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247615282C>T	ENST00000318749.6	-	1	26	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCACTTTTCATGTTGCGGC	0.473000													31	68					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53133465	53133465	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:53133465G>A	ENST00000607203.1	-	1	4	c.5C>T	c.(4-6)tCc>tTc	p.S2F	RFT1_ENST00000296292.3_Silent_p.L380L|RFT1_ENST00000394738.3_Silent_p.L341L																							TGGCAAGCAGGAGAACATAGA	0.488000													25	62					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134967345	134967345	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:134967345C>T	ENST00000398015.3	+	14	3054	c.2684C>T	c.(2683-2685)aCc>aTc	p.T895I	EPHB1_ENST00000493838.1_Missense_Mutation_p.T456I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	895						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCAACCATCACCGCCGTGTGA	0.527000													15	21					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557335	40557335	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40557335C>T	ENST00000357037.5	-	2	962	c.543G>A	c.(541-543)aaG>aaA	p.K181K		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	181					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGCCCTCCTTCTCTGGCA	0.622000													94	231					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55038497	55038497	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55038497C>T	ENST00000293371.6	-	5	522	c.333G>A	c.(331-333)taG>taA	p.*111*	DCD_ENST00000456047.2_3'UTR	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	0					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CTCCTTACAGCTATAGTACTG	0.398000													9	42					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121436464	121436464	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:121436464T>C	ENST00000369085.3	+	4	1704	c.1398T>C	c.(1396-1398)gaT>gaC	p.D466D		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	466	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TGGCCCTGGATTCAGTGGACC	0.517000													25	45					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344876	5344876	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5344876G>A	ENST00000328813.2	-	1	706	c.652C>T	c.(652-654)Cta>Tta	p.L218L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAGAATTAGAATATAGGAG	0.378000													13	24					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981980	63981980	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:63981980C>T	ENST00000398590.3	+	12	3035	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	ATXN7_ENST00000295900.6_Missense_Mutation_p.P828S|ATXN7_ENST00000484332.1_Missense_Mutation_p.P683S|ATXN7_ENST00000538065.1_Missense_Mutation_p.P828S|ATXN7_ENST00000487717.1_Missense_Mutation_p.P828S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	828	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CTCACACACTCCTCTAGACAA	0.493000													22	73					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515522	64515522	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:64515522G>A	ENST00000371079.1	+	3	698	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	ROR1_ENST00000371080.1_Missense_Mutation_p.R108Q|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	108	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CTCTCCTTTCGGTCCACCATC	0.562000													65	133					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12462840	12462840	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12462840G>A	ENST00000242804.4	-	5	832	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	ZNF442_ENST00000438182.1_Missense_Mutation_p.P15S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTCCTCCTGGGATTTCTGTGC	0.353000													26	82					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425425	143425425	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143425425G>A	ENST00000524325.1	-	4	822	c.647C>T	c.(646-648)cCc>cTc	p.P216L	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.P216L|TSNARE1_ENST00000307180.3_Missense_Mutation_p.P216L			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	216					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGGGCCTGGGGCTTGCCGGA	0.701000													8	73					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191092902	191092902	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:191092902C>A	ENST00000392456.3	+	6	1090	c.500C>A	c.(499-501)cCt>cAt	p.P167H	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	163						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TTCTCAAGACCTTGTAGACTC	0.443000													18	52					0.00074312	0.000744954	1	1	0
MUC16	94025	broad.mit.edu	37	19	9057851	9057851	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9057851C>T	ENST00000397910.4	-	3	29798	c.29595G>A	c.(29593-29595)agG>agA	p.R9865R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9867	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCGGAATCCTCCTAGTCTCAG	0.473000													39	105					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141055395	141055395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141055395C>T	ENST00000389484.3	-	84	13920	c.12949G>A	c.(12949-12951)Gga>Aga	p.G4317R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4317	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4317*(1)		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)		CATCTGTCTCCGGTGTATTCC	0.453000										TSP Lung(27;0.18)			104	235					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712018	47712018	+	Missense_Mutation	SNP	G	G	A	rs149946635		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47712018G>A	ENST00000525123.1	-	10	1526	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	AGBL2_ENST00000528244.1_Missense_Mutation_p.P376L|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P414L|AGBL2_ENST00000298861.4_Missense_Mutation_p.P414L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	414					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGACTGGATAGGGTTGTTTGC	0.463000													46	94					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135107097	135107097	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135107097G>A	ENST00000368563.2	-	6	1149	c.793C>T	c.(793-795)Cca>Tca	p.P265S	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P135S|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P293S|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P265S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	265					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCGGCCACTGGGAGGATCCTG	0.672000													6	5					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483565	59483565	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:59483565G>A	ENST00000312828.3	-	2	1231	c.132C>T	c.(130-132)acC>acT	p.T44T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	44					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)				CCTTCTGGCTGGTCCTCATCT	0.627000													34	54					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33647326	33647326	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33647326C>T	ENST00000361680.2	+	7	953	c.875C>T	c.(874-876)tCc>tTc	p.S292F	WDR88_ENST00000355868.3_Missense_Mutation_p.S292F			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	292										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TGTACAAGCTCCTGGGATAAA	0.478000													12	156					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23235899C>A	ENST00000285848.5	+	1	169	c.169C>A	c.(169-171)Ctt>Att	p.L57I	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													7	241					5.18039e-06	5.19893e-06	1	1	0
MED14	9282	broad.mit.edu	37	X	40539331	40539331	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:40539331G>A	ENST00000324817.1	-	21	2783	c.2665C>T	c.(2665-2667)Ccg>Tcg	p.P889S	MED14_ENST00000496531.1_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	889					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAACATCGGCACAGTGGGG	0.483000													21	29					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593140	137593140	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:137593140C>T	ENST00000371817.3	+	4	1029	c.615C>T	c.(613-615)atC>atT	p.I205I	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	205	Laminin G-like.|TSP N-terminal.				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)		ATGGCATCATCGTGTTTGGCA	0.552000													19	29					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117037464	117037464	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117037464C>T	ENST00000368564.1	+	8	887	c.739C>T	c.(739-741)Cct>Tct	p.P247S	KPNA5_ENST00000356348.1_Missense_Mutation_p.P247S			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	244					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CAAAAACCCTCCTCCAAACTT	0.318000													18	46					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226197	152226197	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:152226197A>T	ENST00000447306.1	+	2	1121	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PNMA3_ENST00000370265.4_Missense_Mutation_p.E262V|PNMA3_ENST00000370264.4_Missense_Mutation_p.E262V	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	262					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gaggcaggagagaaagtatct	0.493000													62	72					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174521	112174521	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:112174521T>A	ENST00000457016.1	+	16	3610	c.3230T>A	c.(3229-3231)gTt>gAt	p.V1077D	APC_ENST00000257430.4_Missense_Mutation_p.V1077D|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V1077D			P25054	APC_HUMAN	adenomatous polyposis coli	1077	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTTATCCTGTTTATACTGAG	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	62					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98405304	98405304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98405304G>A	ENST00000339364.5	-	8	1420	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S256L|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	434						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGGGTTGAGCGAGCATTTCAT	0.532000													29	70					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003193	50003193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:50003193G>A	ENST00000335238.4	-	1	878	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTAGACCACGGGATTTAACAT	0.393000													19	49					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012262	67012262	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67012262C>T	ENST00000276570.5	+	6	883	c.596C>T	c.(595-597)tCt>tTt	p.S199F	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	199					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGCACAGACTCTTGATATTGA	0.448000													20	36					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169300626	169300626	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169300626C>T	ENST00000511577.1	-	32	4498	c.4251G>A	c.(4249-4251)aaG>aaA	p.K1417K	DDX60L_ENST00000260184.7_Silent_p.K1417K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1417							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGCAAATTTCTTTGGATTAC	0.318000													11	20					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491522	228491522	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228491522C>T	ENST00000570156.2	+	52	13959	c.13885C>T	c.(13885-13887)Ctg>Ttg	p.L4629L	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.L1319L|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3672	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGATATAGCCTGAGGCAGGA	0.617000													53	147					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421986	115421986	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:115421986C>T	ENST00000337530.6	+	4	2084	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	KIAA1958_ENST00000536272.1_Silent_p.A624A	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	596										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTACTTTGCCCGGACGGACA	0.582000													17	65					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5487140	5487140	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5487140C>T	ENST00000345221.3	-	1	692	c.138G>A	c.(136-138)gaG>gaA	p.E46E	NLRP1_ENST00000262467.5_Silent_p.E46E|NLRP1_ENST00000269280.4_Silent_p.E46E|NLRP1_ENST00000354411.3_Silent_p.E46E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.E46E|NLRP1_ENST00000572272.1_Silent_p.E46E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	46	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			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)				CACTCGTCTTCTCTGGCTGAG	0.607000													5	6					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574942	57574942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57574942C>T	ENST00000243077.3	+	34	5996	c.5530C>T	c.(5530-5532)Cat>Tat	p.H1844Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1844					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCCCAGACCATAAGGGCAC	0.622000													48	91					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170717	113170717	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113170717G>A	ENST00000401783.2	-	38	7499	c.7163C>T	c.(7162-7164)tCc>tTc	p.S2388F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2388	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACCAAAGGAAATTAGGGG	0.458000													18	52					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59949656	59949656	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:59949656T>C	ENST00000444766.3	-	20	2847	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E	INTS2_ENST00000251334.6_Silent_p.E916E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	924					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTTTCAATTCTTCCCTGGTAA	0.383000													5	80					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748050	25748050	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:25748050C>T	ENST00000586223.1	+	0	437					NR_033892.1																						CAGAGCCAGTCCTTTCTGGGG	0.607000													4	6					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691574	41691574	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41691574C>T	ENST00000313860.7	+	25	3099	c.3045C>T	c.(3043-3045)tcC>tcT	p.S1015S	LIMCH1_ENST00000503057.1_Silent_p.S1399S|LIMCH1_ENST00000396595.3_Silent_p.S834S|LIMCH1_ENST00000509277.1_Silent_p.S848S|LIMCH1_ENST00000514096.1_Silent_p.S829S|LIMCH1_ENST00000512946.1_Silent_p.S989S|LIMCH1_ENST00000512632.1_Silent_p.S912S|LIMCH1_ENST00000381753.4_Silent_p.S822S|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000511496.1_Silent_p.S829S|LIMCH1_ENST00000513024.1_Silent_p.S842S|LIMCH1_ENST00000508501.1_Silent_p.S988S|LIMCH1_ENST00000512820.1_Silent_p.S1001S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1015	LIM zinc-binding.				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						TGTGCTCTTCCTGTGGGCTTC	0.398000													5	103					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335801	140335801	+	Missense_Mutation	SNP	G	G	A	rs142265470		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140335801G>A	ENST00000358993.2	-	2	181	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	48						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TAGTATGGTCGAGGACTCAGA	0.517000													24	118					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501809	136501809	+	Missense_Mutation	SNP	G	G	A	rs148244950		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136501809G>A	ENST00000393056.2	+	1	328	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	106	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCTCTGGACCGATGGGGACAC	0.612000													24	36					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701692	8701692	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8701692G>A	ENST00000329805.4	-	1	975	c.747C>T	c.(745-747)tcC>tcT	p.S249S		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	249						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CGGACCCCAAGGAGAGGATAA	0.582000													20	160					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059924	9059924	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9059924C>T	ENST00000397910.4	-	3	27725	c.27522G>A	c.(27520-27522)gtG>gtA	p.V9174V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9176	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTGATGTCACAGGAAGCG	0.517000													22	64					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177374	170177374	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170177374G>A	ENST00000263816.3	-	2	385	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	LRP2_ENST00000443831.1_Missense_Mutation_p.R34C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCCACAGCGAAAATGCGCA	0.413000													43	102					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351353	124351353	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124351353C>T	ENST00000360013.3	+	35	5390	c.5263C>T	c.(5263-5265)Cac>Tac	p.H1755Y	KALRN_ENST00000428018.2_Missense_Mutation_p.H58Y|KALRN_ENST00000393496.1_Missense_Mutation_p.H128Y|KALRN_ENST00000291478.4_Missense_Mutation_p.H58Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1755					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAACTCCATCCACAGTTCCCC	0.567000													39	73					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10227460	10227460	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10227460G>A	ENST00000418404.3	-	22	2976	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	MYH13_ENST00000252172.4_Missense_Mutation_p.S938F|MYH13_ENST00000570743.1_Missense_Mutation_p.S938F|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	938					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACCAATTCAGAATTCATCTC	0.458000													33	76					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231177390	231177390	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231177390G>A	ENST00000392045.3	+	27	2709	c.2595G>A	c.(2593-2595)ggG>ggA	p.G865G	SP140_ENST00000343805.6_Silent_p.G805G|SP140_ENST00000350136.5_Silent_p.G734G|SP140_ENST00000420434.3_Silent_p.G838G|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Silent_p.G751G	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	865					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACAAATGGGAACAATTGAC	0.413000													40	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089257	9089257	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9089257G>C	ENST00000397910.4	-	1	2761	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	853	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						GGAAGGAGTAGATGAAGAAAA	0.458000													37	75					0	0	1	0	0
HYKK	123688	broad.mit.edu	37	15	78825912	78825912	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78825912G>A	ENST00000388988.4	+	5	1135	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	HYKK_ENST00000569878.1_Missense_Mutation_p.G341E|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000408962.2_Intron	NM_001013619.2	NP_001013641.2			hydroxylysine kinase																		GCAAAAACCGGGTGGAAACAC	0.428000													43	98					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859403	151859403	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151859403G>A	ENST00000355193.2	-	43	11477	c.11259C>T	c.(11257-11259)gtC>gtT	p.V3753V	KMT2C_ENST00000262189.6_Silent_p.V3753V					lysine (K)-specific methyltransferase 2C																		GTGCTGAGGAGACAGGACAGG	0.498000													29	168					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91803625	91803625	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91803625G>A	ENST00000394232.1	+	6	1464	c.994G>A	c.(994-996)Gag>Aag	p.E332K	SV2B_ENST00000545111.2_Missense_Mutation_p.E181K|SV2B_ENST00000330276.4_Missense_Mutation_p.E332K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	332					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGGACCCCAGAGAAAGTGTT	0.458000													35	94					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183998	197183998	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:197183998C>T	ENST00000260983.2	-	9	1798	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	HECW2_ENST00000409111.1_Missense_Mutation_p.S183N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	539					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGTAAGGAGCTCTCTGCAAG	0.562000													35	72					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633189	32633189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:32633189C>T	ENST00000242310.4	-	1	2478	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	797					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACAAAAATATCCACTAATTCC	0.418000													65	61					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478510	35478510	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:35478510G>A	ENST00000308700.6	+	2	1181		c.e2-1		ISX_ENST00000404699.2_Splice_Site	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTCCCATGCAGAAGGAAGGAA	0.552000													33	121					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115639336	115639336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115639336C>T	ENST00000369301.3	+	4	1003	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	264					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTTTAGGACCCAACCCTGGA	0.308000													5	60					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4277385	4277385	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4277385G>A	ENST00000404826.2	+	42	6238	c.6099G>A	c.(6097-6099)ggG>ggA	p.G2033G	SDK1_ENST00000389531.3_Silent_p.G2013G|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2033					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCTGCACGGGCAGAATAAGA	0.572000													36	76					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84240540	84240540	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:84240540G>A	ENST00000405413.2	-	4	592	c.456C>T	c.(454-456)ctC>ctT	p.L152L	HPSE_ENST00000311412.5_Silent_p.L152L|HPSE_ENST00000513463.1_Silent_p.L152L|HPSE_ENST00000512196.1_Silent_p.L152L	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	152					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AGTGTTCTCGGAGTAGCAATT	0.443000													5	176					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929																											CGCGTGGGAACGAGAAGACAC	0.562000													3	31					0	0	1	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727328	25727328	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25727328G>A	ENST00000274764.2	+	1	192	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	64					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TGAGCATTATGAATTCCTTCG	0.463000													48	123					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32617854	32617854	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32617854C>T	ENST00000286827.3	-	7	2005	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	TIAM1_ENST00000541036.1_Missense_Mutation_p.D512N|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	512	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGACAAAGTCCTTCTTGGGG	0.547000													18	55					0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134869	33134869	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:33134869G>A	ENST00000342462.4	-	2	1009	c.819C>T	c.(817-819)ttC>ttT	p.F273F	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.F136F|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	273						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TGCCTGTGACGAAGTAGGCAC	0.537000													36	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325372	25325372	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25325372C>T	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							TCTCGTCGAACTGAGGTCCAG	0.463000													7	247					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													21	53					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702119	27702119	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:27702119T>C	ENST00000438700.3	-	1	1178	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	354					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAGATGTTCTTAATGTTGGT	0.517000													166	314					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621496	76621496	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76621496G>A	ENST00000264917.5	+	3	577	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	PDE8B_ENST00000346042.3_Missense_Mutation_p.E178K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E158K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E178K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E178K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	178					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TAAGCATCATGAAATTATTGT	0.413000													48	82					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011005	73011005	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:73011005G>A	ENST00000313375.3	-	11	1833	c.1786C>T	c.(1786-1788)Ccc>Tcc	p.P596S	MLXIPL_ENST00000434326.1_Missense_Mutation_p.P502S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P596S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P596S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P503S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P596S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	596					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCGCTTTGGGGACAAGCAGG	0.657000													12	23					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850015	113850015	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:113850015C>T	ENST00000383673.2	-	6	1386	c.956G>A	c.(955-957)gGa>gAa	p.G319E	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.G319E|DRD3_ENST00000460779.1_Missense_Mutation_p.G319E	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	319					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGTGGCACTCCCCGAGGTTG	0.522000													56	105					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35242356	35242356	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35242356C>T	ENST00000262866.4	-	8	1121	c.699G>A	c.(697-699)gaG>gaA	p.E233E	SLA2_ENST00000360672.2_3'UTR	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	233	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAAGAGACTCCTCCCCTGTGG	0.527000													29	69					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48380879	48380879	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48380879C>T	ENST00000380518.3	-	21	1511	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	COL2A1_ENST00000337299.6_Silent_p.L380L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	449	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTTCGGGCCCAGAGGACCAG	0.612000													46	108					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356670	47356670	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47356670C>T	ENST00000399249.2	-	26	2882	c.2828G>A	c.(2827-2829)cGa>cAa	p.R943Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R942Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R943Q			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	942	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGCCCGCACTCGGAAAAGCAG	0.647000													19	47					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346829	29346829	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:29346829G>A	ENST00000558402.1	+	5	1341	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	APBA2_ENST00000558259.1_Missense_Mutation_p.A248T|APBA2_ENST00000561069.1_Missense_Mutation_p.A248T|APBA2_ENST00000411764.1_Missense_Mutation_p.A248T|APBA2_ENST00000558330.1_Missense_Mutation_p.A248T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	248	STXBP1-binding.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGCCAGTGAGGCCAGCCCCGA	0.647000													21	37					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400739	11400739	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:11400739G>A	ENST00000002596.5	-	2	2065	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	297						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAACAAGCTCGAAGAACTTCT	0.443000													47	147					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569314	11569314	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11569314C>T	ENST00000359227.3	-	4	870	c.446G>A	c.(445-447)gGc>gAc	p.G149D	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G149D	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	149	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATGATGCGGCCGTACTGGGA	0.627000													52	109					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108160017	108160017	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108160017C>T	ENST00000273353.3	-	24	2862	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	936						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCACCCTCTCCGACAGCTCC	0.488000													54	78					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156675952	156675952	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156675952C>T	ENST00000422843.3	+	16	1878	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	576	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCGGATTTCGGTTGTACAA	0.502000			T	SYK	peripheral T-cell lymphoma								24	56					0	0	1	0	0
MIR187	406963	broad.mit.edu	37	18	33484794	33484794	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:33484794C>T	ENST00000385062.1	-	0	95					NR_029616.1																						GGACCTGCGTCCCTCCGGCTG	0.642000													8	8					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141418885	141418885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141418885G>A	ENST00000397541.2	+	4	1005	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	200					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGTGTTTTACGAGAAACCAAC	0.343000													81	163					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931187	176931187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176931187G>A	ENST00000501403.2	-	6	1469	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.P430S|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	430						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGTAGATGGGACTGGTTGTG	0.682000													19	39					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570383	55570383	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55570383G>A	ENST00000373965.2	-	35	4830	c.4436C>T	c.(4435-4437)cCa>cTa	p.P1479L	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1479L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.H1496Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.H1107Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1476L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGCTGGTGGTAACAATCG	0.378000										HNSCC(58;0.16)			13	143					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046291	151046291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151046291C>T	ENST00000325602.5	-	2	572	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	185						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GGTGTTGCTTCCTTGTTGCTC	0.388000													37	60					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274540	74274540	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74274540C>T	ENST00000409262.3	+	1	1091	c.1091C>T	c.(1090-1092)cCg>cTg	p.P364L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	364							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTTCCTCCCCGGCCCCGGCC	0.652000													14	26					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102816431	102816431	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:102816431A>T	ENST00000260302.3	-	9	1287	c.1259T>A	c.(1258-1260)aTa>aAa	p.I420K	MMP13_ENST00000340273.4_Missense_Mutation_p.I420K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	420	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCTTCTTCTATTAGTCTCGG	0.323000													29	28					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203820242	203820242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203820242C>T	ENST00000545588.1	+	16	5991	c.2164C>T	c.(2164-2166)Cct>Tct	p.P722S	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P722S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P722S|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P722S|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P722S	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	722							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGAAAATCCTAGAGACAG	0.413000													75	196					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62135261	62135261	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62135261G>A	ENST00000433197.2	-	12	1394	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	433					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGGGGGCCTCGGGCCGGGCAG	0.592000													7	42					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158974442	158974442	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158974442G>A	ENST00000605860.1	+	7	663	c.617G>A	c.(616-618)gGg>gAg	p.G206E	UPP2_ENST00000409859.4_Missense_Mutation_p.G206E|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.G149E			O95045	UPP2_HUMAN	uridine phosphorylase 2	149					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GGTACATCAGGGGGAATAGGT	0.428000													36	101					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43496020	43496020	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:43496020C>T	ENST00000395891.1	+	13	3230	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	HECW1_ENST00000453890.1_Silent_p.I841I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	875					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGGGTCCATCCAGCAGATGG	0.587000													8	72					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201020184	201020184	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201020184C>T	ENST00000362061.3	-	33	4267	c.4041G>A	c.(4039-4041)ggG>ggA	p.G1347G	CACNA1S_ENST00000367338.3_Silent_p.G1328G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1347	Dihydropyridine binding (By similarity).				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)	TGTACTCCTCCCCTGGGGCAT	0.567000													89	118					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982598	57982598	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57982598T>G	ENST00000309433.6	+	1	382	c.382T>G	c.(382-384)Ttg>Gtg	p.L128V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAATTTGCTCTTGGGGACCAT	0.453000													55	153					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274629	5274629	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5274629C>T	ENST00000380259.2	-	8	1562	c.322G>A	c.(322-324)Gga>Aga	p.G108R	HBG2_ENST00000380252.1_Missense_Mutation_p.G98R|HBG2_ENST00000336906.4_Missense_Mutation_p.G108R					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACATTTCCCAGGAGCTGT	0.522000													17	25					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35422888	35422888	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35422888G>A	ENST00000439785.1	+	3	595	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF30_ENST00000303586.7_Missense_Mutation_p.V51M|ZNF30_ENST00000601957.1_Missense_Mutation_p.V51M|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.V51M|ZNF30_ENST00000601540.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAGGAACTTGGTGTCAATGGG	0.468000													12	28					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005417	25005417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25005417G>A	ENST00000382114.4	-	8	1479	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	432						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GAAAGGTAGAGGGTATTTTGC	0.532000													133	313					0	0	1	0	0
PROK1	84432	broad.mit.edu	37	1	110998915	110998915	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110998915C>T	ENST00000271331.3	+	3	277	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	87					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTGTGCTCCAGGTTCCCG	0.537000													29	69					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150499314C>T	ENST00000484928.1	+	3	767	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176A_ENST00000004103.3_Silent_p.I62I|TMEM176A_ENST00000461345.1_Silent_p.I3I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000													18	175					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27019544	27019544	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:27019544C>T	ENST00000382009.3	+	12	2253	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	STIM2_ENST00000237364.5_Silent_p.C654C|STIM2_ENST00000412829.2_Silent_p.C654C|STIM2_ENST00000467087.1_Silent_p.C567C|STIM2_ENST00000467011.1_Silent_p.C567C|STIM2_ENST00000465503.1_Silent_p.C575C	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	567					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGTCAAGTTGCCCTGCGCTTT	0.537000													9	497					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137627784	137627784	+	Missense_Mutation	SNP	G	G	A	rs114224600	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137627784G>A	ENST00000323760.6	-	8	915	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	CDC25C_ENST00000348983.3_Missense_Mutation_p.R140C|CDC25C_ENST00000514555.1_Missense_Mutation_p.R183C|CDC25C_ENST00000415130.2_Missense_Mutation_p.R140C|CDC25C_ENST00000513970.1_Missense_Mutation_p.R213C|CDC25C_ENST00000357274.3_Missense_Mutation_p.R170C|CDC25C_ENST00000356505.3_Missense_Mutation_p.R183C	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	213					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACGGGGAGCGATATAGGCCA	0.448000													50	129					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103321079	103321079	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103321079G>A	ENST00000233969.2	+	10	2064	c.1922G>A	c.(1921-1923)cGa>cAa	p.R641Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	641						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						ATTCGCCGGCGACACAGTTTG	0.502000													27	78					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200720	155200720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155200720C>T	ENST00000460012.1	-	23	3362	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1040E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002E|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1040					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGTGTCCCCTTGGCTGGT	0.448000													49	76					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58071445	58071445	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:58071445A>T	ENST00000219271.3	+	2	1017	c.232A>T	c.(232-234)Atc>Ttc	p.I78F		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	78					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCCGCCCAGATCTTGGCCTC	0.602000													67	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9019338	9019338	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9019338G>A	ENST00000397910.4	-	23	37752	c.37549C>T	c.(37549-37551)Cct>Tct	p.P12517S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12519					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						GAGGTCCCAGGAGCTGAGAAA	0.483000													8	24					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28624232	28624232	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28624232C>T	ENST00000380982.4	-	6	823	c.742_splice	c.e6+1	p.D248_splice	FLT3_ENST00000241453.7_Splice_Site_p.D248_splice|FLT3_ENST00000537084.1_Splice_Site_p.D248_splice			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	248					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATAGTGTTACCTATTGTGAAC	0.413000			"""Mis, O"""		"""AML, ALL"""								49	79					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845091	101845091	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:101845091C>T	ENST00000360264.3	+	18	2567	c.2547C>T	c.(2545-2547)tcC>tcT	p.S849S	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Silent_p.S736S|CUX1_ENST00000292535.7_Silent_p.S838S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Silent_p.S816S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.S680S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.S782S	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	838					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCGCCTCCTCCGAGGAGGCCA	0.677000													34	68					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672429	49672429	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:49672429G>A	ENST00000561648.1	-	4	687	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	ZNF423_ENST00000562520.1_Missense_Mutation_p.H152Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.H95Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.H95Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.H152Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.H212Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.H152Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	212					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTCTTCAGGTGGATCTTGAGG	0.612000													4	54					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286819	57286819	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57286819G>A	ENST00000391708.3	-	12	1363	c.821C>T	c.(820-822)cCc>cTc	p.P274L	ZIM2_ENST00000599935.1_Missense_Mutation_p.P274L|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P274L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P274L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P274L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAGGGTCTTGGGGTCATTCAT	0.448000													8	106					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400170	47400170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47400170C>T	ENST00000457840.2	-	6	688	c.385G>A	c.(385-387)Gag>Aag	p.E129K	CYP4A11_ENST00000371904.4_Silent_p.K285K|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.K284K|CYP4A11_ENST00000310638.4_Silent_p.K284K			Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	0					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTCTTCCTCTTGATCTTCT	0.498000													6	143					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31352999	31352999	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:31352999C>T	ENST00000225823.2	-	5	2012	c.1138_splice	c.e5-1	p.G380_splice	ASIC2_ENST00000359872.6_Splice_Site_p.G329_splice|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	329					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AAGGGGCATCCCCTGCAAAGA	0.572000													20	76					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090650	49090650	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49090650C>T	ENST00000323090.4	+	2	709	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	SULT2B1_ENST00000201586.2_Missense_Mutation_p.P127S	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTCCCATCTTCCCATCCAGAT	0.612000													50	116					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100912795	100912795	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:100912795C>T	ENST00000325455.5	-	7	3980	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	PGR_ENST00000263463.5_Missense_Mutation_p.E741K|PGR_ENST00000534013.1_Missense_Mutation_p.E249K	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	843	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GACCTCATCTCCTCAAACTGG	0.383000													34	29					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466228	56466228	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56466228G>A	ENST00000291971.3	+	3	875	c.804G>A	c.(802-804)caG>caA	p.Q268Q	NLRP8_ENST00000590542.1_Silent_p.Q268Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	268	NACHT.		Q -> R (in dbSNP:rs7259764).			cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGATCTCAGGACCTCGTGT	0.517000													107	180					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581525	56581525	+	Silent	SNP	G	G	A	rs139674521		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56581525G>A	ENST00000323456.5	-	14	1666	c.1542C>T	c.(1540-1542)aaC>aaT	p.N514N	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	514	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCACAGGGGTTGTTGGCCA	0.542000													67	254					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025235	172025235	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172025235C>T	ENST00000336824.4	+	10	1243	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P382S|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P382S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	382	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCCGAGTGTCCTTTCCCCCC	0.478000													40	82					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133848188	133848188	+	Silent	SNP	C	C	T	rs61732268		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:133848188C>T	ENST00000285928.2	+	7	904	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	279							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTTGGAGGATCTGAAAGCCCT	0.418000													46	111					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692334	135692334	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135692334C>T	ENST00000513104.1	-	2	1024	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E248K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E248K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	248					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGCTAACTCGTTGCTGAGC	0.577000													13	22					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238289897C>T	ENST00000295550.4	-	5	2010	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G113S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G314S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G314S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G520S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G319S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G113S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G314S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	520	Nonhelical region.|VWFA 3.				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)		AGGGCCGAGCCGTCCAGGGGC	0.522000													74	187					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411395	210411395	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:210411395G>A	ENST00000367012.3	+	2	320	c.90G>A	c.(88-90)gaG>gaA	p.E30E	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	30							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CACTATGGGAGGCTGACAGCT	0.587000													46	175					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126367653	126367653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126367653C>T	ENST00000394329.3	+	8	7412	c.7399C>T	c.(7399-7401)Cag>Tag	p.Q2467*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q765*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2467	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAAGATTTCAGCATCACCC	0.463000													43	95					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36271372	36271372	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36271372C>T	ENST00000296604.3	-	2	618	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RANBP3L_ENST00000502994.1_Missense_Mutation_p.G45R|RANBP3L_ENST00000515759.1_Missense_Mutation_p.G45R	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	45					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTTTGTTCTCCCTTTTCAAAA	0.303000													25	65					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123904426	123904426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:123904426C>T	ENST00000373855.1	+	19	3009	c.2749C>T	c.(2749-2751)Cac>Tac	p.H917Y	CNTRL_ENST00000238341.5_Missense_Mutation_p.H917Y|CNTRL_ENST00000373847.1_Missense_Mutation_p.H365Y|CNTRL_ENST00000373850.1_Missense_Mutation_p.H365Y			Q7Z7A1	CNTRL_HUMAN	centriolin	917					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAATGAAATTCACTATTTGCA	0.358000													17	34					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37096850	37096850	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37096850A>G	ENST00000263918.4	-	11	1354	c.1346T>C	c.(1345-1347)tTg>tCg	p.L449S	STRN_ENST00000379213.2_Missense_Mutation_p.L400S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	449					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGTCTTCCTCAATGCATCTTT	0.363000													22	41					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10822956	10822956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10822956C>T	ENST00000250237.5	+	6	776	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	256					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGACAAGCCCCGATATCTGAT	0.642000													25	68					0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64756633	64756633	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64756633G>A	ENST00000301887.4	-	3	923	c.793C>T	c.(793-795)Cct>Tct	p.P265S	BATF2_ENST00000527716.1_Missense_Mutation_p.P241S|BATF2_ENST00000435842.2_Missense_Mutation_p.P180S	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	265						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GAGAGCAGAGGAAAGGCCAGG	0.602000													40	64					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742109	121742109	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:121742109G>A	ENST00000452319.1	+	12	1806	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	GLI2_ENST00000314490.11_Silent_p.R254R|GLI2_ENST00000361492.4_Silent_p.R582R|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	582					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTCTCTCCGGAAGCATGTGA	0.572000													10	264					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953174	38953174	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38953174C>T	ENST00000306658.7	-	5	1037	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	324	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTACCGTGGCCATCAGGGACT	0.572000													13	108					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887838	30887838	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:30887838G>A	ENST00000392772.2	-	10	1009	c.732C>T	c.(730-732)ttC>ttT	p.F244F	SEC14L4_ENST00000255858.7_Silent_p.F298F|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.F283F|SEC14L4_ENST00000381982.3_Silent_p.F298F			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	298	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACAGCCCGGGAACAGGATCT	0.647000													8	18					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833264	168833264	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:168833264C>T	ENST00000464456.1	-	7	3032	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E	MECOM_ENST00000433243.2_Missense_Mutation_p.G612E|MECOM_ENST00000460814.1_Missense_Mutation_p.G611E|MECOM_ENST00000494292.1_Missense_Mutation_p.G799E|MECOM_ENST00000392736.3_Missense_Mutation_p.G611E|MECOM_ENST00000264674.3_Missense_Mutation_p.G676E|MECOM_ENST00000472280.1_Missense_Mutation_p.G612E|MECOM_ENST00000468789.1_Missense_Mutation_p.G611E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	20							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTTTTTTTCCCCCAAACAC	0.502000													29	51					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22925710	22925710	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22925710G>A	ENST00000514473.2	-	0	225				TRDJ2_ENST00000390475.1_RNA																							CTTTGGAAAGGGAACACAACT	0.418000													79	180					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52941650	52941650	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52941650C>T	ENST00000267119.5	-	6	1164	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	365	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTGCTTCTTCACGTTCTCGA	0.562000													94	203					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64982577	64982577	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:64982577G>A	ENST00000394156.3	-	13	2461	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AAGACCCCCAGAAGACAAAAT	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			11	9					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10231231	10231231	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10231231C>T	ENST00000418404.3	-	21	2806	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	MYH13_ENST00000252172.4_Missense_Mutation_p.M881I|MYH13_ENST00000570743.1_Missense_Mutation_p.M881I|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	881					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGAGGGAGACCATTTTCTCCT	0.522000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	58					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004661	248004661	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004661C>T	ENST00000355784.2	-	1	593	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D180N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCGGGAGGTCGCAGAAGAAA	0.507000													46	152					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9793488	9793488	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9793488C>T	ENST00000302036.7	+	3	763	c.420C>T	c.(418-420)tgC>tgT	p.C140C	OGG1_ENST00000349503.5_Silent_p.C140C|OGG1_ENST00000302008.8_Silent_p.C140C|OGG1_ENST00000302003.7_Silent_p.C140C|OGG1_ENST00000383826.5_Silent_p.C140C|OGG1_ENST00000339511.5_Silent_p.C140C|OGG1_ENST00000449570.2_Silent_p.C140C|OGG1_ENST00000344629.7_Silent_p.C140C	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	140					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCATCGAATGCCTTTTCTCTT	0.572000								Base excision repair (BER), DNA glycosylases					70	216					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31368230	31368230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31368230C>T	ENST00000328111.2	+	2	422	c.101C>T	c.(100-102)tCg>tTg	p.S34L	DNMT3B_ENST00000375623.4_Missense_Mutation_p.S34L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S46L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S34L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S34L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	34	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTCCGACTCGCCCCCAATC	0.647000													17	30					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135816	55135816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55135816G>A	ENST00000314706.3	+	1	457	c.457G>A	c.(457-459)Gcc>Acc	p.A153T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCGATACATGGCCATCTGTAA	0.438000													6	285					0	0	1	0	0
NRARP	441478	broad.mit.edu	37	9	140196327	140196327	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140196327G>A	ENST00000356628.2	-	1	376	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	18					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CAGCCTCCTGGAAGATGCGCT	0.716000													40	77					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190050	50190050	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:50190050G>A	ENST00000335999.6	-	8	1794	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	527	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGTGGAGTCTGGGGTTG	0.642000													10	26					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718276	179718276	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179718276C>T	ENST00000420890.2	-	20	3253	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E471K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	471							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCACAGCTTCCTTTGTCTTG	0.423000													27	96					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387594	6387594	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6387594G>A	ENST00000262483.8	-	5	380	c.293C>T	c.(292-294)tCc>tTc	p.S98F	ACKR6_ENST00000421306.3_Missense_Mutation_p.S62F	NM_031220.3	NP_112497.2																					TCTTCTCAAGGAAACCCGGTA	0.597000													63	134					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35066046	35066046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35066046C>T	ENST00000382002.5	-	10	1440	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.M237I|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.M237I|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	338					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	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)	ATGTGGGTTTCATACCTTGAC	0.493000													43	100					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222761	140222761	+	Missense_Mutation	SNP	C	C	T	rs145175505		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140222761C>T	ENST00000531613.1	+	1	1855	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R619C|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGCCCTCGCATCCCGTT	0.672000													5	241					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447398	226447398	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:226447398G>A	ENST00000272907.6	+	4	1678	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	422	Pro-rich.																ACGCTGTACCGAACCCAGTCT	0.662000													16	23					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434918	35434918	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35434918G>A	ENST00000439785.1	+	5	1495	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	ZNF30_ENST00000303586.7_Missense_Mutation_p.G351R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G269R|ZNF30_ENST00000601142.1_Missense_Mutation_p.G350R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TAAGGAATGTGGAAAGGCCTT	0.448000													4	112					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251100	35251100	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35251100C>T	ENST00000329285.7	-	4	979	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T202T(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCACATTCCGTGCATGTGT	0.498000													51	170					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143781960	143781960	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143781960C>T	ENST00000522591.1	+	1	71	c.15C>T	c.(13-15)gcC>gcT	p.A5A	LY6K_ENST00000292430.6_Silent_p.A5A|LY6K_ENST00000519387.1_Silent_p.A5A|LY6K_ENST00000518841.1_Silent_p.A5A|LY6K_ENST00000561179.1_Silent_p.A63A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	5						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGCTGCTCGCCTTGCTGCTGG	0.706000													9	13					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101806860	101806860	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101806860G>A	ENST00000375001.3	+	25	3008	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	862	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAGAAGGGAGAGCCGGGT	0.527000													26	74					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991438	39991438	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:39991438C>T	ENST00000332312.3	-	4	963	c.771G>A	c.(769-771)gaG>gaA	p.E257E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	257						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGTTGCTCACCTCTGTCACCT	0.607000													30	69					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150558103	150558103	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150558103C>T	ENST00000493429.1	+	7	2646	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	AOC1_ENST00000467291.1_Missense_Mutation_p.P688S|AOC1_ENST00000416793.2_Missense_Mutation_p.P707S|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P688S					amine oxidase, copper containing 1									p.P688A(1)									CACAGCCACACCTGGGAACTC	0.622000													42	124					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253781	81253781	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81253781G>A	ENST00000599697.1	-	1	194	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	65	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGTCCTGAATGAAGACCAAAT	0.557000													52	52					0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36883803	36883803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36883803C>T	ENST00000356637.5	-	11	1170	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Silent_p.T359T|OSCP1_ENST00000433045.2_Silent_p.T314T			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	369					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TTGGCTGCTCCGTGATCTCAA	0.572000													14	37					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903817	76903817	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76903817G>A	ENST00000285871.4	+	11	1415	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	CCDC146_ENST00000431197.1_Missense_Mutation_p.E144K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	430										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATCAGAAATGGAGTCTAAGTT	0.303000													6	28					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844564	3844564	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3844564C>T	ENST00000309890.7	-	14	1951	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	ATP2A3_ENST00000359983.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397035.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000352011.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397043.3_Missense_Mutation_p.D601N	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	601					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGCGGCGGGTCCAGCATGCCT	0.652000													41	88					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111251	46111251	+	Silent	SNP	C	C	T	rs145644328		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46111251C>T	ENST00000321037.4	+	4	1466	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	412						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CGATTGTTATCGGTTCACTCT	0.418000													75	230					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326659	158326659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158326659G>A	ENST00000444681.2	+	5	1136	c.843G>A	c.(841-843)tgG>tgA	p.W281*	CD1E_ENST00000368156.1_Nonsense_Mutation_p.W278*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.W191*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.W179*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.W290*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.W368*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.W124*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.W223*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.W380*|CD1E_ENST00000368154.1_Nonsense_Mutation_p.W136*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Nonsense_Mutation_p.W313*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	380	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.W380*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAAGAAGTGGAAGACACGCC	0.428000													38	110					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915865	227915865	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:227915865C>T	ENST00000396625.3	-	33	3185	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G993E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	993	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)		CCCGGGAGTTCCTTTATCACC	0.502000													55	97					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266558	124266558	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124266558G>A	ENST00000354597.3	-	1	706	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTCCTTGAGTGGATTTGATAT	0.368000													41	56					0	0	1	0	0
RPS15A	6210	broad.mit.edu	37	16	18794349	18794349	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:18794349G>A	ENST00000322989.4	-	5	470	c.375C>T	c.(373-375)atC>atT	p.I125I	RPS15A_ENST00000565420.1_Silent_p.I125I|RPS15A_ENST00000576436.1_3'UTR|RPS15A_ENST00000563390.1_Silent_p.I125I|RPS15A_ENST00000575669.1_5'UTR	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN	ribosomal protein S15a	125					endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2						AGAATCCCAGGATTTTCCCTC	0.413000													32	57					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055899	93055899	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:93055899G>A	ENST00000359558.2	-	16	1595	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	CALCR_ENST00000394441.1_Silent_p.V398V|CALCR_ENST00000421592.1_Silent_p.V414V|CALCR_ENST00000360249.4_Silent_p.V414V|CALCR_ENST00000426151.1_Silent_p.V398V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	414					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.V432V(1)|p.V398V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGGTGGTTTGGACCTGGAAGA	0.493000													31	93					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846809	55846809	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55846809G>A	ENST00000322678.1	+	1	812	c.812G>A	c.(811-813)gGa>gAa	p.G271E	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATAAATAAAGGAGTTTCAGTT	0.423000													44	53					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166166	41166166	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41166166G>A	ENST00000483722.1	-	2	242	c.55_splice	c.e2-1	p.G19_splice		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	19			G -> C (in dbSNP:rs4418164).		T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCAGAGGGGCCTGTGGAGA	0.478000													68	207					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183099639	183099639	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183099639C>T	ENST00000258341.4	+	19	3698	c.3441C>T	c.(3439-3441)atC>atT	p.I1147I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1147	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATTGAAATCGCATCCAGAG	0.498000													29	98					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70314922	70314922	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70314922T>C	ENST00000303577.5	+	1	338	c.47T>C	c.(46-48)aTt>aCt	p.I16T	PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	16	KH 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	p.I16N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ACTCTCACCATTCGGCTTCTT	0.562000													63	135					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365085	25365085	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:25365085C>T	ENST00000330560.3	+	15	3380	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S953F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	968					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GCTGGTTCTTCCGATGAACCT	0.483000													10	275					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905285	74905285	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:74905285C>T	ENST00000370891.2	+	22	2309	c.2293C>T	c.(2293-2295)Cca>Tca	p.P765S	TNNI3K_ENST00000326637.3_Missense_Mutation_p.P664S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.P765S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P765S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGGCGAAATTCCATTCGCTCA	0.423000													33	90					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941605	13941605	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13941605C>T	ENST00000254323.2	+	13	2900	c.2711C>T	c.(2710-2712)cCa>cTa	p.P904L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P738L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	904							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCCGCCAAGCCACTGGGTGCC	0.711000													40	62					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828457	61828457	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61828457G>T	ENST00000280772.1	-	37	12373	c.12182C>A	c.(12181-12183)gCa>gAa	p.A4061E	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4061					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						TAAAGGTGCTGCCTCTGTTTT	0.502000													74	141					1.12115e-39	1.13503e-39	1	1	0
MYPN	84665	broad.mit.edu	37	10	69881830	69881830	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:69881830C>T	ENST00000358913.5	+	2	1123	c.635C>T	c.(634-636)cCc>cTc	p.P212L	MYPN_ENST00000373675.3_Missense_Mutation_p.P212L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P212L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	212	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCTTCTGTTCCCATCCCTATC	0.488000													19	46					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295330	19295330	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:19295330G>A	ENST00000328405.2	+	2	527	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	87	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAAGTCACTGGAGGAGAAAA	0.423000													6	177					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629301	9629301	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:9629301G>A	ENST00000382492.2	-	1	1162	c.844C>T	c.(844-846)Cct>Tct	p.P282S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	282					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TTCAATTTAGGATTTCCTAAA	0.363000													42	48					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554503	140554503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140554503C>T	ENST00000231137.3	+	1	2261	c.2087C>T	c.(2086-2088)tCt>tTt	p.S696F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		696					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)			GCCTCGGTGTCTTCGCTCTTC	0.716000													70	300					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38620951	38620951	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38620951G>A	ENST00000413689.1	-	18	3457	c.3264C>T	c.(3262-3264)gcC>gcT	p.A1088A	SCN5A_ENST00000443581.1_Silent_p.A1087A|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000414099.2_Silent_p.A1088A|SCN5A_ENST00000423572.2_Silent_p.A1087A|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000333535.4_Silent_p.A1088A|SCN5A_ENST00000455624.2_Silent_p.A1087A|SCN5A_ENST00000425664.1_Silent_p.A1088A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1088				A -> G (in Ref. 1; AAA58644 and 5; BAD12084).	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)	AATCCGGAGGGGCCTCTGGGC	0.657000													16	32					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497338	28497338	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28497338C>T	ENST00000412168.2	+	2	287	c.198C>T	c.(196-198)ttC>ttT	p.F66F	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Silent_p.F66F	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	66					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACATCCTCTTCGTCAACGTGG	0.428000													46	104					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493491	20493491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20493491C>T	ENST00000504154.1	+	9	1135	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	SLIT2_ENST00000273739.5_Missense_Mutation_p.P299S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P295S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P299S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	295	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CACTGAGATCCCCACAAATCT	0.458000													4	125					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2081995	2081995	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:2081995C>T	ENST00000382203.1	+	15	2557	c.2348_splice	c.e15+1	p.S783_splice	SMARCA2_ENST00000357248.2_Splice_Site_p.S783_splice|SMARCA2_ENST00000382194.1_Splice_Site_p.S783_splice|SMARCA2_ENST00000349721.2_Splice_Site_p.S783_splice			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	783	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTTCCCCTTTCGTAAGTAAAG	0.408000													87	61					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034503	69034503	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69034503C>T	ENST00000295381.3	+	5	981	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	ARHGAP25_ENST00000497079.1_Silent_p.L182L|ARHGAP25_ENST00000409202.3_Silent_p.L189L|ARHGAP25_ENST00000409220.1_Silent_p.L182L|ARHGAP25_ENST00000544262.1_Silent_p.L163L|ARHGAP25_ENST00000467265.1_Silent_p.L149L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Silent_p.L181L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	188	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAGTTCATCCTGGAGCACGG	0.582000													4	98					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925348	38925348	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38925348A>C	ENST00000274276.3	+	15	2489	c.2087A>C	c.(2086-2088)gAa>gCa	p.E696A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	696	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AACCCGGAAGAAAAGGCATTG	0.363000													50	346					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24628466	24628466	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:24628466C>T	ENST00000284224.8	-	3	400	c.121_splice	c.e3-1	p.G41_splice	CHST9_ENST00000580774.1_Splice_Site_p.G41_splice|CHST9_ENST00000581714.1_Splice_Site_p.G41_splice|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	41					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCCACTCTCCCTGAAATGA	0.358000													8	82					0	0	1	0	0
CALM3	808	broad.mit.edu	37	19	47111767	47111767	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47111767C>T	ENST00000291295.9	+	4	406	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CALM3_ENST00000599839.1_Silent_p.F33F|CALM3_ENST00000594523.1_Silent_p.F33F|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000391918.2_Silent_p.F33F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Silent_p.F33F|CALM3_ENST00000596362.1_Silent_p.F69F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	69	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TCCCGGAGTTCCTGACCATGA	0.577000													8	108					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643989	39643989	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39643989C>T	ENST00000393986.2	-	5	762	c.549_splice	c.e5-1	p.E184_splice	KRT36_ENST00000328119.6_Splice_Site_p.E234_splice			O76013	KRT36_HUMAN	keratin 36	234	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACACTGACTTCCTGCAGAGAG	0.522000													38	60					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45713771	45713771	+	Missense_Mutation	SNP	C	C	T	rs55840791		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45713771C>T	ENST00000291582.5	+	11	1505	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	AIRE_ENST00000329347.4_Silent_p.S225S|AIRE_ENST00000355347.4_Missense_Mutation_p.P253S	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	460				CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CTGCCACTTCCCAGCCGGCAC	0.697000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				20	32					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106769952	106769952	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:106769952G>A	ENST00000276185.4	+	3	233	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	78	PDZ.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTGGTGGTTCGATCTGTGAGG	0.557000													41	18					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37986290	37986290	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:37986290C>T	ENST00000343823.6	+	12	1657	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	ASH2L_ENST00000545394.1_Missense_Mutation_p.P311S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P356S|ASH2L_ENST00000428278.2_Missense_Mutation_p.P356S|ASH2L_ENST00000250635.7_Missense_Mutation_p.P356S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	450	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CCTTCAAGCTCCTTTAGGTTA	0.398000													5	191					0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132018217	132018217	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:132018217G>A	ENST00000231449.2	+	4	465	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	IL4_ENST00000350025.2_Missense_Mutation_p.E118K	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	134					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GAGTACGTTGGAAAACTTCTT	0.363000													22	65					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579640	43579640	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43579640C>T	ENST00000406487.1	-	3	673	c.575G>A	c.(574-576)aGg>aAg	p.R192K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	192	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CAGCTGAAACCTATGAGTCAT	0.493000													167	326					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502045	91502045	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:91502045G>A	ENST00000266718.4	-	2	1166	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	238					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGTTCGTTGTGAGATAAACGC	0.393000													46	92					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6077677	6077677	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:6077677G>A	ENST00000217289.4	-	8	1749	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	FERMT1_ENST00000536936.1_Missense_Mutation_p.H64Y	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	321	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTGCTAATGTGGTACTAAAAT	0.358000													96	199					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346544	29346544	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:29346544G>A	ENST00000558402.1	+	5	1056	c.457G>A	c.(457-459)Gag>Aag	p.E153K	APBA2_ENST00000558259.1_Missense_Mutation_p.E153K|APBA2_ENST00000561069.1_Missense_Mutation_p.E153K|APBA2_ENST00000411764.1_Missense_Mutation_p.E153K|APBA2_ENST00000558330.1_Missense_Mutation_p.E153K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	153					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCACGGCCACGAGGCTGAAGG	0.652000													6	68					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105660969	105660969	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:105660969T>A	ENST00000542731.1	+	13	1912	c.1804T>A	c.(1804-1806)Ttc>Atc	p.F602I	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.F602I|CDHR3_ENST00000478080.1_Missense_Mutation_p.F514I|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	602	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCCCAGATCTTTCCGTTATTC	0.488000													19	184					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349344	103349344	+	Silent	SNP	G	G	A	rs139971743	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:103349344G>A	ENST00000357421.4	-	2	777	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	199					transport	integral to membrane|mitochondrial inner membrane											GGCCATCCTGGATGGGGTCCT	0.557000													67	30					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870218	36870218	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:36870218G>A	ENST00000279024.4	-	3	586	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	105										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTGGAGGTAGAAGTCACCCT	0.562000													58	134					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171759631	171759631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171759631C>T	ENST00000361735.3	+	5	1615	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	METTL13_ENST00000466643.1_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.P364L|METTL13_ENST00000458517.1_Missense_Mutation_p.P449L|METTL13_ENST00000367737.5_Missense_Mutation_p.P294L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	450							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AAGCAGCGGCCTGCTGATGCG	0.532000													76	99					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55502003	55502003	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55502003G>A	ENST00000543010.1	+	10	2814	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	NLRP2_ENST00000263437.6_Missense_Mutation_p.G888S|NLRP2_ENST00000427260.2_Missense_Mutation_p.G868S|NLRP2_ENST00000537859.1_Missense_Mutation_p.G869S|NLRP2_ENST00000339757.7_Missense_Mutation_p.G869S|NLRP2_ENST00000538819.1_Missense_Mutation_p.G867S|NLRP2_ENST00000391721.4_Missense_Mutation_p.G867S|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000448584.2_Missense_Mutation_p.G891S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	891					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTGTGTGAGGGCTTGAGGTA	0.577000													7	109					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95768739	95768739	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:95768739C>T	ENST00000311106.3	-	1	245	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	3					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGCTCTTCGCTCCATAGC	0.507000													76	145					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86678263	86678263	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:86678263C>T	ENST00000409556.1	+	5	745	c.380C>T	c.(379-381)tCc>tTc	p.S127F	KDM3A_ENST00000542128.1_Missense_Mutation_p.S75F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S127F|KDM3A_ENST00000409064.1_Missense_Mutation_p.S127F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	127					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGTTTGGGATCCATAACTTCT	0.358000													26	64					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790489	57790489	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:57790489C>T	ENST00000396776.2	+	3	588	c.126C>T	c.(124-126)acC>acT	p.T42T	GAPT_ENST00000318469.2_Silent_p.T42T	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	42					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CACGATTTACCTTACCGAGGT	0.448000													4	79					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16753612	16753612	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:16753612G>A	ENST00000320122.6	-	2	705	c.183C>T	c.(181-183)atC>atT	p.I61I	LMO3_ENST00000535535.1_Silent_p.I61I|LMO3_ENST00000537304.1_Silent_p.I61I|LMO3_ENST00000534946.1_Silent_p.I61I|LMO3_ENST00000441439.2_Silent_p.I61I|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000261169.6_Silent_p.I72I|LMO3_ENST00000447609.1_Silent_p.I61I|LMO3_ENST00000541846.1_Silent_p.I61I|LMO3_ENST00000354662.1_Silent_p.I61I|LMO3_ENST00000541295.1_Silent_p.I79I|LMO3_ENST00000540848.1_Silent_p.I61I|LMO3_ENST00000540445.1_Intron	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	61	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TGCGACAAAGGATAAGATTAG	0.448000													30	47					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266928	107266928	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107266928C>T	ENST00000334726.2	+	1	474	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATCTGCAACCCCCTGAGATA	0.552000													29	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463999	179463999	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179463999C>T	ENST00000589042.1	-	290	56745	c.56521G>A	c.(56521-56523)Gag>Aag	p.E18841K	TTN_ENST00000359218.5_Missense_Mutation_p.E9901K|TTN_ENST00000591111.1_Missense_Mutation_p.E17200K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16273K|TTN_ENST00000460472.2_Missense_Mutation_p.E9776K|TTN_ENST00000342175.6_Missense_Mutation_p.E9968K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17200	Ig-like 107.						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)			TACGTGCACTCCTTAGGTTCA	0.423000													21	162					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823889	34823889	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:34823889C>T	ENST00000265109.3	+	15	2229	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RAI14_ENST00000397449.1_Silent_p.L641L|RAI14_ENST00000512629.1_Silent_p.L619L|RAI14_ENST00000503673.1_Silent_p.L648L|RAI14_ENST00000515799.1_Silent_p.L651L|RAI14_ENST00000506376.1_Silent_p.L640L|RAI14_ENST00000428746.2_Silent_p.L648L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	648						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGTGAGCGAGCTGTCACAGCT	0.443000													35	87					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54793496	54793496	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54793496G>A	ENST00000293379.4	-	27	3035	c.2774C>T	c.(2773-2775)cCc>cTc	p.P925L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	925					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTGGTGCAGGGGCCCGAGCTC	0.562000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	157					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20003318	20003318	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:20003318G>A	ENST00000440926.1	-	17	2004	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	SLC18A1_ENST00000519026.1_Missense_Mutation_p.P480S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P480S|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P512S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.S467F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.S467F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	512					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TCCCCCAGAGGAAATTCCTTC	0.552000													12	62					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56436372	56436372	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56436372G>A	ENST00000588751.1	-	2	373	c.349C>T	c.(349-351)Cca>Tca	p.P117S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P117S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	117							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGGGTTGGATCTTGCAGC	0.443000													25	51					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103430944	103430944	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103430944G>A	ENST00000361246.2	-	19	2909	c.2621C>T	c.(2620-2622)tCc>tTc	p.S874F		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	874					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGCCGCGCGGACATGTCCAG	0.587000													23	38					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505034	159505034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159505034G>A	ENST00000334857.2	-	1	808	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTAGGCAATGGAGGCACAGCC	0.498000													24	87					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849338	14849338	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14849338G>A	ENST00000261170.3	-	1	181	c.45C>T	c.(43-45)ttC>ttT	p.F15F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	15					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACCCGGGCTGGAAGAGCAGTG	0.527000													17	33					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16077298	16077298	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:16077298C>T	ENST00000352083.6	-	10	1328	c.1251_splice	c.e10+1	p.K417_splice	SOX6_ENST00000396356.3_Splice_Site_p.K417_splice|SOX6_ENST00000527619.1_Splice_Site_p.K379_splice|SOX6_ENST00000316399.6_Splice_Site_p.K417_splice|SOX6_ENST00000528252.1_Splice_Site_p.K376_splice|SOX6_ENST00000528429.1_Splice_Site_p.K417_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	417					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCGAGTGTACCTTAACTTGAG	0.448000													5	58					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408077	47408077	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47408077G>A	ENST00000398879.1	-	17	2532	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	TNS3_ENST00000355730.3_Silent_p.A482A|TNS3_ENST00000311160.9_Silent_p.A722A			Q68CZ2	TENS3_HUMAN	tensin 3	722						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						GGCTACCGAGGGCGTTCATGT	0.652000													78	168					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637084	129637084	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:129637084G>A	ENST00000421865.2	+	26	3962	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1305	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGAAATTGAAATGACAGA	0.398000													40	106					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29966176	29966176	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29966176C>T	ENST00000339144.3	-	2	186	c.80G>A	c.(79-81)gGa>gAa	p.G27E	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Intron			Q8N690	DB119_HUMAN	defensin, beta 119	27					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			caggcagcatcccactgtcct	0.493000													63	124					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427504	97427504	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97427504C>T	ENST00000377075.2	+	1	866	c.768C>T	c.(766-768)tcC>tcT	p.S256S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	256	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCAACACCTCCCTCACAATCC	0.587000													37	125					0	0	1	0	0
ADM2	79924	broad.mit.edu	37	22	50921037	50921037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50921037G>A	ENST00000395738.2	+	2	444	c.152G>A	c.(151-153)aGg>aAg	p.R51K	ADM2_ENST00000362068.2_5'UTR|ADM2_ENST00000395737.1_Missense_Mutation_p.R51K	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	51					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGCCCAGGCACCCCGCA	0.662000													8	7					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184102819	184102819	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184102819C>T	ENST00000204604.1	+	14	1857	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	CHRD_ENST00000450923.1_Silent_p.P537P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P167P|CHRD_ENST00000348986.3_Silent_p.P497P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	537	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCCGTGCCCCTAGCAGGAG	0.617000													84	221					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965012	21965012	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21965012C>T	ENST00000261200.4	-	34	4181	c.4182G>A	c.(4180-4182)caG>caA	p.Q1394Q	ABCC9_ENST00000261201.4_Silent_p.Q1394Q|ABCC9_ENST00000345162.2_Silent_p.Q1358Q	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1394	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTATTGGATCCTGCAGAATGA	0.373000													5	116					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85695995	85695995	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:85695995G>A	ENST00000322366.6	-	29	5139	c.4732C>T	c.(4732-4734)Cct>Tct	p.P1578S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1578S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1578						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTGCTAGGAAAACCTTGC	0.378000													4	92					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14380321	14380321	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:14380321G>A	ENST00000545643.1	-	1	409	c.96C>T	c.(94-96)atC>atT	p.I32I	RRAS2_ENST00000256196.4_Silent_p.I32I|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000529237.1_Intron	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	32						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GGATGAACTGGATGGTGAGCG	0.786000													11	12					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80642033	80642033	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:80642033C>T	ENST00000299564.8	-	6	1473	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	CDYL2_ENST00000562812.1_Missense_Mutation_p.E441K|CDYL2_ENST00000566173.1_Missense_Mutation_p.E441K|CDYL2_ENST00000563890.1_Missense_Mutation_p.E441K	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	440						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGCATGACCTCCTGGCTGAAC	0.607000													6	6					0	0	1	0	0
CCL22	6367	broad.mit.edu	37	16	57394368	57394368	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57394368G>A	ENST00000219235.4	+	2	138	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	31					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity	p.M31I(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GCGCCAACATGGAAGACAGCG	0.642000													45	41					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922451	54922451	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:54922451G>A	ENST00000396865.2	-	16	2148	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	SLC38A9_ENST00000416547.2_Silent_p.F395F|SLC38A9_ENST00000512595.1_Silent_p.F456F|SLC38A9_ENST00000318672.3_Silent_p.F519F|SLC38A9_ENST00000515629.1_Silent_p.F456F|SLC38A9_ENST00000539768.1_3'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	519					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGGGTATATGAATACAAAGG	0.383000													61	142					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900625	51900625	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:51900625C>T	ENST00000268919.4	+	1	387	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	77					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACCATACTCCTGCTGAATC	0.562000													12	288					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858613	23858613	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23858613C>T	ENST00000405093.3	-	28	4037	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1323K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1323					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	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TTGCCCTCCTCCTCCAGCTGC	0.607000													41	123					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117975	79117975	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79117975C>T	ENST00000442371.1	+	3	1617	c.678C>T	c.(676-678)aaC>aaT	p.N226N	GCNT1_ENST00000376730.4_Silent_p.N226N|GCNT1_ENST00000444201.2_Silent_p.N226N|GCNT1_ENST00000536223.1_Silent_p.N226N	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	226	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTAAAACCAACCTAGAAATTG	0.418000													26	52					0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231683263	231683263	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231683263C>T	ENST00000258418.5	+	9	1299	c.870C>T	c.(868-870)ccC>ccT	p.P290P	CAB39_ENST00000410084.3_Silent_p.P290P|CAB39_ENST00000409788.3_Silent_p.P290P	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	290					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		AGACGCAGCCCATCCTAGACA	0.522000													5	84					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1680705	1680705	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1680705C>T	ENST00000252804.4	-	8	892	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	281	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACTTGTTTCGCAGCCAGAT	0.582000													5	16					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477801	42477801	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:42477801G>A	ENST00000434000.1	-	9	1692	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	GPATCH8_ENST00000591680.1_Silent_p.A548A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	548						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCACTGGAGGGCAGTGCTTT	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	57					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87083882	87083882	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87083882G>A	ENST00000265723.4	-	5	424	c.313C>T	c.(313-315)Cca>Tca	p.P105S	ABCB4_ENST00000453593.1_Missense_Mutation_p.P105S|ABCB4_ENST00000545634.1_Missense_Mutation_p.P105S|ABCB4_ENST00000359206.3_Missense_Mutation_p.P105S|ABCB4_ENST00000358400.3_Missense_Mutation_p.P105S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	105	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATTTTGCCTGGATTTAGCAGC	0.269000													36	70					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569976	248569976	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248569976C>T	ENST00000366474.1	+	1	681	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTAACCACTTCTTCTGTGAGG	0.507000													68	52					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570762	1570762	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1570762G>A	ENST00000426508.2	-	27	3864	c.3501C>T	c.(3499-3501)acC>acT	p.T1167T	IFT140_ENST00000361339.5_Silent_p.T361T	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1167										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)				CCATCTCCTCGGTGATGCTCA	0.622000													17	27					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932346	23932346	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23932346C>T	ENST00000331837.4	-	1	104	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	7					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCGCTCAGATCCTTACTTTGT	0.647000									Prader-Willi syndrome				20	45					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508607	44508607	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:44508607G>A	ENST00000260649.6	+	3	768	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SLC3A1_ENST00000409229.3_Missense_Mutation_p.G231E|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G231E|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G231E|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G231E	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	231					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACACGGACAGGAAAATATACT	0.358000													23	46					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130871299	130871299	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130871299T>A	ENST00000383366.4	+	8	1008	c.715T>A	c.(715-717)Tcc>Acc	p.S239T	NEK11_ENST00000429253.2_Missense_Mutation_p.S239T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.S239T|NEK11_ENST00000510688.1_Missense_Mutation_p.S239T|NEK11_ENST00000507910.1_Missense_Mutation_p.S239T|NEK11_ENST00000508196.1_Missense_Mutation_p.S239T|NEK11_ENST00000412440.2_Missense_Mutation_p.S91T|NEK11_ENST00000511262.1_Missense_Mutation_p.S239T|NEK11_ENST00000510769.1_Intron	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	239	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAATTTCTTATCCATTGTTTT	0.363000													13	140					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965769	35965769	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35965769G>A	ENST00000274278.3	-	4	919	c.562C>T	c.(562-564)Cct>Tct	p.P188S	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P154S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P134S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P188S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	188						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAGGAAGGGAATACTGGA	0.468000													22	111					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732002	119732002	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:119732002G>A	ENST00000541757.1	+	6	700	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	MARCO_ENST00000327097.4_Missense_Mutation_p.R185Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	185					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTATGGGACGAGATGGAGCA	0.582000													10	21					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62228577	62228577	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62228577C>T	ENST00000371158.2	+	2	127	c.13C>T	c.(13-15)Cct>Tct	p.P5S	INADL_ENST00000316485.6_Missense_Mutation_p.P5S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	5	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCCTGAAAATCCTGCTACAGG	0.259000													25	59					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18719882	18719882	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18719882G>A	ENST00000433979.1	+	28	3895		c.e28-1		PIK3C2G_ENST00000538779.1_Splice_Site|PIK3C2G_ENST00000266497.5_Splice_Site	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma						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)				TCTTAAAACAGGTTTCCTCAT	0.338000													24	63					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14792882	14792882	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14792882C>T	ENST00000380881.4	-	23	4658	c.3842_splice	c.e23-1	p.K1281_splice	FREM1_ENST00000422223.2_Splice_Site_p.K1280_splice|FREM1_ENST00000380880.3_Splice_Site_p.K1280_splice			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1280					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTCAGCCTTCCTGTAAAAAG	0.353000													10	5					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604965	160604965	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160604965C>T	ENST00000259050.3	+	5	1286	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	MARCH7_ENST00000539065.1_Silent_p.S332S|MARCH7_ENST00000409591.1_Silent_p.S350S|MARCH7_ENST00000409175.1_Silent_p.S388S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	388	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GGTTATCTTCCTCACTTAGAA	0.408000													51	109					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307836	140307836	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140307836C>T	ENST00000253807.2	+	1	1359	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.F453F|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2												p.F453F(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTTTTCGTTGCTGAAA	0.532000													47	115					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583434	119583434	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:119583434G>A	ENST00000267260.4	+	9	1408	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	340	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCACCCCAGAACAAGGGGG	0.612000													11	21					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2638124	2638124	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2638124C>T	ENST00000402050.2	+	17	1650	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	IQCE_ENST00000438376.2_Missense_Mutation_p.P473L|IQCE_ENST00000325979.7_Missense_Mutation_p.P424L|IQCE_ENST00000404984.1_Missense_Mutation_p.P438L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	489										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCTCCCACTCCCAGCAGCAGG	0.647000													88	283					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880338	209880338	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209880338C>T	ENST00000367028.2	+	5	551	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F	HSD11B1_ENST00000367027.3_Missense_Mutation_p.L128F|HSD11B1_ENST00000261465.1_Missense_Mutation_p.L128F|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	128					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TTCTTTGAATCTTTTTCATGA	0.448000													59	171					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844655	147844655	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147844655C>T	ENST00000361727.3	+	17	3143	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	876	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCACCAACCCCTCTCAACGAT	0.547000										HNSCC(39;0.1)			63	241					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649784	3649784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:3649784C>T	ENST00000382622.3	+	2	478	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.P21S	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	30					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)			GAACAGCCCCCCCTCCCAGCC	0.657000													9	108					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	11058377	11058377	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:11058377C>T	ENST00000416569.2	-	1	498	c.472G>A	c.(472-474)Gac>Aac	p.D158N	XKR6_ENST00000297303.4_Missense_Mutation_p.D158N	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	158						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TAGACGTAGTCCCCCTTGCGG	0.657000													37	106					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													29	18					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76969496	76969496	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76969496G>A	ENST00000315938.4	-	10	1049	c.799C>T	c.(799-801)Cct>Tct	p.P267S	GDPD4_ENST00000376217.2_Missense_Mutation_p.P267S	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	267	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAGAAGGCAGGGTTCTCGCAG	0.453000													75	140					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60685501	60685501	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60685501G>A	ENST00000582809.1	+	22	2327	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	TLK2_ENST00000542523.1_Missense_Mutation_p.E659K|TLK2_ENST00000326270.9_Missense_Mutation_p.E713K|TLK2_ENST00000343388.7_Missense_Mutation_p.E659K|TLK2_ENST00000346027.5_Missense_Mutation_p.E691K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	713	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGTAACACCTGAAGCAAAGGT	0.433000													23	68					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330455	25330455	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25330455G>A	ENST00000546682.1	+	0	439				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AGGTGCTAGTGGATTCCTTAG	0.498000													21	62					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900057	40900057	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40900057G>A	ENST00000324001.7	-	7	4472	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1401					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGACGGGGGACTTGGGGGC	0.692000													71	103					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95024007	95024007	+	Nonsense_Mutation	SNP	G	G	A	rs147006695	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:95024007G>A	ENST00000542556.1	-	2	104	c.94C>T	c.(94-96)Cga>Tga	p.R32*	PON3_ENST00000475439.1_5'UTR|PON3_ENST00000265627.5_Nonsense_Mutation_p.R32*|PON3_ENST00000427422.1_Nonsense_Mutation_p.R32*			P27169	PON1_HUMAN	paraoxonase 1	32					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R32*(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCCACTTCTCGAGAGGCATTC	0.448000													60	153					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029089	76029089	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76029089G>A	ENST00000319211.4	+	2	1304	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	347					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TTCCACCACAGAGGCTGCCTA	0.502000													83	133					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13522953	13522953	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:13522953C>T	ENST00000341083.3	-	6	1149	c.853G>A	c.(853-855)Gga>Aga	p.G285R	BEND7_ENST00000396898.2_Missense_Mutation_p.G350R|BEND7_ENST00000396900.2_Missense_Mutation_p.G337R|BEND7_ENST00000378605.3_Missense_Mutation_p.G298R	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	337							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCATTGAGTCCTCTTTTCCTC	0.433000													55	121					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535583	130535583	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:130535583C>T	ENST00000532763.1	-	3	297	c.168G>A	c.(166-168)ctG>ctA	p.L56L	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.L56L|SAMD3_ENST00000324172.6_Silent_p.L56L|SAMD3_ENST00000368134.2_Silent_p.L56L|SAMD3_ENST00000439090.2_Silent_p.L56L|SAMD3_ENST00000457563.2_Silent_p.L80L			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	56	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTAAATCCATCAGAACAGCCT	0.458000													79	41					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68201281	68201281	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68201281C>T	ENST00000294304.7	+	18	4081	c.3975C>T	c.(3973-3975)gaC>gaT	p.D1325D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1325	LDL-receptor class A 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTGTCAGGACCGCTCAGACG	0.716000													22	64					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350596	15350596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15350596G>A	ENST00000263377.2	-	16	3540	c.3319C>T	c.(3319-3321)Ctc>Ttc	p.L1107F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1107					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACCACCACGAGGGGCTGGGGC	0.701000			T	C15orf55	lethal midline carcinoma of young people								9	87					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107917032	107917032	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:107917032G>A	ENST00000393094.2	+	3	786	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	57					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GATGATAAAGGCCCAGCAAAA	0.323000													33	32					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145794574	145794574	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:145794574G>A	ENST00000282903.5	-	15	1849	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	PLOD2_ENST00000494950.1_Missense_Mutation_p.P503S|PLOD2_ENST00000461497.1_Missense_Mutation_p.P218S|PLOD2_ENST00000360060.3_Missense_Mutation_p.P537S|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	537					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CATACCACAGGATTTTCAAAA	0.294000													35	79					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063145	44063145	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44063145G>C	ENST00000262726.7	-	17	2075	c.1822C>G	c.(1822-1824)Ctc>Gtc	p.L608V	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L456V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCCTCCGTGAGCTTGGTTCTA	0.458000													69	122					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645367	215645367	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:215645367G>A	ENST00000260947.4	-	4	1365	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	BARD1_ENST00000449967.2_Missense_Mutation_p.P267S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	411					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTGCTGAGGGACTAGACATC	0.413000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				29	83					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61630525	61630525	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61630525T>A	ENST00000278840.4	+	8	1594	c.964T>A	c.(964-966)Ttc>Atc	p.F322I	FADS2_ENST00000522056.1_Missense_Mutation_p.F291I|FADS2_ENST00000521849.1_Missense_Mutation_p.F322I|FADS2_ENST00000257261.6_Missense_Mutation_p.F300I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	322					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGCCCTCCTTTTCCTCAACTT	0.572000													47	116					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336176	124336176	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124336176C>T	ENST00000338354.3	+	7	651	c.545C>T	c.(544-546)cCc>cTc	p.P182L	DMBT1_ENST00000368955.3_Missense_Mutation_p.P182L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P182L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P182L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P182L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P182L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P182L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	182	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGAGCTGCCCCCACAATGGC	0.577000													49	134					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139298541	139298541	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139298541G>A	ENST00000298537.7	-	8	1316	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R319W|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R392W|SDCCAG3_ENST00000461693.1_5'UTR	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	392						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ATGACCACCCGGAGGTTCTGC	0.632000													86	202					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488651	31488651	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31488651G>T	ENST00000394863.3	+	11	1270	c.1140G>T	c.(1138-1140)tcG>tcT	p.S380S	TGFB1I1_ENST00000567607.1_Silent_p.S363S|TGFB1I1_ENST00000394858.2_Silent_p.S363S|TGFB1I1_ENST00000361773.3_Silent_p.S363S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	380	LIM zinc-binding 3.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CGCCCTTCTCGGGAGGCAGCT	0.652000													11	38					0.010729	0.0107436	1	1	0
FCN1	2219	broad.mit.edu	37	9	137802992	137802992	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:137802992G>A	ENST00000371806.3	-	8	811	c.720C>T	c.(718-720)gtC>gtT	p.V240V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	240	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.V240V(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CACTGCCCCCGACAAAGGCTC	0.582000													90	209					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857285	90857285	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:90857285C>T	ENST00000394980.1	+	7	2773	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.S818S|MMRN1_ENST00000508372.1_Silent_p.S560S			Q13201	MMRN1_HUMAN	multimerin 1	818					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAAATCAGTCCAACTTCCAAA	0.363000													14	42					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576054	4576054	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:4576054G>A	ENST00000262352.3	+	9	1165	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	310					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	ATAGTCGTACGAAAGAACCCT	0.438000													45	33					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307824	10307824	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10307824G>A	ENST00000403437.2	-	22	2605	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	837					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						GCTTAATCTTGAAAAAGAGTT	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				47	100					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87365000	87365000	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:87365000G>A	ENST00000311635.7	-	9	1526	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	505					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGCTGAAGGATTTCAGCTC	0.622000													22	25					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150913058	150913058	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150913058G>A	ENST00000287844.2	-	12	1505	c.1396C>T	c.(1396-1398)Cat>Tat	p.H466Y	ABCF2_ENST00000222388.2_Missense_Mutation_p.H466Y	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	466	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTACCTGATGGTAACGCCCT	0.537000													10	237					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106974335	106974335	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:106974335G>A	ENST00000369701.3	+	18	2738	c.2511G>A	c.(2509-2511)caG>caA	p.Q837Q	SORCS3_ENST00000369699.4_Silent_p.Q123Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	837	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGCAGAGCAGGGGCACAATG	0.587000													22	39					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447442	226447442	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:226447442C>T	ENST00000272907.6	+	4	1722	c.1309C>T	c.(1309-1311)Ccc>Tcc	p.P437S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	437	Pro-rich.																CTCCACCTCTCCCTCCCCCGT	0.647000													21	41					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40568220	40568220	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40568220C>T	ENST00000455577.2	+	10	2748	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	PAK6_ENST00000453867.1_Silent_p.F657F|PAK6_ENST00000560346.1_Silent_p.F657F|PAK6_ENST00000441369.1_Silent_p.F657F|PAK6_ENST00000542403.2_Silent_p.F657F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Silent_p.F657F	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	657	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACCACCCCTTCCTGCTGCAGA	0.637000													91	158					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389570	150389570	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150389570G>A	ENST00000223293.5	+	3	290	c.196G>A	c.(196-198)Gga>Aga	p.G66R		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	66						integral to membrane	GTP binding	p.G66*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAAGTCAGGGAAGCTGGGG	0.468000													29	89					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61950618	61950618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61950618G>A	ENST00000336844.5	-	2	243	c.92C>T	c.(91-93)cCg>cTg	p.P31L	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31L|CSH2_ENST00000345366.7_Missense_Mutation_p.P31L	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	31					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCTGGATAACGGAACGGTTTG	0.602000													129	359					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937726	49937726	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49937726C>T	ENST00000257981.6	+	6	1112	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	284					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACCACATTCGTGTCCAAGT	0.597000													51	125					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29908012	29908012	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29908012G>A	ENST00000490103.1	-	18	1917	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W	THOC5_ENST00000397871.1_Missense_Mutation_p.R599W|THOC5_ENST00000397872.1_Missense_Mutation_p.R599W|THOC5_ENST00000397873.2_Missense_Mutation_p.R599W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	599					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCTTACCCGAATGTTGTCA	0.582000													20	36					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12905662	12905662	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12905662G>A	ENST00000338034.4	-	14	1472	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	ELAC2_ENST00000395962.2_Silent_p.T392T|ELAC2_ENST00000426905.3_Silent_p.T371T	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	411					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCACACTGAGGGTGGGGCCCT	0.562000													7	44					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265546	22265546	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22265546G>A	ENST00000390430.2	+	0	88																											CTGGCCCCGAGGAGAATTTCC	0.502000													6	10					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1565245	1565245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1565245C>T	ENST00000572621.1	-	24	4242	c.3977G>A	c.(3976-3978)gGc>gAc	p.G1326D	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1326D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1326						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGAGCATGCCGAGTCCACC	0.517000													4	144					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449706	138449706	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138449706C>T	ENST00000344876.4	-	3	3052	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	PCDH18_ENST00000511115.1_Missense_Mutation_p.R69Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.R100Q|PCDH18_ENST00000507846.1_Missense_Mutation_p.R668Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R888Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	889					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)					TGGAGAATCTCGCCCCAAATC	0.448000													97	200					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131602957	131602957	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:131602957C>T	ENST00000261654.5	+	19	2628	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	GPR133_ENST00000543617.1_Missense_Mutation_p.S209L|GPR133_ENST00000535015.1_Missense_Mutation_p.S722L|GPR133_ENST00000376682.4_Missense_Mutation_p.S376L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCATCATTTCACTGTCATTT	0.502000													58	145					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117309604	117309604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:117309604G>A	ENST00000321322.6	-	24	4421	c.4420C>T	c.(4420-4422)Cga>Tga	p.R1474*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.R1204*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1414	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCTCACCTCGGATGGAGCTG	0.607000													10	12					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140347223	140347223	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140347223G>A	ENST00000371475.3	-	10	1327	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	NSMF_ENST00000392812.4_Missense_Mutation_p.R343C|NSMF_ENST00000371473.3_Missense_Mutation_p.R336C|NSMF_ENST00000371468.1_Missense_Mutation_p.R99C|NSMF_ENST00000371474.3_Missense_Mutation_p.R341C|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371482.1_Missense_Mutation_p.R30C|NSMF_ENST00000371472.2_Missense_Mutation_p.R364C|NSMF_ENST00000541195.1_Missense_Mutation_p.R163C|NSMF_ENST00000437259.1_Missense_Mutation_p.R343C|NSMF_ENST00000265663.7_Missense_Mutation_p.R364C|NSMF_ENST00000339554.3_Missense_Mutation_p.R163C	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		TCATCCCGGCGGATGATAGTG	0.652000													6	12					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601563	58601563	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58601563C>T	ENST00000240727.6	-	2	471	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ZSCAN18_ENST00000601144.1_Silent_p.G24G|ZSCAN18_ENST00000600404.1_Silent_p.G80G|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	24					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGCTGCTGACCCCGGCGTGG	0.617000													44	76					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20858975	20858975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20858975G>A	ENST00000381552.1	+	4	732	c.364G>A	c.(364-366)Gga>Aga	p.G122R	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G122R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G4R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G122R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G122R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	122					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CATGGGAGTTGGAACACTGCT	0.408000													21	276					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806276	54806276	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:54806276C>T	ENST00000306858.7	+	5	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTTCCTCATCGAATTCTCAA	0.383000													21	57					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423731	47423731	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:47423731G>A	ENST00000361866.3	+	35	3005	c.2891G>A	c.(2890-2892)cGg>cAg	p.R964Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	964	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GAAGCCCAGCGGGCAGGCATC	0.672000													20	66					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113237202	113237202	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:113237202C>T	ENST00000369644.1	+	10	2284	c.1255C>T	c.(1255-1257)Cct>Tct	p.P419S	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.P475S|MOV10_ENST00000413052.2_Missense_Mutation_p.P475S|MOV10_ENST00000369645.1_Missense_Mutation_p.P475S			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	475					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATGCTCTTTCCTGTGGCACC	0.622000													27	38					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871772	23871772	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23871772C>T	ENST00000354639.3	+	24	3242	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	STK31_ENST00000428484.1_Silent_p.S926S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.S926S|STK31_ENST00000355870.3_Silent_p.S949S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	949	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTCAAATCCCTCCTCTGTA	0.358000													24	53					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119708408	119708408	+	Missense_Mutation	SNP	C	C	T	rs145808703	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:119708408C>T	ENST00000404115.3	-	2	466	c.65G>A	c.(64-66)gGt>gAt	p.G22D	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	22	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTACTCACCACCGTCTTTAGA	0.458000													62	27					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46982557	46982557	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46982557C>T	ENST00000371253.2	-	9	1002	c.787G>A	c.(787-789)Gga>Aga	p.G263R	GPR110_ENST00000283297.5_Missense_Mutation_p.G66R|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	263					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GACCCAAATCCAAAGACAATG	0.443000													31	76					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94114823	94114823	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:94114823C>G	ENST00000515393.1	-	19	2601	c.2602G>C	c.(2602-2604)Gat>Cat	p.D868H	MCTP1_ENST00000505078.1_Missense_Mutation_p.D384H|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.D561H|MCTP1_ENST00000312216.8_Missense_Mutation_p.D647H	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	868					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACCTTGTCATCTTTGTCATCT	0.423000													30	80					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128466403	128466403	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:128466403G>A	ENST00000322313.4	-	21	3787	c.3629C>T	c.(3628-3630)tCc>tTc	p.S1210F		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1210					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557000													18	67					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439908	43439908	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43439908G>A	ENST00000446844.3	-	0	167				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTTCCAGAAGTTTAAAAGTG	0.507000													11	268					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55731680	55731680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:55731680C>T	ENST00000321149.3	-	7	1250	c.883G>A	c.(883-885)Gat>Aat	p.D295N	DYX1C1_ENST00000380679.1_Missense_Mutation_p.D295N|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D295N|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D295N|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D295N	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	295					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTTCCTTTATCCTTCAACCAT	0.393000													19	49					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340720	34340720	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:34340720C>T	ENST00000257209.4	+	23	4172	c.4050C>T	c.(4048-4050)gtC>gtT	p.V1350V	FHOD3_ENST00000359247.4_Silent_p.V1333V|FHOD3_ENST00000591635.1_Silent_p.V546V|FHOD3_ENST00000592128.1_Silent_p.V329V|FHOD3_ENST00000445677.1_Silent_p.V1312V|FHOD3_ENST00000590592.1_Silent_p.V1533V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1333					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCTGGGCGTCCGCACACGCA	0.672000													19	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083938	9083938	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9083938G>A	ENST00000397910.4	-	1	8080	c.7877C>T	c.(7876-7878)cCt>cTt	p.P2626L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2626	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATTTAGAAGGTGGCGTGGA	0.488000													13	36					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774622	85774622	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:85774622G>A	ENST00000521268.1	+	6	1610	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RALYL_ENST00000523850.1_Missense_Mutation_p.G96R|RALYL_ENST00000517638.1_Missense_Mutation_p.G182R|RALYL_ENST00000521376.1_Missense_Mutation_p.G80R|RALYL_ENST00000518566.1_Missense_Mutation_p.G158R|RALYL_ENST00000521695.1_Missense_Mutation_p.G169R|RALYL_ENST00000522455.1_Missense_Mutation_p.G169R	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	169							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GACTCGCAGGGGGAAAGGAGT	0.468000													15	24					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185688	38185688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:38185688G>A	ENST00000373048.4	-	14	2454	c.2455C>T	c.(2455-2457)Cag>Tag	p.Q819*	EPHA10_ENST00000330210.7_Nonsense_Mutation_p.Q314*|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.Q819*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	819	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCAAACTGAAGTGTCTCG	0.622000													29	72					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301764	27301764	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:27301764C>T	ENST00000397501.1	+	28	2998	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	PTK2B_ENST00000420218.2_Silent_p.L730L|PTK2B_ENST00000544172.1_Silent_p.L730L|PTK2B_ENST00000517339.1_Silent_p.L730L|PTK2B_ENST00000338238.4_Silent_p.L730L|PTK2B_ENST00000397497.4_Silent_p.L476L|PTK2B_ENST00000346049.5_Silent_p.L730L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				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)		AAACCAACCTCCTGGCTCCAA	0.527000													22	60					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298844	37298844	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37298844C>T	ENST00000310758.4	-	6	1002	c.355G>A	c.(355-357)Gag>Aag	p.E119K	ELMO1_ENST00000448602.1_Missense_Mutation_p.E119K|ELMO1_ENST00000442504.1_Missense_Mutation_p.E119K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	119					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|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						TTTATAAACTCCTGGGCAAAC	0.547000													21	39					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363596	22363596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22363596G>A	ENST00000397121.2	-	3	1240	c.923C>T	c.(922-924)cCc>cTc	p.P308L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACACTTGTAGGGTTTCTCTCC	0.438000													4	138					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472979	2472979	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2472979C>T	ENST00000258711.6	+	2	840	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	235					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AGGTCAAGCTCAAGAAGTACA	0.612000													40	90					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124595719	124595719	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124595719A>G	ENST00000368904.1	-	8	1914	c.965T>C	c.(964-966)cTt>cCt	p.L322P	CUZD1_ENST00000545804.1_Missense_Mutation_p.L322P|CUZD1_ENST00000392790.1_Missense_Mutation_p.L322P			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	322	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACATCCATTAAGAGGGACAGA	0.383000													6	136					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186213	101186213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:101186213G>A	ENST00000294728.2	+	2	347	c.246G>A	c.(244-246)atG>atA	p.M82I	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.M82I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M82I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	82	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCTGACAATGAATCCTGTTA	0.463000													39	47					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722254	53722254	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53722254G>A	ENST00000536324.2	-	3	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SP7_ENST00000537210.2_Silent_p.F306F|SP7_ENST00000303846.3_Silent_p.F324F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGTTGCAGACGAAGGGCCTCT	0.617000													34	101					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429662	135429662	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135429662G>A	ENST00000394143.1	+	6	4088	c.3797G>A	c.(3796-3798)gGa>gAa	p.G1266E	GPR112_ENST00000412101.1_Missense_Mutation_p.G1061E|GPR112_ENST00000287534.4_Missense_Mutation_p.G1203E|GPR112_ENST00000394141.1_Missense_Mutation_p.G1061E|GPR112_ENST00000370652.1_Missense_Mutation_p.G1266E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1266					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATATCCCTGGGAAAAACCCCT	0.448000													62	19					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705868	35705868	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35705868T>A	ENST00000373866.3	+	2	250	c.228T>A	c.(226-228)tcT>tcA	p.S76S	ARMC12_ENST00000288065.2_Silent_p.S103S|ARMC12_ENST00000373869.3_Silent_p.S76S			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	76							binding										TCCTCAACTCTTTGGAGTGCA	0.597000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	178					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558464	159558464	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159558464G>A	ENST00000255040.2	+	2	735	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	213	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAAATCAGAGGATATGTCATC	0.483000													63	65					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228144557	228144557	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228144557A>G	ENST00000396578.3	+	29	2336	c.2174A>G	c.(2173-2175)aAa>aGa	p.K725R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	725	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTCCTGGAAAAATGGGAGAG	0.433000													10	14					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213188959	213188959	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:213188959C>T	ENST00000366962.3	-	1	209	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_5'UTR|ANGEL2_ENST00000535388.1_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	19										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		ACTGACCGGCCTCTTCCCACC	0.716000													45	119					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432520	30432520	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30432520G>A	ENST00000375978.3	-	1	900	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	276					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGTGGTGCAGGGGAGGGGGCT	0.657000													23	36					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150278072	150278072	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150278072C>T	ENST00000427179.1	-	4	286	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Silent_p.E20E|ZNF300_ENST00000446148.2_Silent_p.E36E|ZNF300_ENST00000274599.5_Silent_p.E20E			Q96RE9	ZN300_HUMAN	zinc finger protein 300	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCCACTCCTCCTGGGTGA	0.463000													77	151					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65876957	65876957	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65876957G>A	ENST00000395325.3	+	18	2645	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	DNAJC6_ENST00000371069.4_Missense_Mutation_p.E887K|DNAJC6_ENST00000263441.7_Missense_Mutation_p.E817K	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	830					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGAAGGCAAAGAAAGAAATAT	0.433000													23	58					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984601	85984601	+	Missense_Mutation	SNP	G	G	A	rs138269963		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85984601G>A	ENST00000372113.4	-	2	385	c.380C>T	c.(379-381)cCt>cTt	p.P127L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P127L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	127						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCTCAGGAGAGGGGTGGCACG	0.557000													62	151					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128784	89128784	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89128784C>T	ENST00000286614.6	-	6	1316	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	345					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTTAAAGTTCCCATCACAGA	0.458000													38	78					0	0	1	0	0
SMDT1	91689	broad.mit.edu	37	22	42477957	42477957	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42477957C>T	ENST00000331479.3	+	2	289	c.215C>T	c.(214-216)tCc>tTc	p.S72F	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		CGTGTGTTCTCCATTGTGATC	0.512000													39	82					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175447	140175447	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140175447G>A	ENST00000526136.1	+	1	898	c.898G>A	c.(898-900)Ggg>Agg	p.G300R	PCDHA2_ENST00000520672.2_Missense_Mutation_p.G300R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G300R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCATCTCAGGGGAAATCAG	0.433000													36	66					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252604	46252604	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46252604G>A	ENST00000510861.1	-	10	1250	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	GABRA2_ENST00000381620.4_Silent_p.S359S|GABRA2_ENST00000507069.1_Silent_p.S419S|GABRA2_ENST00000356504.1_Silent_p.S359S|GABRA2_ENST00000514090.1_Silent_p.S359S|GABRA2_ENST00000540012.1_Silent_p.S364S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	359					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTATCATAACGGAAGCCTTTT	0.388000													37	83					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89117923	89117923	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89117923C>T	ENST00000452230.1	-	0	59																											CTACCAGGATCCAGACCCAGA	0.468000													14	22					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26900872	26900872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26900872G>A	ENST00000226253.4	-	8	1355	c.880C>T	c.(880-882)Cga>Tga	p.R294*	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Nonsense_Mutation_p.R294*|ALDOC_ENST00000395319.3_Nonsense_Mutation_p.R266*	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	294					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCCCAGGGTCGGGGAAGGGGG	0.602000													6	221					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101470865	101470865	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101470865C>T	ENST00000259455.2	-	1	614	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	52					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGGCGGGCTGCTgggcggcgg	0.766000													3	24					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496536	24496536	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:24496536G>A	ENST00000284224.8	-	6	1296	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.S340F|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	340					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TGGACGGTGGGAATCCAGCAA	0.398000													90	152					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143212563	143212563	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:143212563G>A	ENST00000316549.6	-	11	1455	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	416					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGGAGGAAGGAGAGGGGATA	0.423000													4	107					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153144132	153144132	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:153144132G>A	ENST00000285900.5	+	12	2305	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	GRIA1_ENST00000521843.2_Silent_p.A585A|GRIA1_ENST00000448073.4_Silent_p.A664A|GRIA1_ENST00000518783.1_Silent_p.A664A|GRIA1_ENST00000340592.5_Silent_p.A654A|GRIA1_ENST00000518142.1_Silent_p.A574A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	654					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGACCTAGCGAAGCAGACAG	0.507000													15	56					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52512224	52512224	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52512224C>T	ENST00000345716.4	+	10	1233	c.1099C>T	c.(1099-1101)Cta>Tta	p.L367L	NISCH_ENST00000420808.2_Silent_p.L367L|NISCH_ENST00000479054.1_Silent_p.L367L|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000488380.1_Silent_p.L367L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	367	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGGCAACCTCCTAGAGAGTCT	0.542000													40	93					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080486	42080486	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:42080486G>A	ENST00000400454.1	-	2	732	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	85	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGGAGGGAAGGGGAAAATTT	0.493000													37	94					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67863003	67863003	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:67863003G>T	ENST00000433211.1	-	14	2063	c.1889C>A	c.(1888-1890)cCa>cAa	p.P630Q	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P630Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	630					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						CAGTTCCTCTGGGGTCTATAA	0.433000													6	73					8.12818e-05	8.15449e-05	1	1	0
RLF	6018	broad.mit.edu	37	1	40703262	40703262	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40703262C>T	ENST00000372771.4	+	8	2915	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	963					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGCTGTGGTTCCACATACAAA	0.403000													56	92					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17438295	17438295	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17438295G>A	ENST00000159087.4	-	15	2660	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	834						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCAGCCAGGGGAAGAGGCGCT	0.687000													23	28					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369979	10369979	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10369979C>T	ENST00000255381.2	-	3	194	c.84G>A	c.(82-84)caG>caA	p.Q28Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	28	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						AAGGCTTGTTCTGAGCTTCAA	0.498000													56	121					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140527	56140527	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56140527C>T	ENST00000319441.4	+	10	1700	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCK1_ENST00000543666.1_Silent_p.F195F|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	512					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAAGATCTTCCATGTCAACT	0.557000													39	76					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104814195	104814195	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:104814195C>T	ENST00000369878.3	+	3	1999	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	CNNM2_ENST00000457502.2_Silent_p.L383L|CNNM2_ENST00000433628.2_Silent_p.L625L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	625					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACAGCTCCTCCTGGCCATGC	0.483000											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	42					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325336	158325336	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158325336G>A	ENST00000444681.2	+	2	598	c.305G>A	c.(304-306)gGg>gAg	p.G102E	CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G199E|CD1E_ENST00000368160.3_Missense_Mutation_p.G201E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G201E|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G201E|CD1E_ENST00000368163.3_Missense_Mutation_p.G201E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	201			H -> R (in allele CD1E*05; dbSNP:rs2873587).		antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGGAAGCAGGGGAGTCAGAA	0.453000													30	38					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588632	20588632	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20588632C>T	ENST00000428453.1	-	0	4118																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACTGAGTTCATTCTTCTTA	0.408000													12	102					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100976537	100976537	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100976537G>A	ENST00000193391.7	-	10	1176	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	330	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.S330C(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCTTGTTGGAGTGAAGGCT	0.433000													46	82					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973999	128973999	+	Missense_Mutation	SNP	C	C	T	rs142627987	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:128973999C>T	ENST00000522781.1	-	4	1216	c.661G>A	c.(661-663)Gat>Aat	p.D221N	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.D221N	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	221								p.D221Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGCTGGTAATCGGGCTCTTCG	0.622000													22	41					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171917638	171917638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171917638G>A	ENST00000442919.2	-	4	830	c.215C>T	c.(214-216)tCc>tTc	p.S72F	TLK1_ENST00000431350.2_Missense_Mutation_p.S120F|TLK1_ENST00000360843.3_Missense_Mutation_p.S120F|TLK1_ENST00000521943.1_Missense_Mutation_p.S72F|TLK1_ENST00000434911.2_Missense_Mutation_p.S24F|TLK1_ENST00000486857.1_5'UTR	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	120					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTCCCCTGGATGATTCCGA	0.343000													25	69					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207839	21207839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:21207839G>A	ENST00000342679.4	+	8	919	c.670G>A	c.(670-672)Gat>Aat	p.D224N	MAP2K3_ENST00000316920.6_Missense_Mutation_p.D195N|MAP2K3_ENST00000361818.5_Missense_Mutation_p.D195N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	224	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGACGATGGATGCCGGCTG	0.602000													4	109					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165379970	165379970	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:165379970G>A	ENST00000359842.5	-	6	1184	c.882C>T	c.(880-882)acC>acT	p.T294T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	294	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGTCCTCCAAGGTGAGGTCAG	0.463000													5	79					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323410	17323410	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:17323410C>T	ENST00000529010.1	+	5	591	c.372C>T	c.(370-372)tcC>tcT	p.S124S	NUCB2_ENST00000323688.6_Silent_p.S124S|NUCB2_ENST00000458064.2_Silent_p.S124S	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	124						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTTGGATTCCCTTCAAGGTA	0.378000													27	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430699	25430699	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25430699C>T	ENST00000424208.1	+	0	560					NR_003305.1																						TCCTGTCATCCTGGTATCCTG	0.582000													54	117					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23869929	23869929	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23869929C>T	ENST00000405093.3	-	13	1469	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	MYH6_ENST00000356287.3_Missense_Mutation_p.E467K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	467	Myosin head-like.				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	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TCGAAGATCTCGAAGCCAGCG	0.552000													28	53					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771711	45771711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45771711C>T	ENST00000327619.5	+	10	1276	c.902C>T	c.(901-903)tCc>tTc	p.S301F	EYA2_ENST00000357410.3_Missense_Mutation_p.S301F|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	301					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCACGACGTCCGTGCGCATT	0.493000													32	54					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772120	24772120	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24772120G>A	ENST00000221166.5	+	1	1596	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	NEFM_ENST00000437366.2_Missense_Mutation_p.E272K|NEFM_ENST00000518131.1_Missense_Mutation_p.E272K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	272	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCTGAAGGAAATCCGCTC	0.602000													40	47					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386594	98386594	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98386594G>A	ENST00000339364.5	-	10	1659	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.H336Y|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.H113Y	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	514						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCACCGTGTGATAAACATCT	0.547000													67	101					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16893235	16893235	+	Splice_Site	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:16893235T>G	ENST00000377833.4	-	60	9727	c.9663_splice	c.e60+1	p.K3221_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3221	CUB 24.				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)	CAGCCTTACCTTTACATAATC	0.353000													29	77					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82871078	82871078	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:82871078C>T	ENST00000248306.3	+	11	1735	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S		NM_032230.2	NP_115606.2			methyltransferase like 25																		TGTACTGGCTCCCTGTATAGA	0.279000													35	87					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165381523	165381523	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:165381523C>T	ENST00000263915.3	-	5	1207	c.669G>A	c.(667-669)caG>caA	p.Q223Q	GRB14_ENST00000543549.1_Silent_p.Q136Q	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	223					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTGCAAAATCTGTGTGGGGG	0.279000													32	74					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365897	175365897	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175365897G>A	ENST00000367674.1	-	5	1731	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	TNR_ENST00000263525.2_Silent_p.S341S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	341	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCTCAATGGACCTGTCGC	0.607000													53	192					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833274	116833274	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:116833274G>A	ENST00000368599.3	+	1	466	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	139						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGGACTCCTGGAACTGATTTG	0.478000													50	31					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763327	92763327	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92763327A>G	ENST00000318238.4	-	5	3174	c.1958T>C	c.(1957-1959)tTg>tCg	p.L653S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L653S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L653S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	653										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTGCAGTCAAGACATCCTC	0.398000													42	145					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356668	149356668	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:149356668G>A	ENST00000355292.3	-	2	1707	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	NR3C2_ENST00000512865.1_Missense_Mutation_p.P449S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P449S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P449S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P449S|NR3C2_ENST00000342437.4_Missense_Mutation_p.P449S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	449	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AATGGAAACGGGTTTACTGTT	0.388000													32	80					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524713	10524713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10524713C>T	ENST00000396560.2	+	3	463	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S79F|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S79F|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S79F	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TCATTGGACTCTAATAAAAAT	0.348000													21	49					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122820477	122820477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:122820477G>A	ENST00000245838.8	-	8	720	c.689C>T	c.(688-690)tCt>tTt	p.S230F	THOC2_ENST00000355725.4_Missense_Mutation_p.S230F|THOC2_ENST00000491737.1_Missense_Mutation_p.S115F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	230					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTAACAAAGATATAAAGAA	0.363000													4	89					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714486	65714486	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65714486G>A	ENST00000532620.1	+	0	514							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGAGTCTGAAGAGTAAGCAGC	0.607000													4	63					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201838770	201838770	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201838770C>T	ENST00000361565.4	+	17	2126	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	686					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTCCCCTTTCCCAGCTTCTC	0.478000													13	144					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611341	179611341	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179611341C>T	ENST00000360870.5	-	46	16008	c.15786G>A	c.(15784-15786)ggG>ggA	p.G5262G	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8781	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGCTTCCCCTATGATGT	0.423000													39	59					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911039	59911039	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59911039C>T	ENST00000396065.1	+	3	1050	c.602C>T	c.(601-603)tCc>tTc	p.S201F	GCNT3_ENST00000560585.1_Missense_Mutation_p.S201F	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	201					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTCCTGGTCCAGGGTGCAA	0.483000													67	116					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26547226	26547226	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26547226G>A	ENST00000256737.3	+	7	1589	c.737_splice	c.e7+1	p.R246_splice	ANO3_ENST00000531568.1_Splice_Site_p.R100_splice|ANO3_ENST00000525139.1_Splice_Site_p.R230_splice|ANO3_ENST00000537978.1_Splice_Site_p.R230_splice	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	246						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCAATGGGCAGGTTGGTGGGT	0.338000													19	27					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100603978	100603978	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:100603978C>T	ENST00000544450.2	+	10	1323	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	EVL_ENST00000392920.3_Missense_Mutation_p.S343F|EVL_ENST00000402714.2_Missense_Mutation_p.S341F			Q9UI08	EVL_HUMAN	Enah/Vasp-like	341	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TCGATTCTGTCCAGGTGAGCT	0.597000													37	65					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797031	127797031	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:127797031C>T	ENST00000556132.1	-	6	3004	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	SOGA3_ENST00000481848.2_Missense_Mutation_p.E714K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E714K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E714K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E714K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	714						integral to membrane											CCGCTGAGCTCGTTGATCTGC	0.657000													52	108					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35252326	35252326	+	Splice_Site	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:35252326C>A	ENST00000360310.1	-	16	2677	c.2111_splice	c.e16+1	p.G704_splice	BAZ1A_ENST00000358716.4_Splice_Site_p.G672_splice|BAZ1A_ENST00000382422.2_Splice_Site_p.G704_splice	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	704	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAACCATACCCAATAGATATA	0.313000													20	29					1.2644e-06	1.2699e-06	1	1	0
MSX1	4487	broad.mit.edu	37	4	4864663	4864663	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:4864663G>A	ENST00000382723.4	+	2	939	c.705G>A	c.(703-705)ctG>ctA	p.L235L	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	229					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGGCAGAGCTGGAGAAGCTGA	0.657000													4	76					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101061526	101061526	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101061526C>T	ENST00000259455.2	-	17	2981	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	841					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGTGAAGTTTCCCAGGTTGAG	0.478000													91	216					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879756	33879756	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33879756G>A	ENST00000374408.3	-	1	448	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	118										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGGCCATGGGGAAGTAAGTC	0.677000													53	110					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809174	5809174	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5809174G>A	ENST00000317078.1	-	1	872	c.873C>T	c.(871-873)aaC>aaT	p.N291N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACAATAGGGTTCATTGTGG	0.393000													54	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047166	9047166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9047166C>T	ENST00000397910.4	-	5	34668	c.34465G>A	c.(34465-34467)Gcc>Acc	p.A11489T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11491	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						AGCTGTATGGCTGTTGTCTCT	0.493000													41	132					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254813	3254813	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3254813C>T	ENST00000304646.2	+	1	567	c.567C>T	c.(565-567)tgC>tgT	p.C189C	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AACTCTCCTGCTCAGACACAC	0.498000													49	105					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89834114	89834114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89834114G>A	ENST00000370456.4	+	2	97	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	2							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTTGCCATGGAATCTGGACC	0.443000													32	69					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224624	248224624	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248224624C>T	ENST00000359959.3	+	1	641	c.641C>T	c.(640-642)tCa>tTa	p.S214L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGCTATTTCATGTTCCTAT	0.512000													67	218					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346620	23346620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23346620C>T	ENST00000359591.4	+	7	2717	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	676	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCGGAGCCCCCCTGGACCCCA	0.662000													37	66					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15580076	15580076	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:15580076T>A	ENST00000427411.1	-	19	2586	c.2370A>T	c.(2368-2370)gaA>gaT	p.E790D	ACE2_ENST00000252519.3_Missense_Mutation_p.E790D|ACE2_ENST00000471548.1_5'UTR	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	790					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTGGATTATTTTCTCCTTTGC	0.323000													6	138					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122349	141122349	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141122349C>T	ENST00000389484.3	-	72	11983	c.11012G>A	c.(11011-11013)gGa>gAa	p.G3671E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3671					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)		ACATATATTTCCTCCTTTATT	0.378000										TSP Lung(27;0.18)			36	91					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118906646	118906646	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:118906646G>A	ENST00000264234.3	+	3	243	c.94G>A	c.(94-96)Gag>Aag	p.E32K	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.80_80insK|UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Missense_Mutation_p.E32K	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	32					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CCTGACTGCGGAGTGCATCTT	0.552000													85	157					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444046	150444046	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150444046C>T	ENST00000401000.4	+	10	2609	c.2544C>T	c.(2542-2544)tcC>tcT	p.S848S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S874S|RPRD2_ENST00000539519.1_Silent_p.S848S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	874	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAATTCTGTCCAGTTATAGCC	0.498000													65	71					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239628	3239628	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3239628C>T	ENST00000217939.6	-	5	4252	c.4098G>A	c.(4096-4098)aaG>aaA	p.K1366K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1366						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)				AGGATTCTTCCTTAAATTCTC	0.463000													13	29					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2259472	2259472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2259472C>T	ENST00000562360.1	-	5	673	c.674G>A	c.(673-675)gGc>gAc	p.G225D	BRICD5_ENST00000328540.3_Intron					BRICHOS domain containing 5																		GGCGAGGGTGCCGTGAATCTC	0.632000													55	93					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736040	30736040	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30736040T>G	ENST00000262518.4	+	25	5680	c.5295T>G	c.(5293-5295)gcT>gcG	p.A1765A	SRCAP_ENST00000344771.4_Silent_p.A1607A|SRCAP_ENST00000395059.2_Silent_p.A1703A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1765	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cagccccagctcacacgctga	0.622000													10	77					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201823994	201823994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201823994C>T	ENST00000361565.4	+	8	923	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	285					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACATGGTGTCCTCCATGCAG	0.408000													54	64					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50282133	50282133	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:50282133A>G	ENST00000404971.1	-	21	5227	c.3888T>C	c.(3886-3888)taT>taC	p.Y1296Y	NRXN1_ENST00000405472.3_Silent_p.Y1248Y|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000401669.2_Silent_p.Y1256Y|NRXN1_ENST00000402717.3_Silent_p.Y1248Y|NRXN1_ENST00000401710.1_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACCAAGTCGATATGGAATTC	0.343000													10	16					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111962553	111962553	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:111962553G>A	ENST00000374566.3	-	20	2525	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	670						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCGGGGAGGCTTGATTTCC	0.393000													20	61					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240195	167240195	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167240195C>T	ENST00000308378.3	-	12	1931	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.K367K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGAAATTTCCTTTTGAATCT	0.318000													31	54					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802151	27802151	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27802151A>T	ENST00000408964.2	+	1	2763	c.2712A>T	c.(2710-2712)gaA>gaT	p.E904D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	904										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCACTATGGAAAGGAAGCTTT	0.428000													5	164					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123808290	123808290	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123808290G>A	ENST00000420886.2	-	15	2061	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	SBNO1_ENST00000602750.1_Missense_Mutation_p.P687S|SBNO1_ENST00000602398.1_Missense_Mutation_p.P688S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P687S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	688							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGTTACTTGGAGCTGTCAAA	0.383000													22	49					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007527	62007527	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62007527G>A	ENST00000006750.3	-	3	429	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.R114W	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	113	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCCTCAAACCGGATGCCTTGG	0.572000			"""Mis, O"""		DLBCL								8	122					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	812732	812732	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:812732C>T	ENST00000566549.1	+	2	469	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MSLN_ENST00000563941.1_Missense_Mutation_p.L18F|MSLN_ENST00000382862.3_Missense_Mutation_p.L18F|MSLN_ENST00000545450.2_Missense_Mutation_p.L18F			Q13421	MSLN_HUMAN	mesothelin	18				TPAL -> DRP (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GACCCCCGCCCTCGGCAGCCT	0.692000													5	280					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928496	98928496	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98928496G>A	ENST00000477737.1	+	27	3939		c.e27+1		VWA3B_ENST00000490947.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAGCCCAGGGTTTGGGTGAT	0.602000													7	13					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519767	131519767	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:131519767C>T	ENST00000423981.1	+	2	232	c.122C>T	c.(121-123)cCa>cTa	p.P41L	AMER3_ENST00000321420.4_Missense_Mutation_p.P41L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCAGTCCTTCCAGGAGGGCAA	0.647000													10	20					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990405	205990405	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:205990405G>A	ENST00000406610.2	+	10	1585	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	PARD3B_ENST00000349953.3_Missense_Mutation_p.E460K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E460K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E460K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E460K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	460	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAGCAGGGGGAGACAGCATC	0.498000													49	95					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421082	11421082	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11421082C>T	ENST00000381842.3	-	0	138				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.532000													40	80					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362379	87362379	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87362379G>A	ENST00000327946.7	-	16	2766	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F	GRID1_ENST00000536331.1_Missense_Mutation_p.S465F|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	894						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGACGCTGGGGAAATCTGCTT	0.592000										Multiple Myeloma(13;0.14)			11	28					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206743	6206743	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6206743G>A	ENST00000262450.3	-	10	1671	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	524	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCACCCAGGAGCAATGCC	0.652000													25	49					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78842419	78842419	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78842419G>A	ENST00000545128.1	+	21	3165	c.2626_splice	c.e21-1	p.G876_splice		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	876	PLAC.				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	extracellular space|Golgi lumen|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						TGTTCCCCAGGAGAATATGTT	0.527000													14	20					0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850173	37850173	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:37850173C>T	ENST00000341016.3	+	1	104	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	27							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCTACAGGTCCCTAGGAGCT	0.468000													23	13					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153918	41153918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41153918C>T	ENST00000263413.3	-	15	2548	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	C6_ENST00000337836.5_Missense_Mutation_p.E762K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	762	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCACCTTTTTCACAGGTGAGA	0.478000													27	103					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103271299	103271299	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:103271299T>C	ENST00000374879.4	+	3	751	c.319T>C	c.(319-321)Tat>Cat	p.Y107H	TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y68H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.L70S	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CCATACAAATTATATTCCTGT	0.343000													37	75					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111643893	111643893	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:111643893G>A	ENST00000502935.1	-	9	881	c.762C>T	c.(760-762)ctC>ctT	p.L254L	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Silent_p.L140L|XPNPEP1_ENST00000369680.4_Silent_p.L211L|XPNPEP1_ENST00000322238.8_Silent_p.L254L			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	211					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTGATCCTCGGAGATTAAATA	0.463000											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	101					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552679	95552679	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:95552679C>T	ENST00000568768.1	-	0	476																											CCTCATGTATCTCTGCCCAGG	0.368000													27	39					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685772	100685772	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100685772G>A	ENST00000306151.4	+	3	11139	c.11075G>A	c.(11074-11076)gGa>gAa	p.G3692E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3692	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)					CCTAGTGAAGGAAGCACTCCA	0.522000													121	387					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26790008	26790008	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26790008C>T	ENST00000376236.4	+	5	876	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	APBB1IP_ENST00000356785.4_Silent_p.L141L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	141	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGACCTTCCACTGCCACCACC	0.507000													77	126					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891839	167891839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167891839G>A	ENST00000265293.4	+	21	3524	c.3022G>A	c.(3022-3024)Gag>Aag	p.E1008K	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.E1014K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1008	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATTGACCCAGGAGATCTCGGT	0.607000													27	62					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58145287	58145287	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:58145287G>A	ENST00000295956.4	+	42	7060	c.6895G>A	c.(6895-6897)Gga>Aga	p.G2299R	FLNB_ENST00000358537.3_Missense_Mutation_p.G2275R|FLNB_ENST00000429972.2_Missense_Mutation_p.G2288R|FLNB_ENST00000419752.2_Missense_Mutation_p.G2119R|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2258R|FLNB_ENST00000493452.1_Missense_Mutation_p.G2106R|FLNB_ENST00000490882.1_Missense_Mutation_p.G2330R	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2299	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCAGGAATCGGGATTAAAAGT	0.502000													35	88					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640092	51640092	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:51640092C>T	ENST00000375695.2	+	5	1662	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	MAGED1_ENST00000375772.3_Silent_p.N447N|MAGED1_ENST00000326587.7_Silent_p.N447N|MAGED1_ENST00000375722.1_Silent_p.N447N|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	447	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTCGCCTAACCTGCGCCCTT	0.602000										Multiple Myeloma(10;0.10)			14	11					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891610	44891610	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44891610C>T	ENST00000330997.4	-	4	861	c.797G>A	c.(796-798)gGa>gAa	p.G266E	ZNF285_ENST00000591679.1_Missense_Mutation_p.G273E|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G266E	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AAAGTTCTTTCCATACTGGTC	0.433000													67	143					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208522	106208522	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106208522G>A	ENST00000390548.2	-	0	377																											GTTTTGGGGGGAAGAGGAAGA	0.612000													32	72					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432994	47432994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47432994C>T	ENST00000285039.7	-	19	2508	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	737	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGAACTTGTCGGGGTCCTTT	0.552000													19	64					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201182679	201182679	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201182679G>A	ENST00000335211.4	+	12	8788	c.8658G>A	c.(8656-8658)agG>agA	p.R2886R	IGFN1_ENST00000295591.8_Silent_p.R46R|IGFN1_ENST00000451870.2_Silent_p.R429R	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATGGAGAGAGGAGAGATGCTA	0.562000													6	192					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114310926	114310926	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:114310926G>A	ENST00000261441.5	-	5	1807	c.1744C>T	c.(1744-1746)Cat>Tat	p.H582Y		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	582						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCAGCATGAGCTCTAGTC	0.438000													38	81					0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410571	32410571	+	Nonstop_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32410571T>G	ENST00000382822.2	-	1	224	c.192A>C	c.(190-192)tgA>tgC	p.*64C		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	0						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						AGTTCACTCTTCAGTAGAAGG	0.473000													38	145					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770670	25770670	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25770670G>A	ENST00000377905.4	+	5	709	c.590G>A	c.(589-591)aGg>aAg	p.R197K	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	197					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCACTGGAAAGGAGTCAACTC	0.468000													50	189					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220111939	220111939	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220111939G>C	ENST00000409638.3	+	4	583	c.411G>C	c.(409-411)gaG>gaC	p.E137D	STK16_ENST00000409743.1_Missense_Mutation_p.E137D|STK16_ENST00000396738.2_Missense_Mutation_p.E137D|STK16_ENST00000409260.1_Missense_Mutation_p.E182D|STK16_ENST00000409516.3_Intron|STK16_ENST00000486813.1_3'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	137	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCCTTGAGGCCATTCATG	0.567000													9	83					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68609866	68609866	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:68609866C>T	ENST00000396496.2	-	3	419	c.312G>A	c.(310-312)tcG>tcA	p.S104S	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Silent_p.S103S|CCDC125_ENST00000396499.1_Silent_p.S104S|CCDC125_ENST00000511257.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	104						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATTCTGAATTCGAATCTACTT	0.308000													53	109					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940674	21940674	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21940674G>A	ENST00000328843.6	+	83	13405	c.13374G>A	c.(13372-13374)aaG>aaA	p.K4458K	CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Silent_p.K4451K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4458					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCGTCTCAAGGAGCTGGCAT	0.532000									Kartagener syndrome				85	192					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225374	192225374	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:192225374C>T	ENST00000392318.3	+	8	827	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	MYO1B_ENST00000304164.4_Missense_Mutation_p.R194W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R194W|MYO1B_ENST00000339514.4_Missense_Mutation_p.R194W	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	194	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAGAAATCTCGGGTTGTTAA	0.388000													13	241					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021641	132021641	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:132021641C>T	ENST00000356920.5	+	15	2707	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	871	Actin-like.						ATP binding										GGAATGCCCTCCCCCATGCCA	0.622000													40	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061816	9061816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9061816G>A	ENST00000397910.4	-	3	25833	c.25630C>T	c.(25630-25632)Cct>Tct	p.P8544S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8546	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATCTCCAGGAGTTCTACTC	0.502000													4	85					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468454	86468454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86468454G>A	ENST00000361669.2	+	4	2723	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	GRM3_ENST00000546348.1_Missense_Mutation_p.D134N|GRM3_ENST00000536043.1_Missense_Mutation_p.D414N|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	542					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATACCTGGCTGATGAGTTTAC	0.532000													104	212					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838474	155838474	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155838474G>A	ENST00000490337.1	+	1	138	c.74G>A	c.(73-75)gGg>gAg	p.G25E	KCNAB1_ENST00000389636.5_Missense_Mutation_p.G25E	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	25						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACAGTCTGGGTTTTCTGTA	0.542000													63	123					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728980	127728980	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:127728980C>T	ENST00000508053.1	-	16	2287	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	FBN2_ENST00000508989.1_Missense_Mutation_p.G405E|FBN2_ENST00000262464.4_Missense_Mutation_p.G438E			P35556	FBN2_HUMAN	fibrillin 2	438					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCATTTCCCCCAGTGCCTCC	0.537000													37	81					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273567	10273567	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10273567C>T	ENST00000304886.2	+	5	409	c.201C>T	c.(199-201)atC>atT	p.I67I	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	67	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGAACCATATCAACCAAGACA	0.423000													46	97					0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219229381	219229381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219229381G>A	ENST00000289388.3	+	7	690	c.661G>A	c.(661-663)Gac>Aac	p.D221N	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	221										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCCAGGTAGACCATCAGCA	0.592000													49	101					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113092365	113092365	+	Silent	SNP	G	G	A	rs150695313	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:113092365G>A	ENST00000393845.2	-	18	2403	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	WDR52_ENST00000295868.2_Silent_p.F779F	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	779										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CACAAGGGGGGAACTCACAGT	0.383000													25	40					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36990135	36990135	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36990135G>A	ENST00000274963.8	+	13	1618	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	483					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCACTGCCGGGCCTGCGGCTA	0.667000													25	66					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103463909	103463909	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103463909C>T	ENST00000358392.2	-	25	2506	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G679E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G602E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G718E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	718	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGTTTTCCTTGTGGTCC	0.308000													14	51					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78804067	78804067	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78804067G>A	ENST00000545128.1	+	19	2976	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K	PCSK5_ENST00000376752.4_Missense_Mutation_p.R813K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	813	CRM (Cys-rich motif).				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	extracellular space|Golgi lumen|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						GAGGATGGGAGATGCGTGCAG	0.473000													34	70					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103450924	103450924	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:103450924C>T	ENST00000376004.4	-	1	433	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	33						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCCATATTTCGCTCTTCTCC	0.517000													6	55					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667447	133667447	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133667447G>A	ENST00000310926.4	-	8	1311	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	SLCO2A1_ENST00000493729.1_Silent_p.S270S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	346					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGAGGAAGGTGGAGAGGCCAG	0.572000													79	135					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139237068	139237068	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:139237068G>A	ENST00000450536.2	-	14	2221	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P	REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Silent_p.P548P|REPS1_ENST00000367663.4_Silent_p.P522P|REPS1_ENST00000415951.2_Silent_p.P522P			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	549	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCCTTGGAGGGGGAGGTGGTG	0.453000													32	97					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193056676	193056676	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:193056676G>A	ENST00000409056.3	-	2	211	c.212C>T	c.(211-213)aCc>aTc	p.T71I	TMEFF2_ENST00000392314.1_Missense_Mutation_p.T71I|TMEFF2_ENST00000272771.5_Missense_Mutation_p.T71I			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	71						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGTTGGTGTCACAGAG	0.343000													17	45					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474466	145474466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145474466C>T	ENST00000323397.4	+	4	2431	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	380	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTCCCTCTCCGCGCCAGTC	0.706000													8	35					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33203920	33203920	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33203920A>G	ENST00000374820.2	-	6	513	c.493T>C	c.(493-495)Ttt>Ctt	p.F165L	PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Missense_Mutation_p.F185L			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	185					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AAGGCAAGAAAAATAGCACTG	0.458000													22	58					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650408	232650408	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:232650408G>A	ENST00000366630.1	-	2	1036	c.678C>T	c.(676-678)gtC>gtT	p.V226V	SIPA1L2_ENST00000262861.4_Silent_p.V226V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	226					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.V226V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCCAAAAGGGACCATTGCTT	0.468000													7	232					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861459	10861459	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10861459G>A	ENST00000254488.2	+	3	520	c.454G>A	c.(454-456)Gca>Aca	p.A152T	SLC6A11_ENST00000454147.1_Missense_Mutation_p.A152T	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	152					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CATCATCCTGGCATGGGCCAT	0.493000													62	144					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6182788	6182788	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6182788G>A	ENST00000261405.5	-	8	1248	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	332	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCATTACCAGGGCAGCTGCAG	0.532000													8	107					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894831	139894831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:139894831G>A	ENST00000458420.3	+	2	338	c.148G>A	c.(148-150)Gga>Aga	p.G50R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	50	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCATATCATGGAGTCATAAC	0.393000										HNSCC(16;0.037)			36	69					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945803	72945803	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:72945803C>T	ENST00000311131.2	+	3	1066	c.599C>T	c.(598-600)tCa>tTa	p.S200L	P2RY2_ENST00000393597.2_Missense_Mutation_p.S200L|P2RY2_ENST00000393596.2_Missense_Mutation_p.S200L	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	200					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCTACAGCTCAGTCATGCTG	0.647000													25	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458093	179458093	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179458093G>A	ENST00000589042.1	-	299	59066	c.58842C>T	c.(58840-58842)atC>atT	p.I19614I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.I10674I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I17973I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17046I|TTN_ENST00000460472.2_Silent_p.I10549I|TTN_ENST00000342175.6_Silent_p.I10741I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17973	Ig-like 109.						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)			TCTTTTCCAGGATGTAGTTTG	0.398000													62	120					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150555962	150555962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150555962G>A	ENST00000493429.1	+	5	2266	c.1682G>A	c.(1681-1683)tGg>tAg	p.W561*	AOC1_ENST00000467291.1_Nonsense_Mutation_p.W561*|AOC1_ENST00000416793.2_Nonsense_Mutation_p.W561*|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Nonsense_Mutation_p.W561*					amine oxidase, copper containing 1																		CAGTACTCCTGGGAGCGCCAG	0.602000													10	47					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141483372	141483372	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141483372C>T	ENST00000262999.3	-	5	859	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	262					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GTTGGTCCTTCGTTAGTGAAC	0.438000													15	134					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45415183	45415183	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45415183G>A	ENST00000558996.1	-	2	84	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DUOXA1_ENST00000560572.1_Silent_p.F10F|DUOXA1_ENST00000267803.4_Silent_p.F10F|DUOXA1_ENST00000559014.1_Silent_p.F10F|DUOXA1_ENST00000558422.1_Silent_p.F10F|DUOXA1_ENST00000430224.2_Silent_p.F10F	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	10					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGCCAGCATAGAAGGGGAATG	0.517000													36	59					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87029224	87029224	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:87029224C>T	ENST00000340353.7	+	12	1259	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	TMEM135_ENST00000305494.5_Missense_Mutation_p.P375S|TMEM135_ENST00000532959.1_Missense_Mutation_p.P246S|TMEM135_ENST00000535167.1_Missense_Mutation_p.P236S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	375						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCCCTATTTTCCTCATGCAGA	0.343000													7	121					0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714036	9714036	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:9714036G>A	ENST00000377320.3	-	2	454	c.305C>T	c.(304-306)cCc>cTc	p.P102L	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		ggcccagacgggaggatcact	0.552000													7	17					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447966	11447966	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11447966G>A	ENST00000222120.3	-	2	370	c.110C>T	c.(109-111)tCc>tTc	p.S37F	RAB3D_ENST00000589655.1_Missense_Mutation_p.S37F	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	37					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GAACAGGAAGGAAGTCTTGCC	0.547000													11	471					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350708	101350708	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101350708C>T	ENST00000534062.1	-	1	476	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	140										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTTCAGGTCAGTGTGAGCC	0.542000													5	10					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079376	10079376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10079376C>T	ENST00000264828.3	-	58	4266	c.4181G>A	c.(4180-4182)gGa>gAa	p.G1394E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1394	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)			GCCAGTGTCTCCCTTCAGCCC	0.582000													8	11					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142523366	142523366	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142523366A>G	ENST00000273482.6	+	11	2337	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S	TRPC1_ENST00000476941.1_Missense_Mutation_p.N683S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	683					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCACCTTTCAACATCATTCCC	0.383000													38	60					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682829	218682829	+	Missense_Mutation	SNP	C	C	T	rs141992593	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:218682829C>T	ENST00000171887.4	-	24	4366	c.3914G>A	c.(3913-3915)gGa>gAa	p.G1305E	TNS1_ENST00000419504.1_Missense_Mutation_p.G1292E|TNS1_ENST00000430930.1_Missense_Mutation_p.G1284E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1305						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)		TCCAGACCCTCCGAGGTGACG	0.657000													10	28					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21462843	21462843	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:21462843C>T	ENST00000417816.2	-	0	273					NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGCCCCGCACCGCCTCCTGG	0.806000													8	12					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159640821	159640821	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:159640821G>A	ENST00000393980.4	+	3	276	c.130G>A	c.(130-132)Gga>Aga	p.G44R	FABP6_ENST00000393982.1_Missense_Mutation_p.G44R	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G44R(1)		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)			GACACATAAAGGAAAGGTATG	0.478000													24	51					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034864	70034864	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70034864G>A	ENST00000370598.1	+	21	3736	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	BAI3_ENST00000238918.8_Missense_Mutation_p.G178E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	972					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTGTAACTGGAAAAATTAGG	0.413000													11	127					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131826374	131826374	+	Missense_Mutation	SNP	G	G	A	rs150152490		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131826374G>A	ENST00000286355.5	-	14	4946	c.2854C>T	c.(2854-2856)Cgg>Tgg	p.R952W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	952					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)			AAGATATTCCGGAGCATGTTC	0.552000										HNSCC(32;0.087)			68	95					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121391475	121391475	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:121391475G>A	ENST00000260197.7	+	9	1450	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	441					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATGAGATCGGTCATCACCTT	0.438000													26	25					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819091	43819091	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43819091G>A	ENST00000382031.1	+	5	6165	c.6134G>A	c.(6133-6135)gGa>gAa	p.G2045E	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1807E|MAP1A_ENST00000300231.5_Missense_Mutation_p.G1807E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1807						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGATGGTTGGACAAAGGGTT	0.547000													73	154					0	0	1	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622318	106622318	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106622318G>A	ENST00000390604.2	-	0	101																											ATACCAGCAAGAAAAACCCAG	0.453000													37	101					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659444	152659444	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152659444C>T	ENST00000368780.3	+	2	179	c.125C>T	c.(124-126)cCt>cTt	p.P42L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P42L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	42	Cys-rich.|Pro-rich.				keratinization			p.P42L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTCCCCTGCAGTCTCT	0.627000													12	504					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262561	25262561	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25262561G>A	ENST00000218548.6	+	4	666	c.333G>A	c.(331-333)atG>atA	p.M111I	ATP12A_ENST00000381946.3_Missense_Mutation_p.M111I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	111					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCAAGCAGATGGTGGGGGGGT	0.592000													228	385					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238423	3238423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3238423G>A	ENST00000217939.6	-	5	5457	c.5303C>T	c.(5302-5304)tCc>tTc	p.S1768F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1768						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)				CCTGTTGTAGGAACCTGGAAT	0.522000													33	7					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678906	130678906	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:130678906C>T	ENST00000338616.3	+	1	957	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GTTGAACCCCCTGATATATAG	0.393000													49	29					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142455355	142455355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142455355C>T	ENST00000273482.6	+	2	698	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	TRPC1_ENST00000476941.1_Missense_Mutation_p.L103F	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	103					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTGCAGCTTCTTTTGGACTA	0.373000													54	136					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207146584	207146584	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207146584G>A	ENST00000374423.3	+	3	397	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	4							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						ATGCAGAAAAGACAAGGATAT	0.338000													12	35					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644927	39644927	+	Missense_Mutation	SNP	T	T	A	rs147215531		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39644927T>A	ENST00000393986.2	-	3	571	c.359A>T	c.(358-360)aAt>aTt	p.N120I	KRT36_ENST00000328119.6_Missense_Mutation_p.N170I			O76013	KRT36_HUMAN	keratin 36	170	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGCTTGGCATTATCAATCTG	0.577000													41	111					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338606	122338606	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122338606C>T	ENST00000340112.2	-	1	604	c.367G>A	c.(367-369)Gga>Aga	p.G123R	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	123	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCACTGGCTCCCTTCTCAGTT	0.458000													69	229					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	739795	739795	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:739795G>A	ENST00000584307.1	-	9	1247	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	YES1_ENST00000577961.1_Silent_p.F364F|YES1_ENST00000314574.4_Silent_p.F359F			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	359	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTCCTTAAGGAAATCTAATA	0.343000													37	39					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882048	156882048	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156882048C>T	ENST00000338302.3	+	17	2186	c.1961C>T	c.(1960-1962)cCa>cTa	p.P654L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P654L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	654						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATGCCCTCCAGGACACTGG	0.592000													37	44					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998464	92998464	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:92998464C>T	ENST00000523629.1	-	9	1621	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	RUNX1T1_ENST00000520724.1_Silent_p.L352L|RUNX1T1_ENST00000360348.2_Silent_p.L352L|RUNX1T1_ENST00000396218.1_Silent_p.L362L|RUNX1T1_ENST00000265814.3_Silent_p.L389L|RUNX1T1_ENST00000518844.1_Silent_p.L362L|RUNX1T1_ENST00000422361.2_Silent_p.L352L|RUNX1T1_ENST00000436581.2_Silent_p.L400L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	389					generation of precursor metabolites and energy	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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCAGTAATTCAATTCTTCCC	0.507000													5	184					0	0	1	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193356	20193356	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20193356C>T	ENST00000558565.2	-	0	14																											AAACCCAGCTCAGCCCAAACT	0.493000													108	188					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:55024414C>T	ENST00000324000.3	+	3	2607	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	191					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.F191F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTGCAATTTCGCCCCTACGG	0.403000													38	91					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381683	121381683	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121381683G>A	ENST00000297848.3	+	47	5540	c.5270G>A	c.(5269-5271)gGa>gAa	p.G1757E	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1757E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1662E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1757	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCCAGCCTGGATATTGTGAC	0.562000													50	91					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701378	5701378	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5701378C>T	ENST00000305836.5	-	2	332	c.30G>A	c.(28-30)aaG>aaA	p.K10K	TRIM5_ENST00000396847.3_Silent_p.K10K|TRIM5_ENST00000396855.3_Silent_p.K10K|TRIM5_ENST00000380034.3_Silent_p.K10K|TRIM5_ENST00000380027.1_Silent_p.K10K|TRIM5_ENST00000396853.4_Silent_p.K10K			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	10					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCACCTCCTCCTTTACATTAA	0.547000													33	38					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717558	109717558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109717558G>A	ENST00000299162.5	-	10	1576	c.1472C>T	c.(1471-1473)cCg>cTg	p.P491L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P311L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	491					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CACACTGTCCGGAGTGGAGTA	0.632000													9	8					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688977	55688977	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55688977C>T	ENST00000358433.2	-	1	39	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTGTCAATCCTAGGAGAATG	0.343000													9	86					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424998	1424998	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:1424998G>A	ENST00000446702.2	+	19	3050	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G808E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G736E			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCCAAGGGGAACTTCTCTC	0.438000													119	232					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423240	26423240	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26423240G>A	ENST00000335473.7	+	43	7550	c.7300G>A	c.(7300-7302)Gaa>Aaa	p.E2434K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2434K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2435K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2434						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						CCTCGACTACGAACGCAAGAC	0.562000													7	172					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932117	32932117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:32932117C>T	ENST00000383763.4	+	4	1484	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	474					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCATCAAGTCTTTTGGCTTT	0.612000													48	117					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24909320	24909320	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24909320T>G	ENST00000413389.2	+	5	1877	c.284T>G	c.(283-285)gTg>gGg	p.V95G	UPB1_ENST00000326010.5_Missense_Mutation_p.V163G			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	163	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATGGTGGTGGTGTCTCCCATC	0.458000													8	98					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1387520	1387520	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1387520G>A	ENST00000359786.5	-	2	477	c.153C>T	c.(151-153)ttC>ttT	p.F51F	MYO1C_ENST00000438665.2_Silent_p.F32F|MYO1C_ENST00000545534.2_Silent_p.F27F|MYO1C_ENST00000575158.1_Silent_p.F16F|MYO1C_ENST00000361007.2_Silent_p.F16F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	51	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP 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)		CCAGCAGCACGAAATCCTGCA	0.632000													17	46					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705962	65705962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:65705962C>T	ENST00000304842.5	+	2	975	c.550C>T	c.(550-552)Cga>Tga	p.R184*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	184					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGATGGTCCGAGATGGCCG	0.413000													29	126					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132670	91132670	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:91132670G>A	ENST00000373094.1	+	2	2276	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	PCDH11X_ENST00000361724.1_Silent_p.E477E|PCDH11X_ENST00000373088.1_Silent_p.E477E|PCDH11X_ENST00000373097.1_Silent_p.E477E|PCDH11X_ENST00000395337.2_Silent_p.E477E|PCDH11X_ENST00000361655.2_Silent_p.E477E|PCDH11X_ENST00000298274.8_Silent_p.E477E|PCDH11X_ENST00000406881.1_Silent_p.E477E|PCDH11X_ENST00000504220.1_Silent_p.E477E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	477	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTATTCCTGAGAATAACTCTC	0.438000													45	34					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209307097	209307097	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:209307097C>T	ENST00000272847.2	+	5	633	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	140						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGCAAGAATTCTTTGAACGCC	0.388000													60	127					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107236423	107236423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107236423G>A	ENST00000379119.2	+	4	470	c.456G>A	c.(454-456)atG>atA	p.M152I	BCAP29_ENST00000005259.4_Missense_Mutation_p.M152I|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_Missense_Mutation_p.M58I|BCAP29_ENST00000379121.2_Missense_Mutation_p.M58I|BCAP29_ENST00000379117.2_Missense_Mutation_p.M152I|BCAP29_ENST00000445771.2_Missense_Mutation_p.M152I	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	152					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAAAATTTATGGAAGAAAACG	0.318000													25	139					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157369323	157369323	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157369323G>A	ENST00000389413.3	-	18	2781	c.2678C>T	c.(2677-2679)tCc>tTc	p.S893F	PTPRN2_ENST00000404321.2_Missense_Mutation_p.S945F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S905F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S884F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S922F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	922	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCAGGAGGGACCTTGAGGA	0.647000													4	28					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808289	20808289	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20808289C>T	ENST00000601440.1	-	4	540	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGGTTAAGTTCATTATAACCT	0.323000													45	113					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139916431	139916431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139916431G>A	ENST00000265662.5	-	7	737	c.590C>T	c.(589-591)cCc>cTc	p.P197L	ABCA2_ENST00000341511.6_Missense_Mutation_p.P197L|ABCA2_ENST00000371605.3_Missense_Mutation_p.P196L|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	196					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCAGATGAGGGACCAAAGAG	0.647000													6	11					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198649	233198649	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:233198649C>T	ENST00000325385.7	+	17	2386	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R704C	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	704							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTCGCCCATCCGCCGCTTTGC	0.672000													54	127					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141756716	141756716	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141756716G>A	ENST00000475668.2	+	30	3721	c.3667G>A	c.(3667-3669)Gag>Aag	p.E1223K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1223K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1223	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCGACTCCAGAGCTTGTCAC	0.488000													4	85					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183963	197183963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:197183963C>T	ENST00000260983.2	-	9	1833	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	HECW2_ENST00000409111.1_Missense_Mutation_p.E195K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	551					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCGCCTTCACCTTCCTCT	0.582000													35	59					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426882	111426882	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111426882G>A	ENST00000393934.3	+	2	843	c.273G>A	c.(271-273)atG>atA	p.M91I	PLCXD2_ENST00000477665.1_Missense_Mutation_p.M91I	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	91	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGAAGCTAATGAAGAAGTGGT	0.522000													34	65					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10291085	10291085	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10291085G>A	ENST00000340748.4	-	4	621	c.386C>T	c.(385-387)cCc>cTc	p.P129L	DNMT1_ENST00000359526.4_Missense_Mutation_p.P129L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P129L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	129	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AAGGGGTTTGGGGGGGCTGTT	0.502000													8	155					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581061	7581061	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7581061C>T	ENST00000379802.3	+	23	4979	c.4638C>T	c.(4636-4638)tcC>tcT	p.S1546S	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1546	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)		AAAGGGTTTCCCAGGAGAGGA	0.512000													117	152					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218172	244218172	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:244218172C>T	ENST00000358704.4	+	2	1245	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		CAGTCTGCTCCCCTACGTCTC	0.617000													37	55					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61019382	61019382	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:61019382C>T	ENST00000238714.3	+	17	1886	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	546					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTAATTCTCCAGCGTCCAAG	0.413000													30	73					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33842379	33842379	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:33842379C>T	ENST00000389232.4	+	10	904	c.834C>T	c.(832-834)atC>atT	p.I278I	RYR3_ENST00000415757.3_Silent_p.I278I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	278	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGTAACATCAGATGGGGCC	0.468000													17	27					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555601	50555601	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50555601C>T	ENST00000267845.3	-	2	437	c.35G>A	c.(34-36)aGa>aAa	p.R12K	HDC_ENST00000543581.1_Missense_Mutation_p.R12K	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	12					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CACCATCTCTCTCCCTAGAAG	0.572000													12	34					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285291	223285291	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223285291C>T	ENST00000540964.1	-	4	1544	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	TLR5_ENST00000342210.6_Silent_p.K361K			O60602	TLR5_HUMAN	toll-like receptor 5	361					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGTAGGCTACCTTAGGTAGTC	0.378000													76	90					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2824746	2824746	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:2824746C>T	ENST00000442312.2	+	3	484	c.305C>T	c.(304-306)tCc>tTc	p.S102F	SH3BP2_ENST00000435136.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000503393.2_Missense_Mutation_p.S131F|SH3BP2_ENST00000389838.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000511747.1_Missense_Mutation_p.S74F|SH3BP2_ENST00000356331.5_Missense_Mutation_p.S74F	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	74	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GGCGCCTTCTCCCTGAGTGGC	0.657000									Cherubism				14	33					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52485914	52485914	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:52485914C>T	ENST00000216286.5	-	14	2892	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	NID2_ENST00000541773.1_Missense_Mutation_p.E864K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	965	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCCCTGCTCGTCGCATTGG	0.607000													23	44					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740493	37740493	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37740493C>T	ENST00000539465.1	+	15	2561	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.L478L|FRMPD1_ENST00000377765.3_Silent_p.L656L|FRMPD1_ENST00000541302.1_Silent_p.L525L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	656						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTGGCTTCCTCTGTCTCCTGG	0.577000													21	39					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66972097	66972097	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66972097G>A	ENST00000340001.4	-	39	5045	c.4834C>T	c.(4834-4836)Ccc>Tcc	p.P1612S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P1574S|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1612					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCACCGAGGGATCAAAGTCC	0.413000													4	53					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273855	10273855	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10273855C>T	ENST00000396573.2	-	3	723	c.414_splice	c.e3+1	p.K138_splice	GRIN2A_ENST00000330684.3_Splice_Site_p.K138_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.K138_splice|GRIN2A_ENST00000404927.2_Splice_Site_p.K138_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.K138_splice	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	138					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGGCCTTACCTTGTCAGCCA	0.577000													20	41					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113994189	113994189	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113994189G>A	ENST00000429538.3	-	8	1081	c.887C>T	c.(886-888)cCc>cTc	p.P296L	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P296L|PAX8_ENST00000263334.5_Missense_Mutation_p.P296L|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	296					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCCACCACGGGGTAGGTCTG	0.687000			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	6					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47116008	47116008	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:47116008G>A	ENST00000216264.8	-	3	466	c.354C>T	c.(352-354)acC>acT	p.T118T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	118	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCCCGCAGGGTCTGCAGCC	0.572000													46	92					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787308	169787308	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169787308G>A	ENST00000263817.6	-	25	3402	c.3278C>T	c.(3277-3279)tCg>tTg	p.S1093L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1093	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGAACTTGCGAGTCAGGTCG	0.453000													14	24					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342097	101342097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:101342097C>T	ENST00000344327.3	-	9	2650	c.2226G>A	c.(2224-2226)tgG>tgA	p.W742*	TRPC6_ENST00000532133.1_Nonsense_Mutation_p.W664*|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.W626*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.W687*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	742					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGCAAATTTCCACTCCACAT	0.433000													26	38					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112945	18112945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:18112945G>T	ENST00000403915.1	+	3	1121	c.670G>T	c.(670-672)Gga>Tga	p.G224*	KCNS3_ENST00000304101.4_Nonsense_Mutation_p.G224*|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	224					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGCTGGAAGGAGTGGAGAT	0.567000													44	79					2.35958e-20	2.38408e-20	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29600554	29600554	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29600554C>T	ENST00000431530.3	+	1	1807	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	573						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TAGTTCCACCCCCTACTGATA	0.537000													43	99					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985422	36985422	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36985422C>T	ENST00000282516.8	+	10	2639	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P714S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	714					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCCTGAGACTCCAAAACAAAA	0.458000													30	144					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89169489	89169489	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:89169489C>T	ENST00000332810.3	+	2	200	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	AEN_ENST00000379231.3_Missense_Mutation_p.L17F	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	17					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGCCCTTCCCTCACCATCCC	0.602000													22	30					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45578	45578	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:45578C>T	ENST00000327669.4	-	1	807	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	270						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCCTGCAGCCCCTCGTCGTCG	0.657000													22	54					0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63645538	63645538	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:63645538G>A	ENST00000496807.1	+	3	273	c.271G>A	c.(271-273)Gag>Aag	p.E91K	SNTN_ENST00000343837.3_Missense_Mutation_p.E95K			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	95						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						GAATTTCGCAGAGGTGAGAGA	0.423000													7	133					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39081786	39081786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39081786C>T	ENST00000209718.3	-	7	1386	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	KRT23_ENST00000436344.3_Missense_Mutation_p.R184Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	321	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCAGGAGTACCGAGACTGGGT	0.453000													17	41					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323090	233323090	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:233323090C>G	ENST00000295463.3	+	9	1232	c.1155C>G	c.(1153-1155)ggC>ggG	p.G385G		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	385					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTTTGGTGGCTACACCTTGC	0.587000													16	39					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274811	29274811	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29274811G>A	ENST00000377160.2	+	1	409	c.345G>A	c.(343-345)gtG>gtA	p.V115V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCTCACAGTGATGTCTTATG	0.448000													37	182					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128205000	128205000	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:128205000C>T	ENST00000341105.2	-	3	772	c.441G>A	c.(439-441)ggG>ggA	p.G147G	GATA2_ENST00000487848.1_Silent_p.G147G|GATA2_ENST00000430265.2_Silent_p.G147G	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	147					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CTCCCCCGCTCCCACCCCCAG	0.682000			Mis		AML(CML blast transformation)								4	11					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661383	46661383	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46661383T>G	ENST00000544460.1	+	1	5772	c.5518T>G	c.(5518-5520)Tct>Gct	p.S1840A	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1840A	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1840					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)			GGTGCCGCTTTCTCCTGATGA	0.393000													63	161					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44286633	44286633	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:44286633G>A	ENST00000329255.3	-	4	1110	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	336					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGGGGGTGGGCATGAGGGGA	0.672000													32	50					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931072	157931072	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157931072C>T	ENST00000389413.3	-	7	1149	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R372Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R332Q|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R311Q|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R349Q	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGGCTGCCTCGAGCTACTCC	0.672000													38	152					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303974	151303974	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:151303974G>A	ENST00000370323.4	-	4	435	c.119C>T	c.(118-120)tCa>tTa	p.S40L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S40L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	40										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTGGATGATGAAGCATC	0.562000													42	18					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836720	142836720	+	Silent	SNP	C	C	T	rs147384445	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142836720C>T	ENST00000291009.3	+	4	466	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	142						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTATTGAAATCCTAAAGGTAG	0.413000													78	304					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207515	56207515	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:56207515G>A	ENST00000288221.6	-	4	1363	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	370						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTCTTGGCTGGCTCCGGCTGA	0.483000													25	55					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94043015	94043015	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94043015C>T	ENST00000297268.6	+	27	2042	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	524					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTCCAGGTCCTGATGGAAAC	0.443000										HNSCC(75;0.22)			8	182					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561778	32561778	+	Missense_Mutation	SNP	C	C	T	rs115598823	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:32561778C>T	ENST00000345122.3	+	2	2218	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R635W|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R635W|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R635W	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	635					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTTGATCTTCGGCCGGTTGA	0.423000													64	116					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699120	17699120	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:17699120T>A	ENST00000399080.2	-	1	586	c.563A>T	c.(562-564)aAa>aTa	p.K188I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	188										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGATTTTCTTTGTGAACATT	0.343000													6	81					0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6728261	6728261	+	Missense_Mutation	SNP	G	G	A	rs146603349		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6728261G>A	ENST00000297439.3	-	2	313	c.149C>T	c.(148-150)cCg>cTg	p.P50L		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	50					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		GGTAAAGATCGGGCAGGCAGA	0.493000													54	84					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99408012	99408012	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:99408012G>A	ENST00000305798.3	-	3	558	c.156C>T	c.(154-156)tcC>tcT	p.S52S	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	52						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GATCGGTGATGGAAGAGATGT	0.502000													65	110					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648265	112648265	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:112648265C>T	ENST00000471858.1	-	3	455	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	CD200R1_ENST00000440122.2_Missense_Mutation_p.E98K|CD200R1_ENST00000295863.4_Missense_Mutation_p.E53K|CD200R1_ENST00000308611.3_Missense_Mutation_p.E98K|CD200R1_ENST00000490004.1_Missense_Mutation_p.E75K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	75	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGATTATTTCCCATGTTATT	0.413000													32	75					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173472451	173472451	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:173472451C>T	ENST00000367714.3	-	27	3747	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1109					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGTTCAAAGACCGTGTTGACT	0.294000													30	47					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98735991	98735991	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98735991G>A	ENST00000477737.1	+	4	511	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E103K|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	103										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCTAAATCAGAACTGATTTA	0.413000													13	110					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710288	140710288	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140710288C>T	ENST00000517417.1	+	1	37	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	PCDHGA1_ENST00000378105.3_Silent_p.L13L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCAGGCTGATGCTTCT	0.493000													74	118					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684106	6684106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6684106C>T	ENST00000321535.4	+	2	1049	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	307										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						GCAGGAGATCCCGATCAGGAG	0.532000													27	46					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514925	233514925	+	Missense_Mutation	SNP	G	G	A	rs76363344	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233514925G>A	ENST00000366624.3	+	9	2434	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	MLK4_ENST00000366622.1_Missense_Mutation_p.G171R	NM_032435.2	NP_115811.2																					AGCTCTGTATGGGTGCACCGT	0.537000													39	112					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116395411	116395411	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:116395411T>C	ENST00000397752.3	+	6	1904	c.1704T>C	c.(1702-1704)gtT>gtC	p.V568V	MET_ENST00000318493.6_Silent_p.V568V|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Silent_p.V568V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	568	IPT/TIG 1.				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)			CCTTGTAGGTTTTCCCAAATA	0.328000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	131					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25373700	25373700	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25373700T>A	ENST00000255324.5	+	12	1619	c.1567T>A	c.(1567-1569)Tct>Act	p.S523T	RNF17_ENST00000255325.5_Missense_Mutation_p.S524T|RNF17_ENST00000381921.1_Missense_Mutation_p.S523T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	523					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTTGGAAATTCTGAAGTCCT	0.353000													42	62					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414396	46414396	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46414396G>A	ENST00000343801.4	+	3	360	c.3G>A	c.(1-3)atG>atA	p.M1I	CCR5_ENST00000445772.1_Start_Codon_SNP_p.M1I|CCR5_ENST00000292303.4_Start_Codon_SNP_p.M1I|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	1					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GGAACAAGATGGATTATCAAG	0.383000													65	121					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688010	60688010	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:60688010G>A	ENST00000335712.6	-	4	2264	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S	BCL11A_ENST00000358510.4_Silent_p.S645S|BCL11A_ENST00000538214.1_Silent_p.S645S|BCL11A_ENST00000356842.4_Silent_p.S679S|BCL11A_ENST00000537768.1_Silent_p.S348S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	679					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCGATTGTCTGGAGTCTCCGA	0.647000			T	IGH@	B-CLL								42	95					0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95646241	95646241	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95646241G>A	ENST00000473204.1	+	0	2157																											TAGGGCAGAGGGGGATGCCCA	0.552000													33	91					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352442	103352442	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103352442C>T	ENST00000358392.2	-	63	5132	c.4815G>A	c.(4813-4815)atG>atA	p.M1605I	COL11A1_ENST00000353414.4_Missense_Mutation_p.M1554I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M1477I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M1593I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1593	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGAAATTTCATATGCTCAA	0.408000													56	116					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807178	22807178	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:22807178G>A	ENST00000361524.3	-	4	852	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF521_ENST00000584787.1_Missense_Mutation_p.S15F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S235F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	235					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCCATCCTGGAACCGGACTG	0.507000			T	PAX5	ALL								28	67					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686001	125686001	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:125686001G>A	ENST00000371126.1	-	1	833	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	197										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGACGGCGAAGATCCAGTCCT	0.672000													4	45					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949253	58949253	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58949253C>T	ENST00000423743.3	+	22	3093	c.2835C>T	c.(2833-2835)gcC>gcT	p.A945A	KIAA0586_ENST00000556134.1_Silent_p.A974A|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.A1042A|KIAA0586_ENST00000261244.5_Silent_p.A913A	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	913										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGTGGCGCCCTCCAGCTTT	0.373000													12	35					0	0	1	0	0
MIR143	406935	broad.mit.edu	37	5	148808497	148808497	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:148808497C>T	ENST00000385300.1	+	0	17					NR_029684.1																						CGCCCTGTCTCCCAGCCTGAG	0.617000													15	31					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351746	74351746	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:74351746G>A	ENST00000226355.3	+	4	531	c.438G>A	c.(436-438)gaG>gaA	p.E146E		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	146	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCCCGAAGAGAAATGCCAGG	0.383000													39	79					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190269	209190269	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:209190269C>T	ENST00000264380.4	+	20	2892	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	912					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGTTCCATCCCCTGGGATCC	0.502000													39	84					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121739553	121739553	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:121739553T>C	ENST00000264808.3	-	5	845	c.605A>G	c.(604-606)aAg>aGg	p.K202R	PRDM5_ENST00000515109.1_Missense_Mutation_p.K202R|PRDM5_ENST00000428209.2_Missense_Mutation_p.K202R	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	202					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCACAGTTCTTGCACTTAAA	0.378000													5	73					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38122049	38122049	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38122049C>T	ENST00000406386.3	+	7	3741	c.3486C>T	c.(3484-3486)acC>acT	p.T1162T	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1162					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			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)					ACATCCCCACCCCTGTGTGCA	0.622000													42	123					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25356041	25356041	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25356041G>A	ENST00000255324.5	+	6	622	c.570G>A	c.(568-570)gtG>gtA	p.V190V	RNF17_ENST00000255325.5_Silent_p.V190V|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.V190V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	190					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGAAGTTGTGGAGAAACAGT	0.328000													31	49					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83243757	83243757	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:83243757C>T	ENST00000398309.2	-	16	2342	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	DLG2_ENST00000280241.8_Silent_p.S663S|DLG2_ENST00000418306.2_Silent_p.S521S|DLG2_ENST00000543673.1_Silent_p.S729S|DLG2_ENST00000531015.1_Silent_p.S591S|DLG2_ENST00000426717.2_Silent_p.S106S|DLG2_ENST00000537455.1_Silent_p.S378S|DLG2_ENST00000404783.3_Silent_p.S106S|DLG2_ENST00000524982.1_Silent_p.S624S|DLG2_ENST00000330014.6_Silent_p.S563S|DLG2_ENST00000376104.2_Silent_p.S729S|DLG2_ENST00000376106.3_Silent_p.S106S|DLG2_ENST00000530800.1_Silent_p.S133S|DLG2_ENST00000398304.1_Silent_p.S106S|DLG2_ENST00000532653.1_Silent_p.S624S	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	624						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTACCCCTTTCGAATCAATCA	0.373000													33	62					0	0	1	0	0
OR6W1P	89883	broad.mit.edu	37	7	142759842	142759842	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142759842G>A	ENST00000496192.1	-	0	684					NR_002140.1															central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GGCATCCAGAGGAGGAAGGGA	0.562000													4	25					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31839317	31839317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31839317C>T	ENST00000544672.1	-	8	619	c.323G>A	c.(322-324)tGg>tAg	p.W108*	SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W184*|SLC44A4_ENST00000375562.4_Nonsense_Mutation_p.W142*	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	184						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AACGTTGGTCCATGGAAAGCA	0.657000													46	47					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936581	40936581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40936581G>A	ENST00000313164.9	+	5	781	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	141	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAACTTACTGGAAATGGGTAA	0.403000													9	38					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059978	158059978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:158059978G>A	ENST00000264428.4	+	7	898	c.628G>A	c.(628-630)Gat>Aat	p.D210N	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.D210N|GLRB_ENST00000509282.1_Missense_Mutation_p.D210N	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	210					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.D210N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CACAACTGATGATTTACGATT	0.259000													28	73					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125601992	125601992	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:125601992C>T	ENST00000241305.3	-	4	680	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	176	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AAATCATTTTCATTAATGCCC	0.448000													21	37					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677132	100677132	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100677132C>T	ENST00000306151.4	+	3	2499	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	812	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)					ACAAGTATACCTGTCAGCATC	0.478000													197	679					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41057410	41057410	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41057410C>T	ENST00000399564.4	-	8	1259	c.809G>A	c.(808-810)aGg>aAg	p.R270K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTCAAGCTCCTTGGAAGGCC	0.423000													5	14					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232003466	232003466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:232003466C>T	ENST00000308696.6	+	17	2062	c.1900C>T	c.(1900-1902)Cca>Tca	p.P634S	PSMD1_ENST00000373635.4_Missense_Mutation_p.P634S|PSMD1_ENST00000409643.1_Missense_Mutation_p.P634S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	634					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGAACAGTGCCCAAGTGTTGT	0.433000													38	86					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21075589	21075589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21075589C>T	ENST00000255882.6	-	43	5199	c.5113G>A	c.(5113-5115)Gac>Aac	p.D1705N	PI4KA_ENST00000414196.3_Missense_Mutation_p.D457N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D1647N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1647	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				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)			TACTCACGGTCTTTCTGGTGG	0.522000													9	166					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99061620	99061620	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:99061620C>T	ENST00000376586.2	+	14	1779	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	FARP1_ENST00000595437.1_Silent_p.S481S|FARP1_ENST00000319562.6_Silent_p.S481S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	481					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTTTCCGAGCTGTCTG	0.517000													12	66					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37605165	37605165	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37605165G>A	ENST00000434837.2	-	17	4025	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	MDGA1_ENST00000297153.7_Silent_p.F953F	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	949					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACGCCAAGAGGAAGATGGCCA	0.632000													26	109					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786663	67786663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67786663C>T	ENST00000422365.2	+	3	368	c.197C>T	c.(196-198)cCt>cTt	p.P66L	MCMDC2_ENST00000492775.1_Missense_Mutation_p.P66L|MCMDC2_ENST00000396592.3_Missense_Mutation_p.P66L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.P66L|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Intron	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	66					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTACACCAACCTTTAAAAGCT	0.308000													33	90					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57770972	57770972	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57770972G>A	ENST00000371030.2	+	2	3787	c.3787G>A	c.(3787-3789)Gag>Aag	p.E1263K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1263						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGGTGTCTGAGCCAGAATG	0.498000													100	213					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862783	10862783	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:10862783G>A	ENST00000559480.1	+	0	79																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGTGCAGTCTGGGGCTGAGGT	0.572000													49	331					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202157	22202157	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22202157G>A	ENST00000374695.3	-	25	3346	c.3267C>T	c.(3265-3267)atC>atT	p.I1089I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1089	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGATGCTCGGATCAGGAGGG	0.667000													11	156					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	773002	773002	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:773002C>T	ENST00000293889.6	-	13	1322	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	406										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCAGCTGTGCCCGCTCCCGTT	0.652000													19	59					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2335471	2335471	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2335471G>A	ENST00000301732.5	-	23	4155	c.3455C>T	c.(3454-3456)tCc>tTc	p.S1152F	ABCA3_ENST00000382381.3_Missense_Mutation_p.S1094F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1152					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GATGAGGAAGGAGATGAGGTC	0.642000													11	17					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99328755	99328755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99328755C>T	ENST00000336374.2	-	2	94	c.92G>A	c.(91-93)gGa>gAa	p.G31E		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	31					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTTAAAAAGTCCATGTGTACG	0.438000													30	124					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617464	158617464	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158617464G>A	ENST00000368148.3	-	27	3941	c.3761C>T	c.(3760-3762)cCa>cTa	p.P1254L	SPTA1_ENST00000368147.3_Missense_Mutation_p.P1254L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1254					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)					AGTGGCATCTGGATGGGACTC	0.532000													50	70					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81358988	81358988	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:81358988G>A	ENST00000222390.5	-	8	1199	c.973C>T	c.(973-975)Cca>Tca	p.P325S	HGF_ENST00000457544.2_Missense_Mutation_p.P320S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	325	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGCTGACATGGAATTCCATTC	0.418000													59	152					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586484	169586484	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169586484G>A	ENST00000263686.6	-	3	300	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SELP_ENST00000458599.2_Missense_Mutation_p.S88F|SELP_ENST00000367792.2_Missense_Mutation_p.S88F|SELP_ENST00000367788.2_Missense_Mutation_p.S88F|SELP_ENST00000367794.2_Missense_Mutation_p.S88F|SELP_ENST00000367791.2_Missense_Mutation_p.S88F|SELP_ENST00000367786.2_Missense_Mutation_p.S88F|SELP_ENST00000367793.2_Missense_Mutation_p.S88F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	88	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCAGTAGTAGGAGCTGTAGTA	0.438000													129	208					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8888036	8888036	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:8888036C>T	ENST00000256707.3	-	25	3690	c.3509G>A	c.(3508-3510)aGa>aAa	p.R1170K	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1170K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1170K|KIDINS220_ENST00000418530.1_Intron	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1170					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTCTGATCTCTGGGCAAACT	0.393000													36	66					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14262009	14262009	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14262009C>T	ENST00000340736.6	-	24	4398	c.4101G>A	c.(4099-4101)gaG>gaA	p.E1367E	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.E1362E|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1367					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGCGCCGTCCTCGGCCGTGC	0.687000													14	29					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535448	90535448	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90535448C>T	ENST00000602681.1	+	0	1352																											GAACGCCCCTCACCCGAGCCA	0.632000													146	259					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900822	202900822	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:202900822C>T	ENST00000286201.1	+	1	1513	c.1452C>T	c.(1450-1452)atC>atT	p.I484I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	484					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCGCCACCATCGTCCTGGCCT	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	88					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50759450	50759450	+	Missense_Mutation	SNP	G	G	A	rs104895457		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50759450G>A	ENST00000300589.2	+	10	3038	c.2933G>A	c.(2932-2934)gGa>gAa	p.G978E		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	978					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTCGCAGAAGGACTGAAGAAA	0.413000													35	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516473	179516473	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179516473G>A	ENST00000589042.1	-	206	39607	c.39383C>T	c.(39382-39384)aCc>aTc	p.T13128I	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T11621I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T10694I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11481	Ig-like 87.						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)			AGGTGGTACGGTCACTAAAGA	0.433000													21	25					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627156	43627156	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:43627156G>A	ENST00000332857.6	-	4	1559	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		ATCAGGGATGGAAAAGCAGGA	0.507000													201	436					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855285	4855285	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:4855285G>A	ENST00000379333.1	-	10	1274	c.882C>T	c.(880-882)ctC>ctT	p.L294L	SLC23A2_ENST00000338244.1_Silent_p.L294L|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.L180L	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	294					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATAAATCGGGAGAGGAAATT	0.388000													60	111					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088580	86088580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:86088580C>T	ENST00000330753.4	+	2	1489	c.722C>T	c.(721-723)tCg>tTg	p.S241L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S241L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	241					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTACGTAATTCGCTGTCCCAC	0.502000													48	92					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40934527	40934527	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40934527C>T	ENST00000313164.9	+	4	598	c.239C>T	c.(238-240)cCa>cTa	p.P80L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	80	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGAGGATGTCCAACAGAGGAG	0.468000													46	154					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909721	32909721	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:32909721G>A	ENST00000304056.4	-	4	1807	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGCTTTATGCGGACAAAAAGC	0.423000													15	180					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861867	52861867	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:52861867G>A	ENST00000343457.3	-	4	1327	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	441						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGGCGCAGATGGGTCTCTGGG	0.547000													43	97					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680000	44680000	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44680000A>C	ENST00000590089.1	+	7	952	c.585A>C	c.(583-585)aaA>aaC	p.K195N	ZNF226_ENST00000337433.5_Missense_Mutation_p.K195N|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.K195N			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	195				K -> E (in Ref. 1; AAF34786).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TAAAAAATAAATTATGTCAAT	0.368000													28	33					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280038	22280038	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22280038G>A	ENST00000390431.3	+	0	227																											AATGACAAGGGAAGGAACAAA	0.458000													28	52					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46206238	46206238	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46206238C>T	ENST00000012049.5	+	7	1301	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	QPCTL_ENST00000366382.4_Silent_p.L266L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	360					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGGTCAATCTCCACCCACCCA	0.587000													57	91					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	193775	193775	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:193775C>G	ENST00000398612.1	+	4	576	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	ZNF596_ENST00000522866.1_3'UTR|ZNF596_ENST00000308811.4_Missense_Mutation_p.L65V|ZNF596_ENST00000320552.2_Intron	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AGTAGAGAAACTTTCAACACA	0.433000													46	77					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20209000	20209000	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:20209000C>T	ENST00000245957.5	+	18	2116	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000389656.3_Silent_p.F36F|C20orf26_ENST00000377309.2_Silent_p.F36F|C20orf26_ENST00000377293.1_Silent_p.F36F	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	680										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)		GAATTTCCTTCCTAGAGACAT	0.338000													9	262					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954480	75954480	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75954480G>A	ENST00000274364.6	+	21	2814	c.2517G>A	c.(2515-2517)agG>agA	p.R839R	IQGAP2_ENST00000502745.1_Silent_p.R335R|IQGAP2_ENST00000396234.3_Silent_p.R335R|IQGAP2_ENST00000379730.3_Silent_p.R341R	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	839					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAAGAACAGGATCACACTAG	0.473000													36	62					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080939	148080939	+	Missense_Mutation	SNP	C	C	T	rs147706292		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:148080939C>T	ENST00000361727.3	+	22	4190	c.3674C>T	c.(3673-3675)tCg>tTg	p.S1225L	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S284L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1225					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCCCCATGTCGTCCGCCACC	0.607000										HNSCC(39;0.1)			42	31					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129861438	129861438	+	Silent	SNP	G	G	A	rs148187282		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:129861438G>A	ENST00000254667.3	+	10	996	c.717G>A	c.(715-717)agG>agA	p.R239R	PTPRE_ENST00000419012.2_Silent_p.R239R|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.R181R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	239	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGAAAGAAAGGAAAGAGGTGA	0.502000													16	46					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55050423	55050423	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55050423C>G	ENST00000371316.3	+	2	211	c.129C>G	c.(127-129)aaC>aaG	p.N43K	ACOT11_ENST00000343744.2_Missense_Mutation_p.N43K|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	43	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GATACCGGAACCCCACGGAGG	0.637000													26	64					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47872754	47872754	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47872754G>A	ENST00000289672.2	-	41	6321	c.6271C>T	c.(6271-6273)Cat>Tat	p.H2091Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2091					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCAGCCCCATGAACCTGCAGC	0.587000													12	34					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767166	73767166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73767166C>T	ENST00000373115.4	+	3	814	c.377C>T	c.(376-378)cCg>cTg	p.P126L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	126					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CCGCCCAGACCGGCCGTGGCG	0.682000													10	25					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341330	39341330	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39341330C>T	ENST00000263408.4	-	4	489	c.394G>A	c.(394-396)Gat>Aat	p.D132N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCACAATCATCCTCATCTGAA	0.473000													54	337					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655851	12655851	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12655851G>A	ENST00000425538.1	+	10	1446	c.1246G>A	c.(1246-1248)Ggg>Agg	p.G416R	MYOCD_ENST00000343344.4_Missense_Mutation_p.G416R|MYOCD_ENST00000395988.1_Missense_Mutation_p.G320R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	416					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCGAACTTTGGGGATATAAC	0.552000													45	78					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183142	39183142	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39183142C>T	ENST00000361883.5	-	1	312	c.266G>A	c.(265-267)aGc>aAc	p.S89N		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	89	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TCCGCAGGAGCTGATCTGGCA	0.632000													25	49					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065015	55065015	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55065015T>A	ENST00000526016.1	-	0	410					NR_038174.2																						CACAAGCTTTTTCCCACAAAG	0.398000													23	71					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920141	30920141	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30920141C>T	ENST00000462446.1	+	2	3928	c.3900C>T	c.(3898-3900)ctC>ctT	p.L1300L	DPCR1_ENST00000304311.2_Silent_p.L142L|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	424						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ATCCATACCTCAATAAAGATG	0.483000													44	131					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120796713	120796713	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:120796713G>A	ENST00000369144.3	-	21	3964	c.3837C>T	c.(3835-3837)gaC>gaT	p.D1279D	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.D1245D	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1279	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GATCACGCCGGTCATCCCTCT	0.532000													64	129					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271917	50271917	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50271917A>T	ENST00000284509.6	-	12	1072	c.931T>A	c.(931-933)Ttt>Att	p.F311I	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.F311I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCATTCCAAAAGAGGAAAGTT	0.363000													9	164					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6682824	6682824	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6682824G>A	ENST00000518724.1	-	0	440							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCTCGGTGGGGAGCCTCCAG	0.637000													13	9					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38149919	38149919	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38149919C>T	ENST00000308059.6	+	21	3063	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	DLEC1_ENST00000452631.2_Silent_p.F1014F|DLEC1_ENST00000346219.3_Silent_p.F1014F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1014					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGCAGAATTCTGCATGGTGA	0.552000													28	30					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545002	196545002	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196545002T>C	ENST00000409086.3	+	2	511	c.236T>C	c.(235-237)tTt>tCt	p.F79S	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.F79S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	79					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGATTATCCTTTTTTGGTTTG	0.338000													7	123					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324085	61324085	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61324085C>T	ENST00000283752.5	-	7	891	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	250					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						CCATCGATTTCATTTGGCAGC	0.413000													66	124					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154002409	154002409	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154002409C>T	ENST00000368559.3	-	28	3889	c.3818G>A	c.(3817-3819)gGg>gAg	p.G1273E	NUP210L_ENST00000368553.1_Missense_Mutation_p.G206E|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1273E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1273						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAACAAATTCCCCTCAAACTG	0.403000													32	107					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010572	70010572	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70010572C>T	ENST00000532298.1	-	7	705	c.706G>A	c.(706-708)Gct>Act	p.A236T	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						AAAGTTTCAGCTGTGAGGTAG	0.502000													23	69					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227088	25227088	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25227088G>A	ENST00000551631.2	+	0	391					NR_001293.1																						AAACTGCTCAGGTAAAATAAC	0.368000													89	145					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509788	63509788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:63509788C>T	ENST00000389100.4	+	4	707	c.635C>T	c.(634-636)cCc>cTc	p.P212L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.P212L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	212						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTTTTTGTTCCCCAGCTTGTG	0.418000													35	57					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:131261456C>T	ENST00000512055.1	-	19	3610	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517000													41	76					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18435991	18435991	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:18435991C>T	ENST00000357236.4	-	0	486				DZANK1_ENST00000262547.5_Missense_Mutation_p.S93N|DZANK1_ENST00000329494.5_Missense_Mutation_p.S93N|DZANK1_ENST00000377630.5_De_novo_Start_InFrame			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1							intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CACAATGCCACTCTGTCTGCA	0.338000													5	16					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73485248	73485248	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73485248G>A	ENST00000224721.6	+	29	3570	c.3565G>A	c.(3565-3567)Gac>Aac	p.D1189N	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1184	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACAACCACGACCTGGGCCC	0.672000													14	20					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214452	67214452	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67214452G>A	ENST00000290881.7	-	3	988	c.62C>T	c.(61-63)cCc>cTc	p.P21L	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P21L|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P21L|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	21	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CAGGGATGGGGGACTGGTAGG	0.657000													4	42					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101347471	101347471	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101347471A>G	ENST00000534062.1	-	1	3713	c.3655T>C	c.(3655-3657)Tac>Cac	p.Y1219H		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1219										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGCTCCAGGTAGCGGTTCTGA	0.617000													6	14					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172965462	172965462	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:172965462C>T	ENST00000234198.4	-	3	1157	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGGCTGGAGCCCGAGCTGCCG	0.741000													8	6					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729874	88729874	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88729874G>A	ENST00000340700.5	-	2	510	c.59C>T	c.(58-60)cCg>cTg	p.P20L	KCNK10_ENST00000319231.5_Missense_Mutation_p.P25L|KCNK10_ENST00000312350.5_Missense_Mutation_p.P25L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	20					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CTGGCACACCGGTGCTGCTGC	0.572000													43	83					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795800	100795800	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:100795800G>A	ENST00000361529.3	+	6	823	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	SLC25A47_ENST00000557052.1_Missense_Mutation_p.G103R	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	249					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCAGGCAGACGGGCAGGGCCA	0.657000													46	108					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80762046	80762046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80762046C>T	ENST00000458043.2	+	54	6551	c.6545C>T	c.(6544-6546)tCc>tTc	p.S2182F	OTOGL_ENST00000546620.1_Missense_Mutation_p.S201F|OTOGL_ENST00000547103.1_Missense_Mutation_p.S2170F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAAATGTATCCTGCAAATTT	0.388000													10	13					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657345	143657345	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143657345C>T	ENST00000392899.1	+	1	319	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCATCCCATTCCAGAGCTGTG	0.517000													17	392					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69385819	69385819	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69385819G>C	ENST00000342206.6	+	6	1507	c.1008G>C	c.(1006-1008)caG>caC	p.Q336H	IGBP1_ENST00000356413.4_Missense_Mutation_p.Q336H			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	336					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GGAACCGACAGAACATGGGCT	0.557000													3	28					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70486792	70486792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:70486792G>A	ENST00000310961.5	+	17	1844	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	LRRC7_ENST00000035383.5_Missense_Mutation_p.E471K|LRRC7_ENST00000415775.2_Silent_p.T2T|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	471						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAAGATGACGAAAATGCTGG	0.388000													27	56					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36214077	36214077	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36214077G>A	ENST00000251195.5	-	13	2497	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	CLSPN_ENST00000318121.3_Missense_Mutation_p.P801S|CLSPN_ENST00000520551.1_Missense_Mutation_p.P748S|CLSPN_ENST00000373220.3_Missense_Mutation_p.P737S			Q9HAW4	CLSPN_HUMAN	claspin	801					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTGCTGTAGGGAAAAAACTG	0.488000													57	112					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25264729	25264729	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25264729G>A	ENST00000400358.4	+	12	1255	c.1198G>A	c.(1198-1200)Ggt>Agt	p.G400S	SGSM1_ENST00000400359.4_Missense_Mutation_p.G400S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	400						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						AAGCCCTCAGGGTTCTGCCGA	0.502000													83	119					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3178808	3178808	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3178808C>T	ENST00000246115.3	+	1	73	c.18C>T	c.(16-18)acC>acT	p.T6T	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	6					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCACGGGGACCCCGGTGGCCC	0.692000													3	5					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976533	4976533	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4976533G>A	ENST00000380371.1	-	1	410	c.411C>T	c.(409-411)atC>atT	p.I137I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTTGTCAGGATTGAGGTGT	0.428000													36	140					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599676	196599676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196599676C>T	ENST00000409086.3	+	10	2682	c.2407C>T	c.(2407-2409)Ctt>Ttt	p.L803F	SLC39A10_ENST00000541054.1_Missense_Mutation_p.L353F|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L803F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	803					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCAATTCATCCTTCAGAATTT	0.383000													66	107					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817922	38817922	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38817922C>T	ENST00000263372.3	+	3	928	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	274						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGCCCCCTCCGTGCCCTGCC	0.662000													42	85					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32722081	32722081	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32722081C>T	ENST00000380250.3	+	13	1885	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTCATTGCCCAGGTAATGG	0.448000													29	65					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051703	17051703	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:17051703C>T	ENST00000418129.2	+	2	952	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L163L|PLCL2_ENST00000396755.2_Silent_p.L163L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	289	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACATATAACTCTGTGTAATGC	0.343000													9	181					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31318006	31318006	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31318006C>T	ENST00000265071.2	+	11	2122	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	CDH6_ENST00000514738.1_Silent_p.I564I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTTGCCATCCTTCTGTGCA	0.567000													51	77					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011065	40011065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:40011065G>A	ENST00000315792.3	+	1	77	c.14G>A	c.(13-15)cGa>cAa	p.R5Q		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	5					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGCAAAGCGAAGCCACCAA	0.517000													21	61					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	853729	853729	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:853729G>A	ENST00000381922.3	-	9	1488	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	462	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGACGCCGTTGAGGTTTGACA	0.622000													33	61					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683288	6683288	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6683288G>A	ENST00000321535.4	+	2	231	c.101G>A	c.(100-102)aGg>aAg	p.R34K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	34	F-box.									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						CTAGGAGACAGGGACAGGTCC	0.547000													23	58					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144641627	144641627	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144641627T>A	ENST00000526406.1	+	5	1005	c.122T>A	c.(121-123)gTt>gAt	p.V41D	GSDMD_ENST00000533063.1_Missense_Mutation_p.V89D|GSDMD_ENST00000262580.4_Missense_Mutation_p.V41D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	41										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGCCTGGTGGTTAGGAAGCCC	0.587000													59	91					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179871	87179871	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87179871C>T	ENST00000265724.3	-	12	1554	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	ABCB1_ENST00000543898.1_Silent_p.S315S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	379					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCCCACTCTTCGAATAGCTGT	0.333000													47	160					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131804779	131804779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131804779C>T	ENST00000277475.5	+	3	479	c.293C>T	c.(292-294)cCt>cTt	p.P98L	FAM73B_ENST00000358369.4_Missense_Mutation_p.P98L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Missense_Mutation_p.P98L			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	98						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGGAAGGTCCCTTCAGTGAAG	0.597000													5	14					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213519	50213519	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:50213519G>A	ENST00000376025.2	-	0	218							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTCTGGTATGGGTTCTGGCG	0.677000													37	20					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511503	75511503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:75511503C>T	ENST00000318622.4	+	3	741	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	RHBDD2_ENST00000006777.6_Missense_Mutation_p.P179S|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P38S	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	179						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GTGGCTCATTCCCCAGACCTC	0.587000													19	85					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984801	103984801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:103984801G>A	ENST00000388887.2	+	2	412	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	70					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGGTTCGAGATTGCAGGTA	0.458000													51	94					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405065	61405065	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61405065C>T	ENST00000496593.1	+	0	1669					NR_002775.2																						AAGGAAGAGTCGGAGGGAGGA	0.522000													4	67					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61297561	61297561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:61297561C>T	ENST00000402291.1	+	3	317	c.76C>T	c.(76-78)Cca>Tca	p.P26S	KIAA1841_ENST00000453873.1_Missense_Mutation_p.P26S|KIAA1841_ENST00000356719.2_Missense_Mutation_p.P26S|KIAA1841_ENST00000295031.5_Missense_Mutation_p.P26S|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	26										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATCCTTTATCCATTAATTGG	0.393000													53	93					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43102995	43102995	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43102995G>A	ENST00000428554.2	+	18	2727	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	CCDC30_ENST00000390640.4_Silent_p.K317K|CCDC30_ENST00000507855.1_Silent_p.K317K|CCDC30_ENST00000340612.4_Silent_p.K528K|CCDC30_ENST00000342022.4_Silent_p.K528K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	528										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TACGAGATAAGAGAATTAACC	0.318000													32	43					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996108	19996108	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:19996108C>T	ENST00000391403.2	-	1	1770	c.1667G>A	c.(1666-1668)aGg>aAg	p.R556K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	556						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGAAGGAGCCCTGTGAGGATC	0.537000													51	94					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807037	146807037	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:146807037C>T	ENST00000508784.1	-	4	1767	c.1540G>A	c.(1540-1542)Ggg>Agg	p.G514R	ZNF827_ENST00000379448.4_Missense_Mutation_p.G514R|ZNF827_ENST00000513320.1_Missense_Mutation_p.G164R			Q17R98	ZN827_HUMAN	zinc finger protein 827	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACGCCAGCCCCTCCCTGGCTA	0.597000													46	79					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86544109	86544109	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86544109G>A	ENST00000450689.2	-	13	1846	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T314I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T554I|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T387I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	554						integral to membrane		p.T314N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATGATATGGGTGTAAGCTTG	0.318000													12	104					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45317898	45317898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45317898G>A	ENST00000391955.1	+	8	1003	c.959G>A	c.(958-960)gGg>gAg	p.G320E	BCAM_ENST00000270233.6_Missense_Mutation_p.G320E			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	320	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AATCTCGAGGGGAACTTGACC	0.622000													29	72					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32267306	32267306	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32267306C>T	ENST00000360482.2	-	3	1513	c.1383_splice	c.e3-1	p.E462_splice	SPOCD1_ENST00000533231.1_Splice_Site_p.E462_splice|SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000373648.2_Splice_Site_p.E462_splice	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	462					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCACTTCCTCCTTGGAGAGA	0.453000													32	121					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8156470	8156470	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8156470G>A	ENST00000600128.1	-	48	6324	c.5910C>T	c.(5908-5910)atC>atT	p.I1970I	FBN3_ENST00000601739.1_Silent_p.I1970I|FBN3_ENST00000270509.2_Silent_p.I1970I			Q75N90	FBN3_HUMAN	fibrillin 3	1970	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.I1970I(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCACTCGTCGATATCTGGAA	0.602000													25	78					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817832	131817832	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131817832G>A	ENST00000359827.3	-	31	6527	c.5565C>T	c.(5563-5565)tcC>tcT	p.S1855S	PLXNA4_ENST00000321063.4_Silent_p.S1855S			Q9HCM2	PLXA4_HUMAN	plexin A4	1855						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCCACATAGGAGAAGATCT	0.532000													35	171					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99161130	99161130	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:99161130C>T	ENST00000370189.5	+	6	868	c.504C>T	c.(502-504)acC>acT	p.T168T	SNX7_ENST00000306121.3_Silent_p.T232T|SNX7_ENST00000529992.1_Silent_p.T177T			Q9UNH6	SNX7_HUMAN	sorting nexin 7	168					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGGGGCAAACCGTCAGAGCTG	0.403000													49	68					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125379111	125379111	+	Silent	SNP	C	C	T	rs140177984		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125379111C>T	ENST00000521654.2	+	3	1140	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.F145F|RNF217_ENST00000359704.2_Silent_p.F88F|RNF217_ENST00000275184.6_Silent_p.F24F			Q8TC41	RN217_HUMAN	ring finger protein 217	88					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCTGCCAATTCGTCTGGTGTT	0.413000													84	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597446	179597446	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179597446C>T	ENST00000589042.1	-	56	16567		c.e56-1		TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			CTGGGTGGTTCTGAAGAAGGG	0.398000													10	26					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909592	123909592	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123909592C>T	ENST00000330487.5	-	1	125	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAGGAGGTTCCCCAGCACAG	0.567000													51	81					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568278	159568278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:159568278G>A	ENST00000307765.5	+	16	1932	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	RXFP1_ENST00000343542.5_Missense_Mutation_p.G513R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G456R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G528R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G480R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	561						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGGCACCAATGGAGTATGCTT	0.343000													34	68					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686763	6686763	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6686763C>T	ENST00000245907.6	-	28	3732	c.3640G>A	c.(3640-3642)Gcc>Acc	p.A1214T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1214					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		TCACCTTTGGCTGTGGTCAGA	0.552000													98	249					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933485	70933485	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70933485G>A	ENST00000264436.3	-	3	500	c.56C>T	c.(55-57)cCt>cTt	p.P19L	ADD2_ENST00000430656.1_Missense_Mutation_p.P35L|ADD2_ENST00000355733.3_Missense_Mutation_p.P19L|ADD2_ENST00000413157.2_Missense_Mutation_p.P19L|ADD2_ENST00000407644.2_Missense_Mutation_p.P19L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	19					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTCAAAGTAAGGCTGCCCCTG	0.627000													54	102					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882738	152882738	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152882738C>T	ENST00000368764.3	+	2	529	c.465C>T	c.(463-465)ctC>ctT	p.L155L	IVL_ENST00000392667.2_Silent_p.L9L			P07476	INVO_HUMAN	involucrin	155	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTGGAGCTCCCAGagcagc	0.567000													6	78					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505316	32505316	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32505316C>T	ENST00000520502.2	+	1	80	c.80C>T	c.(79-81)cCa>cTa	p.P27L	NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTGCAGACCCATCTCTTGAT	0.617000													26	59					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75153601	75153601	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:75153601G>A	ENST00000526177.1	-	8	2438	c.560C>T	c.(559-561)tCc>tTc	p.S187F	GDPD5_ENST00000376282.3_Missense_Mutation_p.S206F|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.S325F|GDPD5_ENST00000533784.1_Missense_Mutation_p.S206F|GDPD5_ENST00000336898.3_Missense_Mutation_p.S325F|GDPD5_ENST00000533805.1_Missense_Mutation_p.S80F			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	325					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGTGACAGGGAGCTGGCTGT	0.622000													24	40					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239323	100239323	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100239323A>C	ENST00000305046.8	-	3	206	c.139T>G	c.(139-141)Tgt>Ggt	p.C47G	ADH1B_ENST00000394887.3_Missense_Mutation_p.C7G|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	47					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTGTGTGACAGATTCCTACA	0.458000													29	157					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914272	31914272	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31914272C>T	ENST00000456570.1	+	14	1748	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	CFB_ENST00000425368.2_Missense_Mutation_p.P63S|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P565S			P00751	CFAB_HUMAN	complement factor B	63	Peptidase S1.		K -> E (in dbSNP:rs4151659).		complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTACGTGTGTCCTTCTGGCTT	0.592000													45	97					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781602	52781602	+	Silent	SNP	C	C	T	rs151002714		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:52781602C>T	ENST00000245457.5	+	1	490	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	112						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GCACCTACTTCGCTTTCGCCA	0.642000													5	114					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416119	86416119	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86416119C>T	ENST00000361669.2	+	3	2110	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.F209F|GRM3_ENST00000394720.2_Silent_p.F335F|GRM3_ENST00000439827.1_Silent_p.F337F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	337					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCGCTACTTCCAGAGCCTCA	0.617000													24	69					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64338471	64338471	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64338471G>A	ENST00000301891.4	+	10	1984	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D	SLC22A11_ENST00000377585.3_Missense_Mutation_p.G429D|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G468D	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	537					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCAGCCCAGGGCAACCGGCAA	0.512000													43	102					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32940702	32940702	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32940702T>C	ENST00000395289.2	+	2	1628	c.27T>C	c.(25-27)aaT>aaC	p.N9N	BRD2_ENST00000374825.4_Silent_p.N9N|BRD2_ENST00000374831.4_Silent_p.N9N|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395287.1_Silent_p.N9N			P25440	BRD2_HUMAN	bromodomain containing 2	9					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCCCCACAATAAGTACGTTT	0.682000													8	221					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764854	156764854	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:156764854C>T	ENST00000537611.2	-	5	886	c.840G>A	c.(838-840)agG>agA	p.R280R		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	280						integral to membrane|plasma membrane											GGATGGTTACCCTTGCGTGCA	0.438000													4	71					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44096032	44096032	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:44096032G>A	ENST00000344290.5	+	14	2373	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	MAPT_ENST00000340799.5_Missense_Mutation_p.R320K|MAPT_ENST00000446361.3_Missense_Mutation_p.R291K|MAPT_ENST00000571987.1_Missense_Mutation_p.R666K|MAPT_ENST00000262410.5_Missense_Mutation_p.R666K|MAPT_ENST00000535772.1_Missense_Mutation_p.R318K|MAPT_ENST00000574436.1_Missense_Mutation_p.R349K|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000334239.8_Missense_Mutation_p.R260K|MAPT_ENST00000415613.2_Missense_Mutation_p.R684K|MAPT_ENST00000431008.3_Missense_Mutation_p.R318K|MAPT_ENST00000576518.1_Missense_Mutation_p.R249K|MAPT_ENST00000420682.2_Missense_Mutation_p.R320K|MAPT_ENST00000347967.5_Missense_Mutation_p.R224K|MAPT_ENST00000351559.5_Missense_Mutation_p.R349K	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	666					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TTCAAGGACAGAGTCCAGTCG	0.507000													77	168					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489561	133489561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133489561C>T	ENST00000409261.1	-	17	5565	c.5192G>A	c.(5191-5193)gGa>gAa	p.G1731E	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G412E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G412E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1731E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1731							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CGAGCGATTTCCCGAGTCTGG	0.537000													15	18					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40584645	40584645	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40584645C>T	ENST00000260402.3	-	22	2576		c.e22-1		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGTGGTACCCTGTGAGACAG	0.587000													27	34					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180089	132180089	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:132180089C>T	ENST00000374786.1	+	5	1224	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	NTM_ENST00000427481.2_Missense_Mutation_p.P240S|NTM_ENST00000539799.1_Missense_Mutation_p.P249S|NTM_ENST00000374784.1_Missense_Mutation_p.P249S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.P249S|NTM_ENST00000425719.2_Missense_Mutation_p.P249S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	249	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTCAGCAGTCCCCTCAGCAGA	0.502000													58	77					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25009347	25009347	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25009347G>A	ENST00000381989.3	-	31	4037	c.3932C>T	c.(3931-3933)tCt>tTt	p.S1311F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1311					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTAGAAGTAGATGTTTCCCA	0.463000													47	74					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542352	55542352	+	Silent	SNP	G	G	A	rs67738115		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55542352G>A	ENST00000220676.1	+	4	6058	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1970					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)			TCAGGGAAGAGAACAATAAAG	0.299000													33	64					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038521	131038521	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131038521T>C	ENST00000320188.4	+	1	97	c.97T>C	c.(97-99)Ttt>Ctt	p.F33L		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	33					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CGGGGCCGGCTTTCCTTGGGT	0.687000													27	42					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071405	10071405	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10071405G>A	ENST00000264828.3	-	66	5098	c.5013C>T	c.(5011-5013)ttC>ttT	p.F1671F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1671	Fibrillar collagen NC1.				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)			TGGTGCCAAGGAAGCGGGCGG	0.627000													5	112					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2656677	2656677	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:2656677C>T	ENST00000335762.5	+	10	1717	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399606.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	463					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTAGTCACTCCACAGAAACCC	0.502000													17	36					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683114	50683114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:50683114G>A	ENST00000008391.3	+	2	553	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	109							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCACGGGGAGCCCACCGA	0.627000													43	145					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275022	153275022	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153275022C>T	ENST00000290722.1	-	5	643	c.591G>A	c.(589-591)atG>atA	p.M197I		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	197					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGGAGGTTCATTTTAGGGC	0.468000													69	95					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36168466	36168466	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36168466C>T	ENST00000274255.6	+	5	784	c.588C>T	c.(586-588)tcC>tcT	p.S196S	SKP2_ENST00000274254.5_Silent_p.S196S|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGAAGTGTCCACCCTCCACG	0.517000													124	365					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7232003	7232003	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:7232003G>A	ENST00000383467.2	+	1	881	c.867G>A	c.(865-867)gaG>gaA	p.E289E		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	289										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGGGCCTGGAGATGCTCTTCG	0.587000													203	213					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870784	50870784	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50870784G>A	ENST00000395562.2	+	15	2156	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	CHAT_ENST00000395559.2_Missense_Mutation_p.E527K|CHAT_ENST00000455728.2_Missense_Mutation_p.E527K|CHAT_ENST00000351556.3_Missense_Mutation_p.E527K|CHAT_ENST00000339797.1_Missense_Mutation_p.E527K|CHAT_ENST00000337653.2_Missense_Mutation_p.E645K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	645					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTTCATGGATGAAACCTACCT	0.562000													53	154					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349291	101349291	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101349291G>A	ENST00000534062.1	-	1	1893	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	612										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGCGCGGTGGAGGGACACTC	0.562000													17	51					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21161738	21161738	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21161738G>A	ENST00000255882.6	-	10	1166	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	PI4KA_ENST00000572273.1_Silent_p.P302P	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	302					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)			GATCAGCACTGGGGTTGGCCT	0.517000													21	33					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39021127	39021127	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39021127C>T	ENST00000251643.4	-	3	761	c.738G>A	c.(736-738)agG>agA	p.R246R		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	246	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CCAGGTCGGTCCTGGTCAGGG	0.587000													52	120					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103256	57103256	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:57103256G>A	ENST00000439986.4	-	11	1142	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	CCBE1_ENST00000398179.2_Missense_Mutation_p.P98S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	369					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.P369A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGAGGTAAAGGGAACTCCTCT	0.537000													8	228					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47797136	47797136	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47797136C>T	ENST00000240364.2	-	5	773	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	232										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						AGCAGCTCCTCTTCTCCCTGC	0.637000													92	170					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54385328	54385328	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:54385328C>T	ENST00000254442.3	+	13	1923	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	WDR7_ENST00000357574.3_Missense_Mutation_p.S571F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	571								p.S571Y(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGAGGCCTTCTGATGATTAC	0.398000													35	125					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163225	151163225	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151163225G>A	ENST00000282466.3	-	4	4543	c.4544C>T	c.(4543-4545)cCa>cTa	p.P1515L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1515					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATTGCTGTGGTTTAGCATT	0.463000													61	107					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735578	76735578	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:76735578C>T	ENST00000287239.4	+	8	1972	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	495	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|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 factor binding|zinc ion binding										TTCTTCACTTCCACCCCCAAC	0.522000													49	85					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103468000	103468000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103468000C>T	ENST00000358392.2	-	23	2434	c.2117G>A	c.(2116-2118)gGg>gAg	p.G706E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G655E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G578E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G694E|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	694	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGATTCCCTTGTTGACC	0.428000													4	14					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082686	97082686	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:97082686G>A	ENST00000335456.7	-	6	1147	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L	NUTM2F_ENST00000341207.4_Missense_Mutation_p.P376L|NUTM2F_ENST00000253262.4_Missense_Mutation_p.P391L					NUT family member 2F																		CACTTCAGGGGGGATCTCCTC	0.657000													45	98					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399065	57399065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57399065C>T	ENST00000543257.1	-	11	1905	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	C8B_ENST00000535057.1_Missense_Mutation_p.E437K|C8B_ENST00000371237.4_Missense_Mutation_p.E499K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	499	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.E499K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAACTAACTTCCTTCTGGAAC	0.527000													54	35					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113574	59113574	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:59113574G>A	ENST00000395153.3	+	4	2269	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	DACT1_ENST00000556859.1_Missense_Mutation_p.E464K|DACT1_ENST00000335867.4_Missense_Mutation_p.E745K|DACT1_ENST00000541264.2_Missense_Mutation_p.E464K|DACT1_ENST00000395151.3_Missense_Mutation_p.E464K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	745					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGTGAGGACGAGCAGAGCAA	0.627000													48	107					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3728607	3728607	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3728607C>T	ENST00000541714.2	+	3	516	c.54C>T	c.(52-54)ccC>ccT	p.P18P	TJP3_ENST00000589378.1_Silent_p.P27P|TJP3_ENST00000587686.1_Silent_p.P37P|TJP3_ENST00000539908.2_5'UTR|TJP3_ENST00000262968.9_Silent_p.P37P|TJP3_ENST00000382008.3_Silent_p.P18P	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	18	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGGACCCCCGCCGGGGCT	0.637000													8	19					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22653900	22653900	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:22653900G>A	ENST00000376603.2	+	3	610	c.468G>A	c.(466-468)gtG>gtA	p.V156V	SPAG6_ENST00000313311.6_Silent_p.V80V|SPAG6_ENST00000538630.1_Silent_p.V55V|SPAG6_ENST00000376624.3_Silent_p.V80V|SPAG6_ENST00000376601.1_Silent_p.V80V|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	80					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAGCTGTTGTGAAGTGCGACA	0.368000													33	45					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858322	65858322	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65858322G>A	ENST00000395325.3	+	12	1663	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	DNAJC6_ENST00000371069.4_Silent_p.L559L|DNAJC6_ENST00000263441.7_Silent_p.L489L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	502	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTTTGGGCCTGGAAGGGTCTG	0.577000													21	32					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13049513	13049513	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:13049513C>T	ENST00000506447.1	+	16	2803	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	CEP192_ENST00000430049.2_Missense_Mutation_p.S433L|CEP192_ENST00000325971.8_Missense_Mutation_p.S312L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	503										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATAGTTATTCATCAGTGAGG	0.378000													36	97					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191104	72191104	+	Missense_Mutation	SNP	T	T	A	rs143652126	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:72191104T>A	ENST00000356056.5	-	25	4212	c.3740A>T	c.(3739-3741)cAg>cTg	p.Q1247L	MYO9A_ENST00000566885.1_Missense_Mutation_p.Q867L|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1247L|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1228L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1247L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1247	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACATCTTCCTGCAAGTCCAC	0.483000													16	189					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71553193	71553193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:71553193G>A	ENST00000276590.4	-	5	721	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	RP11-382J12.1_ENST00000499227.2_Intron|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.R229C	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	229							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAGTTCTCACGAAATAATGTA	0.294000													21	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179464000	179464000	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179464000C>T	ENST00000589042.1	-	290	56744	c.56520G>A	c.(56518-56520)aaG>aaA	p.K18840K	TTN_ENST00000359218.5_Silent_p.K9900K|TTN_ENST00000591111.1_Silent_p.K17199K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K16272K|TTN_ENST00000460472.2_Silent_p.K9775K|TTN_ENST00000342175.6_Silent_p.K9967K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17199	Ig-like 107.						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)			ACGTGCACTCCTTAGGTTCAC	0.423000													19	161					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758214	40758214	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40758214C>T	ENST00000372759.3	+	10	1466	c.1301C>T	c.(1300-1302)gCt>gTt	p.A434V		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	434						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTATATTCTGCTTTAATCAAA	0.398000													66	95					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57810591	57810591	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:57810591G>A	ENST00000281282.5	+	10	2689	c.2610_splice	c.e10-1	p.G871_splice		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	871						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCATTGTAGGGAGAAATACG	0.473000													8	19					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801125	154801125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:154801125G>A	ENST00000392825.3	+	3	682	c.115G>A	c.(115-117)Gag>Aag	p.E39K	GALNT13_ENST00000409237.1_Missense_Mutation_p.E39K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	39						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E39K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGACAAGAAGGAGAGATCTCT	0.423000													46	116					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195798909	195798909	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195798909A>T	ENST00000360110.4	-	5	718	c.549T>A	c.(547-549)cgT>cgA	p.R183R	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Silent_p.R102R|TFRC_ENST00000392396.3_Silent_p.R183R	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	183					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AATGTTGATCACGCCAGACTT	0.343000			T	BCL6	NHL								20	68					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066166	87066166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:87066166C>T	ENST00000441037.2	+	18	2638	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	AGBL1_ENST00000421325.2_Missense_Mutation_p.P848L|AGBL1_ENST00000389298.3_Missense_Mutation_p.P579L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	848					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGCCGAAGTCCCGTGGTGAGT	0.517000													6	199					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513718	99513718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:99513718G>A	ENST00000261037.3	+	5	1353	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	COL8A1_ENST00000273342.4_Missense_Mutation_p.G325S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	325	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGGATCCCAGGCCAGCCAGG	0.627000													27	50					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639387	97639387	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:97639387G>A	ENST00000298440.1	-	4	870	c.627C>T	c.(625-627)ctC>ctT	p.L209L	OXGR1_ENST00000543457.1_Silent_p.L209L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	209						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCACCAAGGGGAGGCAGAAAG	0.468000													42	71					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616073	92616073	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92616073G>A	ENST00000298047.6	+	23	12468	c.12451G>A	c.(12451-12453)Ggg>Agg	p.G4151R	FAT3_ENST00000409404.2_Missense_Mutation_p.G4151R|FAT3_ENST00000533797.1_Missense_Mutation_p.G486R|FAT3_ENST00000525166.1_Missense_Mutation_p.G4001R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4151					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)				CTCCTACGTGGGGAAGGAGGA	0.602000										TCGA Ovarian(4;0.039)			9	14					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115589330	115589330	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:115589330C>T	ENST00000310836.6	+	5	1654	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	UGT8_ENST00000394511.3_Missense_Mutation_p.P378S	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	378					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTGGGAATTCCACTCTTTGG	0.403000													45	91					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154932032	154932032	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154932032G>A	ENST00000368457.2	-	3	615	c.444C>T	c.(442-444)ccC>ccT	p.P148P	PYGO2_ENST00000368456.1_Silent_p.P111P	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	148	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACCCTGGGGGGGCATGTTGA	0.632000													10	119					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829043	61829043	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61829043G>A	ENST00000280772.1	-	37	11787	c.11596C>T	c.(11596-11598)Ccc>Tcc	p.P3866S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3866					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						GCCTTTATGGGAAGTTTGGAT	0.398000													118	251					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237276915	237276915	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:237276915G>A	ENST00000409907.3	-	14	1865	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	RP11-785G17.1_ENST00000605740.1_RNA|IQCA1_ENST00000309507.5_Missense_Mutation_p.R528C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R490C			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	531							ATP binding	p.R539C(1)|p.R531C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GACACCTGGCGAAGAGTAGTC	0.507000													11	23					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716888	13716888	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13716888G>A	ENST00000279593.3	-	13	3493	c.3284C>T	c.(3283-3285)tCg>tTg	p.S1095L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1095					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	GGACTTGGCCGAGGCAGGCCG	0.612000													45	59					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6804719	6804719	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6804719C>T	ENST00000534837.1	-	5	933	c.704G>A	c.(703-705)gGa>gAa	p.G235E	PIANP_ENST00000540656.1_Missense_Mutation_p.G235E|PIANP_ENST00000320591.5_Missense_Mutation_p.G235E	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CACAGTGACTCCAGCCGGGGA	0.701000													40	90					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046126	201046126	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201046126C>T	ENST00000362061.3	-	12	1975	c.1749G>A	c.(1747-1749)ggG>ggA	p.G583G	CACNA1S_ENST00000367338.3_Silent_p.G583G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	583					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)	AGTCATACCTCCCCCCAAAGA	0.572000													95	132					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58587750	58587750	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:58587750G>A	ENST00000317147.5	-	22	3238	c.2906C>T	c.(2905-2907)cCc>cTc	p.P969L	CNOT1_ENST00000441024.2_Missense_Mutation_p.P969L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P964L|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	969					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACAATACTGGGGATAGTCCTT	0.368000													34	31					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108988	75108988	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75108988C>T	ENST00000309664.5	+	4	593	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R152C	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	152	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCCATCCGTGTGCTGGC	0.672000													30	57					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224609	55224609	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55224609C>T	ENST00000413439.1	+	0	1781																											CTCACACCCCCAGGATTACAC	0.602000													19	50					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221691	161221691	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:161221691C>T	ENST00000327928.4	+	4	1395	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	465	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTACTGGGTTCCTTTTGTACC	0.408000													8	29					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44009426	44009426	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44009426G>A	ENST00000427076.1	-	0	1104					NR_003655.2																						CCTCATCAGGGTCAACCTCCG	0.682000													9	29					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145397	44145397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:44145397C>A	ENST00000260665.7	-	28	3094	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1013					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACAATTACCTCAGGTACGTCA	0.313000													23	85					2.70662e-09	2.72141e-09	1	1	0
RUSC2	9853	broad.mit.edu	37	9	35561370	35561370	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35561370C>T	ENST00000455600.1	+	12	5111	c.4542C>T	c.(4540-4542)agC>agT	p.S1514S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1514						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAAGCAGCCAAAACTGAG	0.637000													38	97					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105303500	105303500	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:105303500A>C	ENST00000258538.3	-	2	723	c.596T>G	c.(595-597)tTa>tGa	p.L199*		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	199						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGCAGGGACTAAAATGAAAAC	0.333000													46	58					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225580	9225580	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9225580G>A	ENST00000293614.1	-	1	859	c.860C>T	c.(859-861)cCc>cTc	p.P287L	OR7G1_ENST00000541538.1_Missense_Mutation_p.P287L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTAGATGAAGGGGTTCATCAT	0.433000													45	130					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69652438	69652438	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:69652438C>T	ENST00000340965.3	+	3	687	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	PAQR5_ENST00000561153.1_Missense_Mutation_p.P7S|PAQR5_ENST00000395407.2_Missense_Mutation_p.P7S|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	7					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCTGAAGCTCCCCAGGCTGTT	0.547000													46	108					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432179	4432179	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4432179C>T	ENST00000301280.5	+	12	2279	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	726	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGGCCTCCAAGCGGGAGA	0.647000								Chromatin Structure					25	41					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54910690	54910690	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54910690C>T	ENST00000293373.6	+	11	1088	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H287Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	337					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGCCAGTTTCATTGTCAACG	0.498000													26	59					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65367638	65367638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:65367638G>A	ENST00000330909.8	-	17	2698	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MAGI1_ENST00000483466.1_Missense_Mutation_p.S900L|MAGI1_ENST00000497477.2_Missense_Mutation_p.S872L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S872L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	900					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAGCTGGTGTGATTTTCCAAT	0.502000													7	99					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978257	247978257	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247978257G>A	ENST00000357627.1	-	1	774	c.775C>T	c.(775-777)Cca>Tca	p.P259S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCTGAAGCTGGCTTCAGATAA	0.418000													29	70					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270131	150270131	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150270131C>T	ENST00000255945.2	+	3	1148	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	GIMAP4_ENST00000461940.1_Silent_p.L339L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	325							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGTTACGTCTGTTCGCGGA	0.393000													39	83					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6654846	6654846	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6654846C>T	ENST00000299441.3	-	5	2663	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTGGCCCGTCTGGCCAA	0.547000													5	4					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805458	39805458	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39805458G>A	ENST00000248668.4	-	1	518	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	173						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGCCTCCAGGTTGTTGTAGG	0.627000													11	18					0	0	1	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162007	23162007	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23162007G>A	ENST00000390316.2	+	0	215																											AGTGGCCCTGGGACAGACGGC	0.527000													26	65					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17640960	17640960	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:17640960T>C	ENST00000377813.1	-	3	496	c.193A>G	c.(193-195)Aca>Gca	p.T65A	RRBP1_ENST00000246043.4_Missense_Mutation_p.T65A|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.T65A|RRBP1_ENST00000377807.2_Missense_Mutation_p.T65A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	65					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ttctccactgttttctccttc	0.463000													14	20					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411596	57411596	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57411596C>T	ENST00000543257.1	-	8	1413	c.847G>A	c.(847-849)Gat>Aat	p.D283N	C8B_ENST00000535057.1_Missense_Mutation_p.D273N|C8B_ENST00000371237.4_Missense_Mutation_p.D335N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	335	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CGGAAGAGATCTCTGTATTCC	0.502000													33	67					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374572	163374572	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163374572G>A	ENST00000332142.5	-	4	659	c.560C>T	c.(559-561)tCa>tTa	p.S187L	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S187L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	187					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGTTTAGATGAATCGATGAC	0.423000													56	103					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19349199	19349199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19349199G>A	ENST00000252575.5	+	11	3431	c.3388G>A	c.(3388-3390)Gag>Aag	p.E1130K	NCAN_ENST00000538881.1_Missense_Mutation_p.E581K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1130	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCACTCACCGGAGGAACACAG	0.647000													38	109					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38229380	38229380	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:38229380C>T	ENST00000379705.3	-	7	2586	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	TRPC4_ENST00000379681.3_Missense_Mutation_p.G577R|TRPC4_ENST00000379673.2_Missense_Mutation_p.G577R|TRPC4_ENST00000447043.1_Missense_Mutation_p.G577R|TRPC4_ENST00000355779.2_Missense_Mutation_p.G577R|TRPC4_ENST00000338947.5_Missense_Mutation_p.G404R|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.G577R|TRPC4_ENST00000379679.1_Missense_Mutation_p.G404R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	577					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGATGAGCCCAAATATTGAC	0.353000													14	27					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6556173	6556173	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:6556173C>T	ENST00000321612.6	-	18	2332	c.2182G>A	c.(2182-2184)Ggg>Agg	p.G728R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	728					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.G728R(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATATTTGCCCCGTCTAGGTAG	0.443000													20	29					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991851	144991851	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144991851C>T	ENST00000322810.4	-	32	12718	c.12549G>A	c.(12547-12549)caG>caA	p.Q4183Q	PLEC_ENST00000356346.3_Silent_p.Q4032Q|PLEC_ENST00000354589.3_Silent_p.Q4046Q|PLEC_ENST00000398774.2_Silent_p.Q4014Q|PLEC_ENST00000527096.1_Silent_p.Q4069Q|PLEC_ENST00000436759.2_Silent_p.Q4073Q|PLEC_ENST00000354958.2_Silent_p.Q4024Q|PLEC_ENST00000345136.3_Silent_p.Q4046Q|PLEC_ENST00000357649.2_Silent_p.Q4050Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4183	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTGGCGATCTGGGCCTCCA	0.627000													26	87					0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58174353	58174353	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:58174353T>A	ENST00000300209.8	+	3	730	c.605T>A	c.(604-606)cTg>cAg	p.L202Q	METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_Missense_Mutation_p.L21Q|RP11-571M6.15_ENST00000471530.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	202						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CATTTCCAACTGGAGCTGGCT	0.537000													4	64					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98173072	98173072	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98173072C>T	ENST00000357947.3	-	8	1150	c.923_splice	c.e8-1	p.G309_splice	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	309	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGAAAACTCCTCTACAGGAA	0.507000													14	33					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607282	47607282	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47607282G>A	ENST00000371891.3	+	3	408	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R126Q|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R126Q	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	126			R -> W (in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCTCCACGGATTGGTATG	0.448000													52	73					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300381	101300381	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101300381A>T	ENST00000519449.1	-	3	338	c.22T>A	c.(22-24)Ttt>Att	p.F8I	RNF19A_ENST00000341084.2_Missense_Mutation_p.F8I	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	8					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAGATAAAACCTATTTCT	0.353000													4	60					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644200	64644200	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:64644200C>T	ENST00000371079.1	+	9	2851	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S	ROR1_ENST00000545203.1_Missense_Mutation_p.P277S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	826	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCAATACCTCCTGGATATGC	0.557000													27	54					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49072946	49072946	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:49072946G>A	ENST00000376265.2	-	27	3226	c.3165C>T	c.(3163-3165)ccC>ccT	p.P1055P	CACNA1F_ENST00000376251.1_Silent_p.P990P|CACNA1F_ENST00000323022.5_Silent_p.P1044P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1055					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCGGACCAGGGGCCGTGACA	0.562000													12	3					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808821	18808821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:18808821C>T	ENST00000400664.1	+	1	1398	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	449						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCTGGAGGCCCTGAAAGAG	0.622000													56	110					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745934	156745934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:156745934G>A	ENST00000470811.1	+	13	1834	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E471K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTAAGGCAGGAAGTGACCAC	0.338000													27	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580183	82580183	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82580183C>T	ENST00000423517.2	-	6	10058	c.9721G>A	c.(9721-9723)Gaa>Aaa	p.E3241K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3241K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3172	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTGAATTTCCTGACGTTCC	0.448000													49	165					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707276	109707276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109707276G>A	ENST00000369939.3	+	3	613	c.430G>A	c.(430-432)Gat>Aat	p.D144N	KIAA1324_ENST00000529753.1_Missense_Mutation_p.D144N	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	144					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CATGGAGCTGGATGACAGTGC	0.617000													25	50					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242277170	242277170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242277170C>T	ENST00000391973.2	+	7	1087	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	SEPT2_ENST00000360051.3_Missense_Mutation_p.L187F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L187F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L187F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L197F|SEPT2_ENST00000407971.1_Missense_Mutation_p.L147F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	187					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AGCTGACACTCTCACCCTGAA	0.498000													35	75					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561610	11561610	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11561610G>A	ENST00000294484.6	+	2	699	c.561G>A	c.(559-561)cgG>cgA	p.R187R	PTCHD2_ENST00000389575.3_Silent_p.R187R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	187					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCTTACCGGGACACTTCCG	0.692000													10	24					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55652890	55652890	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:55652890C>T	ENST00000310958.6	-	8	1379	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.E361K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E361K|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	361					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGCTTTTCCTCTTCCAAA	0.358000													51	126					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6224953	6224953	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6224953G>A	ENST00000264870.3	-	7	1204	c.939C>T	c.(937-939)ggC>ggT	p.G313G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	313					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGCATTGGCCATACCGGA	0.428000													61	245					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034598	150034598	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150034598G>A	ENST00000359623.4	+	3	1236	c.648G>A	c.(646-648)ctG>ctA	p.L216L	LRRC61_ENST00000493307.1_Silent_p.L216L|LRRC61_ENST00000323078.7_Silent_p.L216L	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	216										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTCCATCCTGGAGGAGGCCT	0.701000													15	63					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782427	6782427	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6782427G>A	ENST00000297436.2	-	2	256	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	72					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTCTGCAATGGCAAGTGAAAG	0.488000													33	47					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111794	140111794	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:140111794A>G	ENST00000275874.5	+	4	661	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	RAB19_ENST00000356407.3_Missense_Mutation_p.I108V|RAB19_ENST00000537763.1_Missense_Mutation_p.I108V			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	108					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GTTCGAGTCCATCCCTCACTG	0.498000													35	269					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70990055	70990055	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70990055G>C	ENST00000334414.6	-	5	1076	c.1032C>G	c.(1030-1032)acC>acG	p.T344T	PTPRB_ENST00000261266.5_Silent_p.T126T|PTPRB_ENST00000551525.1_Silent_p.T343T|PTPRB_ENST00000451516.2_Silent_p.T126T|PTPRB_ENST00000550857.1_Silent_p.T126T|PTPRB_ENST00000538708.1_Silent_p.T126T|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.T344T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	126	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGCAAGCTGGTTGAAGTCG	0.393000													4	32					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97333857	97333857	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:97333857C>T	ENST00000375337.3	-	4	520	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	152					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGCAGGGCATCCTTTTCAGAA	0.552000													26	62					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817500	2817500	+	Missense_Mutation	SNP	C	C	T	rs149143366		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2817500C>T	ENST00000301740.8	+	11	7520	c.6971C>T	c.(6970-6972)cCc>cTc	p.P2324L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2324	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAACTATCCCTCCAGCTCC	0.602000													153	379					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211766	74211766	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:74211766G>A	ENST00000405086.2	-	16	2274	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L	GTF2IRD2_ENST00000451013.2_Silent_p.L242L	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ccagctcatagagcaaggttg	0.512000													53	176					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924882	153924882	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153924882G>A	ENST00000368633.1	-	9	870	c.743C>T	c.(742-744)cCt>cTt	p.P248L	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	248					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTAATTCCAGGGACTTCACA	0.527000													65	58					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100354671	100354671	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100354671G>A	ENST00000273352.3	+	5	865		c.e5+1		GPR128_ENST00000475887.1_Splice_Site	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTCACCTGAGGTAAAACTCAC	0.368000													23	51					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969155	118969155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:118969155G>A	ENST00000334549.1	+	3	500	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	167						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)		AATCGGTTCCGAAAATTCCCT	0.507000													61	132					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566839	136566839	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136566839G>A	ENST00000264162.2	-	8	3088	c.3078C>T	c.(3076-3078)gcC>gcT	p.A1026A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1026	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATCCTGGAGGGCCTGGGGCA	0.483000													25	47					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493985	55493985	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55493985G>A	ENST00000543010.1	+	6	1062	c.919G>A	c.(919-921)Gac>Aac	p.D307N	NLRP2_ENST00000263437.6_Missense_Mutation_p.D304N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D284N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D285N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D285N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D283N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D283N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D307N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	307	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATCTGCGGGGACTGGGAGAA	0.617000													24	66					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718182	46718182	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46718182C>T	ENST00000318962.4	-	18	2061	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E660K|ALS2CL_ENST00000383742.3_Missense_Mutation_p.E7K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	660					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGCAGCTCCTCCAGGATG	0.657000													41	54					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733768	92733768	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92733768G>A	ENST00000379958.2	-	3	1912	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	548						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCATCCACAGAGGACAGTAA	0.408000													13	252					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933367	43933367	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43933367G>A	ENST00000537548.1	-	4	388	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MATN4_ENST00000372756.1_Silent_p.F48F|MATN4_ENST00000353917.5_Silent_p.F48F|MATN4_ENST00000360607.5_Silent_p.F48F|MATN4_ENST00000342716.4_Silent_p.F48F|MATN4_ENST00000372754.1_Silent_p.F48F|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron			O95460	MATN4_HUMAN	matrilin 4	48	VWFA 1.					extracellular region	protein binding	p.F48F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCTCGAACTCGAAAGGGCGCA	0.627000													15	51					0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30035241	30035241	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30035241C>T	ENST00000376772.3	+	1	377	c.54C>T	c.(52-54)acC>acT	p.T18T	PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376769.2_5'UTR	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	18						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						CAACGGTTACCGTGACAACCG	0.622000													41	128					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298006	62298006	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62298006G>A	ENST00000378024.4	-	5	4157	c.3883C>T	c.(3883-3885)Cca>Tca	p.P1295S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1295					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTCACATCTGGGACTTCAACA	0.542000													10	379					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259938	71259938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71259938C>T	ENST00000528743.2	+	1	473	c.235C>T	c.(235-237)Cag>Tag	p.Q79*		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	79	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGGCTGCTCCCAGTGCAGTTG	0.627000													120	221					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146770635	146770635	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:146770635G>A	ENST00000508784.1	-	6	2287	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	ZNF827_ENST00000379448.4_Missense_Mutation_p.S687L|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Missense_Mutation_p.S337L			Q17R98	ZN827_HUMAN	zinc finger protein 827	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGTGATATCGAGACATGGGA	0.502000													55	128					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432796	90432796	+	Missense_Mutation	SNP	G	G	A	rs140483375		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:90432796G>A	ENST00000369393.3	-	40	5960	c.5845C>T	c.(5845-5847)Cgg>Tgg	p.R1949W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1949W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1949					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAAGGTCCCGGAGGTTGAAT	0.473000													97	233					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712996	46712996	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46712996G>A	ENST00000318962.4	-	25	2846	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	ALS2CL_ENST00000415953.1_Silent_p.F921F|ALS2CL_ENST00000383742.3_Silent_p.F268F	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	921	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGAGCAGGAAGTCATACA	0.592000													36	75					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956883	54956883	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:54956883G>A	ENST00000173898.7	+	12	3838	c.3726G>A	c.(3724-3726)ggG>ggA	p.G1242G	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G845G|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G773G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1242	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTGATGGTGGGCTAGGTACCA	0.607000													6	67					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119668	38119668	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38119668C>T	ENST00000406386.3	+	7	1360	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	369					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			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)					AACTTCTTTTCCTACTTGTAC	0.557000													89	192					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570704	20570704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20570704C>T	ENST00000329697.6	-	3	411	c.243G>A	c.(241-243)tgG>tgA	p.W81*	ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W2*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	81					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTCTGAAATTCCACATTAATT	0.572000													13	31					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241380	134241380	+	Silent	SNP	G	G	A	rs147485542		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:134241380G>A	ENST00000535456.2	+	14	1610	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.L474L|GLB1L2_ENST00000389881.3_Silent_p.L474L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	474					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGTCCCCCTGATCCAGGTTC	0.542000													58	77					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582058	55582058	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55582058G>A	ENST00000361849.3	-	34	5828	c.5434C>T	c.(5434-5436)Ctt>Ttt	p.L1812F	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1741F|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1787F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1807F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1770F|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1810F	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1810					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggtagaagaggtggTGTT	0.498000										HNSCC(58;0.16)			8	29					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247440	56247440	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56247440G>A	ENST00000361673.3	-	4	781	c.568C>T	c.(568-570)Cct>Tct	p.P190S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	190							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACACCCAAAGGATTTTCAGAA	0.443000													84	160					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110251135	110251135	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110251135G>A	ENST00000369831.2	+	8	694	c.600G>A	c.(598-600)agG>agA	p.R200R	GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000483399.2_3'UTR					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		gctcgagaaggaatctggatA	0.418000													8	7					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79827939	79827939	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79827939C>T	ENST00000360280.3	+	8	870	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	VPS13A_ENST00000357409.5_Missense_Mutation_p.R204C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R204C|VPS13A_ENST00000376634.4_Missense_Mutation_p.R204C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	204					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R204C(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAACTGGTTCGTAAGGTAAA	0.323000													22	52					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805813	70805813	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:70805813C>T	ENST00000358731.4	+	17	3157	c.2894C>T	c.(2893-2895)tCc>tTc	p.S965F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	965	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGAGAGTTCCCCAAGGGAG	0.448000													46	101					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325023	150325023	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150325023G>A	ENST00000328902.5	-	3	879	c.663C>T	c.(661-663)gcC>gcT	p.A221A	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	221							GTP binding			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)		CCCACATAATGGCTTCAACTT	0.507000													104	369					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216374	19216374	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19216374C>T	ENST00000318596.7	+	5	369	c.218C>T	c.(217-219)gCc>gTc	p.A73V	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	73					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTCCAGGAGGCCTTCCGGGTC	0.652000													15	43					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737461	50737461	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50737461G>A	ENST00000403097.1	-	6	1224	c.444C>T	c.(442-444)ctC>ctT	p.L148L	GRB10_ENST00000335866.3_Silent_p.L96L|GRB10_ENST00000439599.1_Silent_p.L148L|GRB10_ENST00000402578.1_Silent_p.L96L|GRB10_ENST00000401949.1_Silent_p.L154L|GRB10_ENST00000406641.1_Silent_p.L96L|GRB10_ENST00000407526.1_Silent_p.L96L|GRB10_ENST00000398810.2_Silent_p.L96L|GRB10_ENST00000357271.5_Silent_p.L154L|GRB10_ENST00000402497.1_Silent_p.L96L|GRB10_ENST00000398812.2_Silent_p.L154L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	154					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AACCCGGCGTGAGCACAGGGG	0.612000									Russell-Silver syndrome				21	40					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311139	84311139	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:84311139G>A	ENST00000428679.2	-	16	1768	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	SNAP91_ENST00000521743.1_Missense_Mutation_p.S392F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S390F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S392F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S392F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S392F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S392F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	392	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGAACAGAGGAAAGTGCAGC	0.443000													12	37					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160975	233160975	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233160975C>T	ENST00000258229.8	-	26	4756	c.4522G>A	c.(4522-4524)Ggc>Agc	p.G1508S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G160S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1508						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGCTGTAGCCCTCCAGGATG	0.572000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	118					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362925	175362925	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175362925G>A	ENST00000367674.1	-	6	2055	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	TNR_ENST00000263525.2_Silent_p.F449F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	449	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTTTGGAATGAAGCTGATTT	0.478000													160	199					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063139	21063139	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21063139C>T	ENST00000261383.3	-	29	4089	c.4090G>A	c.(4090-4092)Gat>Aat	p.D1364N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1364N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1364	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTGGAAATCATTCAGATCG	0.532000													39	122					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379538	39379538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:39379538C>T	ENST00000518318.2	+	5	851	c.809C>T	c.(808-810)tCc>tTc	p.S270F	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S270F|POU6F2_ENST00000559001.1_Missense_Mutation_p.S262F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	270	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cagcagagctccagccccCCG	0.617000													28	51					0	0	1	0	0
LOC93432	93432	broad.mit.edu	37	7	141896378	141896378	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141896378C>T	ENST00000477922.3	+	39	4548	c.4494C>T	c.(4492-4494)ttC>ttT	p.F1498F																	endometrium(1)|lung(5)	6						TGATGGAGTTCAGTCTCTTTG	0.458000													3	8					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512895	157512895	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157512895G>A	ENST00000361835.3	-	6	1034	c.877C>T	c.(877-879)Cct>Tct	p.P293S	FCRL5_ENST00000368189.3_Missense_Mutation_p.P293S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P293S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P293S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P208S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	293	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCTTTTCAGGGCTGAGAGTG	0.453000													18	70					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44268929	44268929	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44268929G>A	ENST00000244571.4	-	21	2759	c.2757C>T	c.(2755-2757)ccC>ccT	p.P919P	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	919					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCTTCCCCATGGGCTGGGGGC	0.622000													41	122					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796516	29796516	+	Silent	SNP	G	G	A	rs113386443		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29796516G>A	ENST00000428701.1	+	4	718	c.540G>A	c.(538-540)agG>agA	p.R180R	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.R180R|HLA-G_ENST00000376828.2_Silent_p.R185R|HLA-G_ENST00000376818.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	180	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGAACAAAGGAGAGCCTACC	0.652000													52	121					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130432	45130432	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45130432G>A	ENST00000457685.2	-	6	2755	c.1432C>T	c.(1432-1434)Ctt>Ttt	p.L478F	ZNF334_ENST00000593880.1_Missense_Mutation_p.L539F|ZNF334_ENST00000347606.4_Missense_Mutation_p.L516F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACTCATAAAGATTCTCCTTT	0.398000													8	305					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579245	1579245	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1579245G>A	ENST00000572621.1	-	17	2921	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L886F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	886						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTCTGTGTGAGGAGGTGACGC	0.537000													18	57					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160431	51160431	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:51160431G>A	ENST00000414786.2	+	21	4355	c.4128G>A	c.(4126-4128)ggG>ggA	p.G1376G	SHANK3_ENST00000262795.3_Silent_p.G1406G|SHANK3_ENST00000445220.2_Silent_p.G1392G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1406										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGAGAGCGGGGAACTCACTG	0.617000													13	13					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459957	107459957	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107459957C>T	ENST00000409382.3	-	2	1087	c.477G>A	c.(475-477)cgG>cgA	p.R159R	ST6GAL2_ENST00000409087.3_Silent_p.R159R|ST6GAL2_ENST00000361686.4_Silent_p.R159R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	159					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAGCCCCCTCCCGTGGGCCTG	0.652000													91	163					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914404	147914404	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147914404G>A	ENST00000361727.3	+	19	3551	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G71E	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1012					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGAAGAAGGGATGTGGCTA	0.488000										HNSCC(39;0.1)			12	254					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45047476	45047476	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45047476G>A	ENST00000558173.1	+	0	2361				TRIM69_ENST00000329464.4_Missense_Mutation_p.D129N|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000559390.1_Missense_Mutation_p.D129N|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69						apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CAGTAAACCAGATGGGAAACT	0.473000													37	73					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79372957	79372957	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79372957A>G	ENST00000264895.6	+	46	6935	c.6495A>G	c.(6493-6495)gaA>gaG	p.E2165E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2164					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAACAGGAGAACCTGGAGGGA	0.383000													16	28					0	0	1	0	0
CGB7	94027	broad.mit.edu	37	19	49558630	49558630	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49558630C>T	ENST00000597853.1	-	3	2874	c.3G>A	c.(1-3)atG>atA	p.M1I	CGB7_ENST00000596965.1_Start_Codon_SNP_p.M1I|CGB7_ENST00000377280.3_Start_Codon_SNP_p.M1I|CGB7_ENST00000356213.4_5'UTR					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-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)		GGAACATCTCCATCCTTGGTG	0.602000													95	219					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166234156G>A	ENST00000375437.2	+	23	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1435Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1435Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1435Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000													36	77					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289647	46289647	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46289647G>A	ENST00000270223.6	-	3	1152	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	DMWD_ENST00000377735.3_Silent_p.S369S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	369					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGTTGACCCAGGACTTGTGGC	0.672000													5	187					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952932	71952932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:71952932G>A	ENST00000355327.3	+	8	1350	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	THSD4_ENST00000261862.6_Missense_Mutation_p.G406R|THSD4_ENST00000357769.4_Missense_Mutation_p.G46R|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	406						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTGTGTGGAGGAGACAACAC	0.532000													60	189					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967745	81967745	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:81967745C>T	ENST00000282701.2	+	2	1490	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	390					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGATTATCTCCCCCAAGTCCT	0.463000													70	142					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150123193	150123193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150123193G>A	ENST00000369124.4	+	2	400	c.122G>A	c.(121-123)tGg>tAg	p.W41*	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.W41*|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	41	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGAGATTTGGAAAAACCGC	0.567000													7	264					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63257752	63257752	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63257752G>A	ENST00000540857.1	-	2	334	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78S|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78S	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						AATGTGCCCGGCGGAGGCTGC	0.498000													165	317					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165381522	165381522	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:165381522T>A	ENST00000263915.3	-	5	1208	c.670A>T	c.(670-672)Att>Ttt	p.I224F	GRB14_ENST00000543549.1_Missense_Mutation_p.I137F	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	224					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						aCCTGCAAAATCTGTGTGGGG	0.279000													33	74					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301305	29301305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:29301305G>A	ENST00000378993.1	+	3	1006	c.333G>A	c.(331-333)caG>caA	p.Q111Q	IL1RAPL1_ENST00000302196.4_Silent_p.Q111Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	111	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTGCTACAGGACAGTGGTC	0.443000													45	26					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411610	126411610	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126411610G>A	ENST00000394329.3	+	17	13646	c.13633G>A	c.(13633-13635)Gag>Aag	p.E4545K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2786K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4545					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAACCGAAGGAGAAGAAGAA	0.512000													48	79					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363282	11363282	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:11363282C>T	ENST00000379261.4	+	11	1280	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	CELF2_ENST00000416382.2_Silent_p.A396A|CELF2_ENST00000354897.3_Silent_p.A390A|CELF2_ENST00000537122.1_Silent_p.A291A|CELF2_ENST00000315874.3_Silent_p.A378A|CELF2_ENST00000399850.3_Silent_p.A378A|CELF2_ENST00000354440.2_Silent_p.A378A|CELF2_ENST00000450189.1_Silent_p.A409A|CELF2_ENST00000542579.1_Silent_p.A409A|CELF2_ENST00000417956.2_Silent_p.A376A|CELF2_ENST00000427450.1_Silent_p.A378A	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	396	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGCAGCCGCCGCGCTGCCCA	0.652000													41	65					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168222515	168222515	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:168222515C>T	ENST00000519560.1	-	10	1423	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R335Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R335Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	335					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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			AACTCACATTCGCTTCAGTTT	0.488000													39	79					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185516	140185516	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:140185516G>A	ENST00000458420.3	+	8	1477	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	429					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGCGGAAGGACTTCGACC	0.537000										HNSCC(16;0.037)			31	71					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961982	70961982	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70961982C>T	ENST00000357250.6	-	27	1959	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G358R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G358R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	601	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCTGAATTTCCCATCTGACCA	0.423000													39	82					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71062448	71062448	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71062448G>A	ENST00000396094.2	+	2	139	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323000													19	35					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919558	4919558	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:4919558C>T	ENST00000433855.1	+	1	1217	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KCNA6_ENST00000280684.3_Silent_p.F117F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGACATTTTCCTGGAGGAGA	0.672000										HNSCC(72;0.22)			7	125					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301749	11301749	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11301749G>A	ENST00000397056.1	+	3	1217	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	HRH1_ENST00000431010.2_Silent_p.G342G|HRH1_ENST00000438284.2_Silent_p.G342G	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	342					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACACACATGGGGCCAGCGAGA	0.552000													29	83					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173575	51173575	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:51173575G>A	ENST00000440970.1	-	2	2698	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F	SALL1_ENST00000251020.4_Missense_Mutation_p.S853F|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	853					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGGCGAAGAGGATAAGCT	0.522000													62	67					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922620	24922620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:24922620C>T	ENST00000329468.2	+	1	2080	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTTCCAGTCCCTTCCACCGG	0.527000													90	213					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90485751	90485751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:90485751C>T	ENST00000335725.4	+	15	1883	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	TDP1_ENST00000555880.1_Missense_Mutation_p.P545S|TDP1_ENST00000357382.3_Missense_Mutation_p.P306S|TDP1_ENST00000393454.2_Missense_Mutation_p.P545S|TDP1_ENST00000393452.3_Missense_Mutation_p.P545S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	545					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTTTTCCTCCCTTCAGCATT	0.512000								Repair of DNA-protein crosslinks					16	29					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850389	35850389	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35850389C>T	ENST00000327809.4	+	2	798	c.597C>T	c.(595-597)atC>atT	p.I199I	FFAR3_ENST00000594310.1_Silent_p.I199I	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	199						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGCTGATCATCACCAGCTACT	0.662000													26	39					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896524	153896524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:153896524C>T	ENST00000511601.1	+	12	2269	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S694F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	694					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGGAGACCTCCCAGCTGACT	0.617000													24	64					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066065	168066065	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:168066065G>A	ENST00000367838.1	-	5	1093	c.780C>T	c.(778-780)gtC>gtT	p.V260V	GPR161_ENST00000546300.1_Silent_p.V146V|GPR161_ENST00000367836.1_Silent_p.V128V|GPR161_ENST00000367835.1_Silent_p.V260V|GPR161_ENST00000539777.1_Silent_p.V182V|GPR161_ENST00000271357.5_Silent_p.V260V|GPR161_ENST00000361697.2_Silent_p.V260V|GPR161_ENST00000537209.1_Silent_p.V280V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	260					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGGCCGAGTAGACCACACCCT	0.597000													139	143					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94436524	94436524	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:94436524G>A	ENST00000282020.4	+	13	2413	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	GRID2_ENST00000510992.1_Missense_Mutation_p.E624K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	719					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAATGGATCGGAGAACAATGT	0.473000													28	70					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49214154	49214154	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:49214154C>T	ENST00000327979.2	-	14	2152	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	FAM65C_ENST00000045083.2_Missense_Mutation_p.D581N|FAM65C_ENST00000535356.1_Missense_Mutation_p.D585N			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	581										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACAGCTCATCCAGGGCGAAG	0.652000													4	15					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349860	113349860	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:113349860G>A	ENST00000297405.5	-	43	6997	c.6753C>T	c.(6751-6753)ttC>ttT	p.F2251F	CSMD3_ENST00000352409.3_Silent_p.F2181F|CSMD3_ENST00000343508.3_Silent_p.F2211F|CSMD3_ENST00000455883.2_Silent_p.F2147F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2251	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTATCCTGGGAAACATTCAA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	92					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24408611	24408611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24408611C>T	ENST00000330966.7	-	18	2325	c.2163G>A	c.(2161-2163)tgG>tgA	p.W721*	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.W720*|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.W720*|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	720	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGGGGGTTTCCACCCAATGA	0.582000													9	13					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279119	51279119	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:51279119C>T	ENST00000551456.1	+	4	788	c.743C>T	c.(742-744)cCt>cTt	p.P248L	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.P248L			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	248	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GGAATAATTCCTAACACTTCA	0.363000													68	137					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665296	157665296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157665296G>A	ENST00000368184.3	-	8	1525	c.1234C>T	c.(1234-1236)Ccg>Tcg	p.P412S	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.P412S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	412	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.P412S(2)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TACAGGATCGGGGGAGAGCCT	0.597000													68	84					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279710	85279710	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:85279710G>A	ENST00000440886.1	-	2	919	c.881C>T	c.(880-882)tCc>tTc	p.S294F	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.S294F			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	294					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GTCCTTGTAGGAGTAGATGAT	0.572000													71	117					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45317897	45317897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45317897G>A	ENST00000391955.1	+	8	1002	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	BCAM_ENST00000270233.6_Missense_Mutation_p.G320R			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	320	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAATCTCGAGGGGAACTTGAC	0.622000													29	72					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489517	133489517	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133489517C>T	ENST00000409261.1	-	17	5609	c.5236G>A	c.(5236-5238)Gag>Aag	p.E1746K	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E427K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E427K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1746K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1746							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGCGTCCTCTGGGGAGTCT	0.572000													17	37					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337977	28337977	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:28337977G>A	ENST00000284987.5	-	1	855	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	245					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCAGCGGGCGAGAGAGCGGA	0.741000													4	15					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909541	129909541	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:129909541G>A	ENST00000222481.4	+	3	241	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	62					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCACCCCAGGGGAGACAGCCC	0.507000													13	153					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991681	38991681	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38991681G>A	ENST00000302328.3	-	1	371	c.173C>T	c.(172-174)gCc>gTc	p.A58V	SCN11A_ENST00000444237.2_Missense_Mutation_p.A58V|SCN11A_ENST00000456224.3_Missense_Mutation_p.A58V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A58V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	58					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)	CTTCCTGGAGGCCTTTAGGTC	0.498000													75	178					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48306082	48306082	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48306082G>A	ENST00000535759.1	-	4	476	c.477C>T	c.(475-477)atC>atT	p.I159I	TPRX1_ENST00000543508.1_Silent_p.I62I|TPRX1_ENST00000322175.3_Silent_p.I62I			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	62	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCGCTGGAAGGATTCCCGAGG	0.726000													10	20					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51783791	51783791	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:51783791C>T	ENST00000251076.5	-	20	5224	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.R1010Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1646Q|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1646						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)		AATGCATCTTCGAAGCGTGTT	0.383000													13	123					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52824452	52824452	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52824452G>A	ENST00000252245.5	-	5	1128	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	303	Linker 12.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGCACCACGGATGTGTCACC	0.537000													57	140					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167753919	167753919	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167753919C>T	ENST00000239587.5	+	3	619	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	177	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTACCAGTTCATCCCCCTGA	0.498000													40	59					0	0	1	0	0
TPGS1	91978	broad.mit.edu	37	19	519021	519021	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:519021C>T	ENST00000359315.5	+	2	679	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	157					multicellular organismal development	axon|centrosome|cilium axoneme|dendrite|flagellar axoneme|microtubule|microtubule basal body											GCCAAGCCCCCGAGGAGGTGG	0.731000													6	11					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42424885	42424885	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:42424885C>G	ENST00000381668.5	-	35	3475	c.3244G>C	c.(3244-3246)Gat>Cat	p.D1082H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D1067H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1082					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGAACTTCATCGACCAATGTT	0.353000													74	154					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731705	124731705	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124731705C>T	ENST00000311127.4	-	6	2785	c.2718G>A	c.(2716-2718)gtG>gtA	p.V906V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	906						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CATCCACAATCACTCGGTTCC	0.478000													36	57					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585021	82585021	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82585021C>T	ENST00000423517.2	-	5	5585	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R	PCLO_ENST00000333891.8_Missense_Mutation_p.G1750R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1681					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						TTGCTCTCTCCTTTTTTGTGA	0.473000													12	401					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704664	101704664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:101704664G>A	ENST00000305352.6	+	2	499	c.124G>A	c.(124-126)Gag>Aag	p.E42K	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	42					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGCGGACAAGGAGAACAGCAT	0.478000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	101					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796938	127796938	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:127796938G>A	ENST00000556132.1	-	6	3097	c.2233C>T	c.(2233-2235)Cgc>Tgc	p.R745C	SOGA3_ENST00000481848.2_Missense_Mutation_p.R745C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R745C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R745C|SOGA3_ENST00000525778.1_Missense_Mutation_p.R745C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	745						integral to membrane											GGGCTGCCGCGGATGCCCAGG	0.677000													105	61					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105544182	105544182	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:105544182G>A	ENST00000276654.5	-	2	197	c.89C>T	c.(88-90)gCt>gTt	p.A30V	LRP12_ENST00000424843.2_Intron	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	30					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGCAAGAGCACCATTTCC	0.279000													36	105					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49135647	49135647	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49135647C>A	ENST00000306125.6	-	22	2466	c.2129G>T	c.(2128-2130)gGa>gTa	p.G710V	QARS_ENST00000414533.1_Missense_Mutation_p.G699V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	710					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACTTAAAAATCCACCAGGCAC	0.552000													43	67					1.47197e-15	1.48432e-15	1	1	0
SMYD4	114826	broad.mit.edu	37	17	1703925	1703925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1703925G>A	ENST00000305513.7	-	5	930	c.763C>T	c.(763-765)Cca>Tca	p.P255S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	255							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AGCTCTCCTGGGAGAATATCT	0.512000													64	107					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208203	49208203	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49208203C>A	ENST00000340334.7	-	6	955	c.587G>T	c.(586-588)gGa>gTa	p.G196V	FOLH1_ENST00000256999.2_Missense_Mutation_p.G211V|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G196V|FOLH1_ENST00000356696.3_Missense_Mutation_p.G211V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	211					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACCTTATTTCCTCTGAAAAC	0.323000													7	113					1.06961e-07	1.07491e-07	1	1	0
RIMKLA	284716	broad.mit.edu	37	1	42875728	42875728	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:42875728C>T	ENST00000431473.3	+	4	684	c.555C>T	c.(553-555)ccC>ccT	p.P185P		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	185	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACGATGTGCCCTACCTGTTCC	0.507000													12	237					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140809127	140809127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140809127C>T	ENST00000371372.1	+	5	789	c.644C>T	c.(643-645)tCc>tTc	p.S215F	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S215F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S215F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S215F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S215F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	215					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGCTCAAGTCCATCATGAAG	0.557000													14	26					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270629	1270629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1270629G>A	ENST00000348261.5	+	35	6945	c.6697G>A	c.(6697-6699)Gag>Aag	p.E2233K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2227K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2227K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2233					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGACTCCCTGGAGCCCACAGA	0.746000													8	22					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491454	103491454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103491454C>T	ENST00000358392.2	-	6	1152	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	279	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGATTTTTCCTTTGATTTA	0.338000													51	117					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81293408	81293408	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81293408C>T	ENST00000258168.2	+	3	782	c.321C>T	c.(319-321)tcC>tcT	p.S107S	BCMO1_ENST00000564552.1_Silent_p.S107S|BCMO1_ENST00000425577.2_Intron	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	107					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACATATTTTCCAAGTAACTGC	0.408000													6	80					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123988981	123988981	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123988981C>T	ENST00000369005.1	+	15	8357	c.8017C>T	c.(8017-8019)Cta>Tta	p.L2673L	TACC2_ENST00000369004.3_Silent_p.L763L|TACC2_ENST00000368999.1_Silent_p.L763L|TACC2_ENST00000358010.1_Silent_p.L819L|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Silent_p.L751L|TACC2_ENST00000334433.3_Silent_p.L2673L|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000513429.1_Silent_p.L819L|TACC2_ENST00000360561.3_Silent_p.L751L|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2673						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAACCCCCCACTATTCGCTCA	0.527000													19	500					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093813	160093813	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160093813G>A	ENST00000361216.3	+	5	551	c.462G>A	c.(460-462)aaG>aaA	p.K154K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.K154K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	154					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAGCTCCAAGATCATGGATT	0.512000													32	106					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221643	161221643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:161221643G>A	ENST00000327928.4	+	4	1347	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	449	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAAAAGATTGGAATGGGGTGT	0.443000													9	36					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976336	121976336	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:121976336C>T	ENST00000265922.3	-	6	1244	c.783G>A	c.(781-783)caG>caA	p.Q261Q	DBC1_ENST00000373964.2_Silent_p.Q261Q	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		261					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ACTGGCTGTTCTGGCACAGGT	0.537000													46	73					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545804	43545804	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43545804G>A	ENST00000430334.3	-	5	1212	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P271L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	360					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGCCTGGGCAGGAAGGGGCTC	0.632000													24	44					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36424902	36424902	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:36424902G>A	ENST00000379892.4	-	7	1258	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	349					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAGAGAGGGGGCGGTACAGGT	0.483000													25	74					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361859	9361859	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9361859G>A	ENST00000456448.1	+	1	254	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTCCTCGCTGGGCTGTTCCTG	0.577000													28	67					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47904832	47904832	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47904832G>A	ENST00000289672.2	-	26	4181	c.4131C>T	c.(4129-4131)ctC>ctT	p.L1377L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1377	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAAGCTCACGAGGTCCCTCA	0.338000													15	29					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100478521	100478521	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100478521C>T	ENST00000273962.3	-	4	713	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	TRMT10A_ENST00000394877.3_Missense_Mutation_p.R134Q|TRMT10A_ENST00000394876.2_Missense_Mutation_p.R134Q	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		ATGCAGTGCCCGTCGGTTTTC	0.343000													21	47					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399808	89399808	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89399808G>A	ENST00000479981.1	-	0	46																											CAGGAGCTGAGCGAGGACTCT	0.537000													34	77					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7820724	7820724	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:7820724G>A	ENST00000338316.4	+	24	3134	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	ADCY2_ENST00000537121.1_Silent_p.K835K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1015					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGCTCAGAAGCCACAATATG	0.463000													22	24					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474154	55474154	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55474154G>A	ENST00000371265.4	+	4	1070	c.816G>A	c.(814-816)agG>agA	p.R272R		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	272						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGTACCCAAGGACAAAGGTGG	0.587000													23	43					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208605	13208605	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13208605C>T	ENST00000197268.8	+	2	278	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	53						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGGAAGAGTCCTTTGGGAGAA	0.542000													44	79					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472743	39472743	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:39472743G>A	ENST00000518318.2	+	7	1136	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	POU6F2_ENST00000403058.1_Missense_Mutation_p.G365D|POU6F2_ENST00000559001.1_Missense_Mutation_p.G310D			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	365	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCACTCAGGGCTTGCAAGTG	0.587000													24	70					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137263045	137263045	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:137263045G>A	ENST00000453654.1	-	16	1308	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	DGKI_ENST00000446122.1_Missense_Mutation_p.R557C|DGKI_ENST00000424189.2_Missense_Mutation_p.R557C|DGKI_ENST00000288490.5_Missense_Mutation_p.R557C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	557					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTTCGAAAACGACTGTTGAAT	0.343000													34	65					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957445	35957445	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35957445G>A	ENST00000341959.2	-	1	706	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGACATAGGAGAAAGAGATGA	0.512000													8	135					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580765	7580765	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7580765G>A	ENST00000379802.3	+	23	4683	c.4342G>A	c.(4342-4344)Gag>Aag	p.E1448K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1448	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)		ACAGCAGCTGGAGGTTGAGCT	0.483000													50	126					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513419	50513419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50513419C>A	ENST00000419119.1	-	2	3120	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.E523*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	523					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.E523*(1)		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)				ACTAAAAATTCTGTTTTTATC	0.413000													55	128					6.4308e-24	6.50258e-24	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67054070	67054070	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:67054070G>A	ENST00000295568.4	+	3	732	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000417314.2_Missense_Mutation_p.E227K|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	227	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGAACAGAATGAAAGAGAAGT	0.378000													30	79					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925198	89925198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89925198C>T	ENST00000405460.2	+	9	1777	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	561					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ACTTTACATTCCTGCTGGAGC	0.413000													28	43					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71395377	71395377	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:71395377G>A	ENST00000392650.3	-	22	3023	c.3023C>T	c.(3022-3024)tCt>tTt	p.S1008F	SDK2_ENST00000388726.3_Missense_Mutation_p.S1008F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1008	Fibronectin type-III 5.				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						CAAGGTCACAGAGCGGGGGCC	0.637000													5	88					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799613	212799613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212799613G>A	ENST00000294829.3	+	1	1825	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	465										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCCTCATTCAGCCACAGAGCC	0.567000													52	65					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984929	110984929	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110984929G>C	ENST00000524391.1	-	3	1581	c.549C>G	c.(547-549)gaC>gaG	p.D183E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D183E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	183						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTGGGAGAAGTCCTGTTCAC	0.463000													49	96					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28964036	28964036	+	Silent	SNP	G	G	A	rs146003506		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28964036G>A	ENST00000282397.4	-	13	2117	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	FLT1_ENST00000541932.1_Silent_p.T622T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	622	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|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)	CATTCATGATGGTAAGATTAA	0.413000													75	125					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327159	54327159	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54327159C>T	ENST00000324134.6	-	1	438	c.270G>A	c.(268-270)caG>caA	p.Q90Q	NLRP12_ENST00000391775.3_Silent_p.Q90Q|NLRP12_ENST00000345770.5_Silent_p.Q90Q|NLRP12_ENST00000535162.1_Silent_p.Q90Q|NLRP12_ENST00000354278.3_Silent_p.Q90Q|NLRP12_ENST00000351894.4_Silent_p.Q90Q|NLRP12_ENST00000391773.1_Silent_p.Q90Q|NLRP12_ENST00000391772.1_Silent_p.Q90Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	90	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTCTCTCTGTCCTCTCT	0.592000													66	160					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940642	113940642	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113940642C>T	ENST00000245796.6	+	2	804	c.609C>T	c.(607-609)tcC>tcT	p.S203S	PSD4_ENST00000441564.2_Silent_p.S203S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	203					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTGCACTCCAGCCCACCTG	0.637000													19	51					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627529	187627529	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:187627529C>T	ENST00000304698.5	+	8	2663	c.2460C>T	c.(2458-2460)cgC>cgT	p.R820R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	820						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGAGGAACGCCCACTGATTC	0.428000													32	57					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873929	36873929	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36873929C>T	ENST00000429976.2	-	21	7260	c.7013G>A	c.(7012-7014)gGa>gAa	p.G2338E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1788E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G1788E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTTCTATTCCTTTTATCCT	0.493000													59	111					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108788544	108788544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108788544C>T	ENST00000232603.5	-	9	832	c.750G>A	c.(748-750)atG>atA	p.M250I	MORC1_ENST00000483760.1_Missense_Mutation_p.M250I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	250					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						TGAATATTCTCATCCATGGGT	0.383000													38	72					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540387	115540387	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115540387C>T	ENST00000354462.3	+	6	602	c.444C>T	c.(442-444)atC>atT	p.I148I	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.I316I|PLEKHS1_ENST00000369309.1_Silent_p.I232I					pleckstrin homology domain containing, family S member 1																		TCGGCAGGATCCCAAATTCAG	0.413000													29	93					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004566	187004566	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187004566G>A	ENST00000296795.2	+	4	1830	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	TLR3_ENST00000504367.1_Missense_Mutation_p.E299K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	576					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGCTTTGACGAGATCCCAGT	0.418000													42	87					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077169	7077169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7077169G>A	ENST00000535923.1	-	5	774	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PHB2_ENST00000399433.2_Missense_Mutation_p.R165C|PHB2_ENST00000542912.1_Missense_Mutation_p.R165C|PHB2_ENST00000440277.1_Missense_Mutation_p.R165C|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	165	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						AGCTCCCGGCGGATCAACAGG	0.587000													5	126					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000													67	212					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102782022	102782022	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102782022G>A	ENST00000370215.3	-	5	888	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	221	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGAAGCCCAGGCAGAAGTCGT	0.572000													25	42					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102004362	102004362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:102004362G>A	ENST00000394854.3	-	7	1524	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	PPP3CA_ENST00000523694.2_Missense_Mutation_p.H214Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.H281Y|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.H183Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.H281Y	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	281	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGGCTTCGTGGGCTCGGAGT	0.428000													6	482					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486815	125486815	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125486815C>A	ENST00000259466.1	+	1	547	c.547C>A	c.(547-549)Cag>Aag	p.Q183K		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTGTGACACCCAGCCTGTGCT	0.507000													16	397					9.22233e-05	9.25139e-05	1	1	0
HPS4	89781	broad.mit.edu	37	22	26849302	26849302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26849302G>A	ENST00000398145.2	-	14	2640	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L	HPS4_ENST00000402105.3_Missense_Mutation_p.P670L|HPS4_ENST00000398141.1_Missense_Mutation_p.P688L|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000336873.5_Missense_Mutation_p.P675L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	675					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCGTGCTGCAGGTGCCAGCTG	0.577000									Hermansky-Pudlak syndrome				83	166					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617631	111617631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:111617631C>T	ENST00000374667.3	-	1	1608	c.580G>A	c.(580-582)Ggg>Agg	p.G194R		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	194						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCACCAGCCCCGAGGTCTTG	0.662000													26	53					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407589	105407589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105407589C>T	ENST00000333244.5	-	7	14318	c.14199G>A	c.(14197-14199)acG>acA	p.T4733T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4733						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATAAAGGAATCGTGGAAAGAC	0.408000													29	58					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016808	21016808	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:21016808G>A	ENST00000247986.2	-	7	1564	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	KIF17_ENST00000400463.3_Silent_p.A418A|KIF17_ENST00000375044.1_Silent_p.A318A|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	418					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A418A(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTTCAGCCGGGCCAGGCGCT	0.562000													17	59					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874893	45874893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45874893C>T	ENST00000311275.7	-	14	2336	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	ZMYND8_ENST00000262975.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E715K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E690K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E690K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E722K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E643K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E715K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E690K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E632K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E715K			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	695							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAATCCGTCTCATCTTTTCCC	0.498000													15	215					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102501657	102501657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102501657G>A	ENST00000413150.2	+	25	2894	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	MAP4K4_ENST00000456652.1_Missense_Mutation_p.E831K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E1065K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E1113K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E951K|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E1032K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E835K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E1072K	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1032	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGTAAAATATGAAAGAATCAA	0.363000													5	15					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52902771	52902771	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52902771G>A	ENST00000356971.3	-	4	611	c.122C>T	c.(121-123)tCc>tTc	p.S41F	ICK_ENST00000350082.5_Missense_Mutation_p.S41F	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	41	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTCCTCCCAGGAATAAAATTT	0.303000													19	42					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145303970	145303970	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145303970C>T	ENST00000342960.5	+	9	1402	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.S185L|NBPF10_ENST00000369339.2_Missense_Mutation_p.S185L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	456										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGCAGAAATCATCTGCCCCC	0.438000													47	339					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674822	25674822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25674822G>A	ENST00000382051.3	+	10	1212	c.1162G>A	c.(1162-1164)Ggc>Agc	p.G388S	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G387S|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G387S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	388					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAAGATCCTGGGCTCTGTGCT	0.532000			T	ROS1	NSCLC								23	82					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71780302	71780302	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71780302C>T	ENST00000258104.3	+	20	2191	c.1914C>T	c.(1912-1914)agC>agT	p.S638S	DYSF_ENST00000409651.1_Silent_p.S670S|DYSF_ENST00000410041.1_Silent_p.S656S|DYSF_ENST00000394120.2_Silent_p.S639S|DYSF_ENST00000429174.2_Silent_p.S638S|DYSF_ENST00000409366.1_Silent_p.S639S|DYSF_ENST00000409744.1_Silent_p.S625S|DYSF_ENST00000409582.3_Silent_p.S655S|DYSF_ENST00000409762.1_Silent_p.S655S|DYSF_ENST00000413539.2_Silent_p.S669S|DYSF_ENST00000410020.3_Silent_p.S656S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	638						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCAGTACAGCCGTGCAGTCT	0.582000													43	90					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201053	24201053	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24201053G>A	ENST00000536471.1	-	3	1313	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	CNR2_ENST00000374472.4_Missense_Mutation_p.S352F			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	352					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TAGATCTCTGGAATCTGGCCA	0.507000													58	182					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37986291	37986291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:37986291C>T	ENST00000343823.6	+	12	1658	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	ASH2L_ENST00000545394.1_Missense_Mutation_p.P311L|ASH2L_ENST00000521652.1_Missense_Mutation_p.P356L|ASH2L_ENST00000428278.2_Missense_Mutation_p.P356L|ASH2L_ENST00000250635.7_Missense_Mutation_p.P356L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	450	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTTCAAGCTCCTTTAGGTTAT	0.398000													5	195					0	0	1	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556541	22556541	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22556541G>A	ENST00000390286.2	+	0	367																											CCAGGTGTACGAAAGTAGTGC	0.463000													39	92					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70808246	70808246	+	Missense_Mutation	SNP	T	T	A	rs143532580	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:70808246T>A	ENST00000358731.4	+	18	4501	c.4238T>A	c.(4237-4239)aTt>aAt	p.I1413N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1413					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTTCAGATATTAATTTAAGG	0.323000													4	105					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56646568	56646568	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56646568G>A	ENST00000389934.3	-	27	4108	c.3991C>T	c.(3991-3993)Cta>Tta	p.L1331L	TEX14_ENST00000349033.5_Silent_p.L1291L|TEX14_ENST00000240361.8_Silent_p.L1337L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1337						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCAAGTAGCTCCTGAGAT	0.418000													31	81					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908056	12908056	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12908056C>T	ENST00000317869.6	-	2	312	c.87G>A	c.(85-87)aaG>aaA	p.K29K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CATCCGATTTCTTGACAACAA	0.443000													36	240					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656563	12656563	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12656563C>T	ENST00000425538.1	+	10	2158	c.1958C>T	c.(1957-1959)cCa>cTa	p.P653L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P653L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P557L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	647					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGTTTGCCCCCATCACCCAAC	0.587000													63	116					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866250	131866250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131866250G>A	ENST00000359827.3	-	18	4344	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	PLXNA4_ENST00000321063.4_Silent_p.L1128L			Q9HCM2	PLXA4_HUMAN	plexin A4	1128	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGATGAGCAGGGACTGGACG	0.602000													55	241					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52188400	52188400	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52188400C>T	ENST00000354534.5	+	26	4948	c.4770C>T	c.(4768-4770)ttC>ttT	p.F1590F	SCN8A_ENST00000545061.1_Silent_p.F1549F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1590					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTTCGACTTCGTGGTAGTCA	0.498000													9	30					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026454	61026454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61026454G>A	ENST00000335613.5	-	20	2947	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	VWCE_ENST00000535710.1_Missense_Mutation_p.A319V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	854	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGAGTGGGGGCTCCTGGAGG	0.652000													26	38					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294774	184294774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184294774C>T	ENST00000330394.2	+	5	1609	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	386	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGAGGGGCCTCAGCCTGC	0.637000													67	192					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906541	42906541	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42906541G>T	ENST00000422265.1	+	3	722	c.547G>T	c.(547-549)Gta>Tta	p.V183L	ACKR2_ENST00000273145.2_Missense_Mutation_p.V183L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V183L|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TATGGTCTTTGTACAGACACA	0.567000													62	135					3.86002e-21	3.90109e-21	1	1	0
ABT1	29777	broad.mit.edu	37	6	26598599	26598599	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26598599C>T	ENST00000274849.1	+	3	576	c.545C>T	c.(544-546)aCc>aTc	p.T182I		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AAGCGTGAGACCGACTTCTAT	0.617000													44	103					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929335	189929335	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189929335C>T	ENST00000374866.3	-	25	1938	c.1664G>A	c.(1663-1665)gGa>gAa	p.G555E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	555					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCCTGGCTTCCTTTGGGTCC	0.512000													36	72					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9828733	9828733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9828733G>A	ENST00000343450.2	-	6	1314	c.767C>T	c.(766-768)cCc>cTc	p.P256L	TADA3_ENST00000440161.1_Missense_Mutation_p.P256L|TADA3_ENST00000301964.2_Missense_Mutation_p.P256L	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	256					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GGCACCAAAGGGGCATCCATC	0.547000											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	168					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246755189	246755189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:246755189C>T	ENST00000366513.4	+	2	594	c.325C>T	c.(325-327)Cct>Tct	p.P109S	CNST_ENST00000366512.3_Missense_Mutation_p.P109S|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	109					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAAAAAAATTCCTGGAAAAAG	0.393000													50	46					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150813	173150813	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:173150813C>T	ENST00000506823.1	+	3	802	c.145C>T	c.(145-147)Cca>Tca	p.P49S	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P32S	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	49						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAGACATTTCCACTGGGCCT	0.433000													11	26					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74190407	74190407	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:74190407T>C	ENST00000498286.1	+	7	1416	c.1139T>C	c.(1138-1140)gTt>gCt	p.V380A	MTO1_ENST00000370300.4_Missense_Mutation_p.V405A|MTO1_ENST00000370305.1_Missense_Mutation_p.V331A|MTO1_ENST00000415954.2_Missense_Mutation_p.V380A			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	405					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGCTACGGTGTTCAGTATGAT	0.428000													9	188					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855599	79855599	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79855599C>T	ENST00000338682.3	-	5	912	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	80						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGATTTGTCCTGTATGTTGG	0.463000													75	157					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893761	123893761	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123893761C>T	ENST00000375024.1	+	1	42	c.42C>T	c.(40-42)ggC>ggT	p.G14G		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTCACGGGCCTTCCCCATG	0.567000													18	185					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69701480	69701480	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:69701480C>T	ENST00000409014.1	+	7	1063	c.406C>T	c.(406-408)Cct>Tct	p.P136S	EXD2_ENST00000312994.5_Missense_Mutation_p.P261S|EXD2_ENST00000409018.3_Missense_Mutation_p.P261S|EXD2_ENST00000409675.1_Missense_Mutation_p.P136S|EXD2_ENST00000409242.1_Missense_Mutation_p.P136S|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000409949.1_Missense_Mutation_p.P136S|EXD2_ENST00000449989.1_Missense_Mutation_p.P136S	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	136					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						TCTTGGATACCCTTTCTCTAG	0.448000													29	41					0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64449109	64449109	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:64449109C>T	ENST00000300026.3	-	4	562		c.e4-1		PPIB_ENST00000558492.1_Splice_Site|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)						protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	ATGCTCTTTCCTGGGAAAAAA	0.577000													22	46					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530500	150530500	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150530500G>A	ENST00000271643.4	+	14	2493	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E776K|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E753K|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E753K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	753	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGCCGGCAGGAATTTGGGGG	0.701000													127	112					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17945879	17945879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:17945879C>T	ENST00000361221.3	+	10	1040	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S52L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S294L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	294					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTCAGCGTTTCGGACATCAAG	0.657000													4	40					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161832	239161832	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:239161832G>C	ENST00000254657.3	-	19	3111	c.2832C>G	c.(2830-2832)gcC>gcG	p.A944A	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	944	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGGCTGTGAGGCAGAGGCCA	0.662000													7	101					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138174089	138174089	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138174089G>A	ENST00000389567.4	+	3	609	c.423G>A	c.(421-423)cgG>cgA	p.R141R	ESYT3_ENST00000289135.4_Silent_p.R141R	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	141						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCAAGTTCCGGGAGAAACTTG	0.527000													50	103					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820801	24820801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24820801G>A	ENST00000376451.2	+	10	2434	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G725E|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G725E|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1006E|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G725E|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G962E|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1007E|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1042E			Q5T5P2	SKT_HUMAN	KIAA1217	1042					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGCTGGGGGGAAAGTCGCCC	0.517000													18	22					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52322009C>T	ENST00000356297.4	-	17	2275	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PXDNL_ENST00000543296.1_Silent_p.A725A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	725					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)				CGCGGTACTTCGCATGGAAAC	0.657000													19	35					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49958277	49958277	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49958277G>A	ENST00000550165.1	-	7	810	c.544C>T	c.(544-546)Cct>Tct	p.P182S	MCRS1_ENST00000357123.4_Missense_Mutation_p.P195S|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.P182S			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	182					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GAGATGACAGGATCGTAGAGC	0.602000													3	27					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187886	121187886	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:121187886C>T	ENST00000321339.1	+	1	237	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	76	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ACCCCGACTCCGAGGCTGCCA	0.682000													20	42					0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139230424	139230424	+	Splice_Site	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139230424A>C	ENST00000440944.1	+	3	512	c.290_splice	c.e3-1	p.T98_splice	GPSM1_ENST00000392945.3_Splice_Site_p.T98_splice	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	98	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCCATCCAGGACCATCGGTGA	0.682000													10	22					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666507	20666507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20666507C>T	ENST00000357366.3	+	1	1013	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGAGAAAAGCTCTGAAGAAA	0.348000													59	112					0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156756518	156756518	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156756518C>T	ENST00000271526.4	+	3	907	c.635C>T	c.(634-636)tCc>tTc	p.S212F	PRCC_ENST00000353233.3_Missense_Mutation_p.S212F|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	212					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGGATGGCTCCCCTGATACT	0.557000			T	TFE3	papillary renal								7	182					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102794491	102794491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102794491C>T	ENST00000393459.1	+	3	513	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	SFXN3_ENST00000224807.5_Missense_Mutation_p.R18C			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	18					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCAGGAACCTCGCTGGGACCA	0.542000													88	249					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977175	160977175	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160977175C>T	ENST00000447678.1	-	31	4975	c.4855G>A	c.(4855-4857)Ggt>Agt	p.G1619S	LPA_ENST00000316300.5_Missense_Mutation_p.G1619S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4127	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGCCATTACCATGGTAGCAC	0.488000													11	172					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271670	36271670	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36271670C>T	ENST00000007510.4	+	10	925	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P261S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P125S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	261					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TGCCGATGGCCCCCCATGTGG	0.642000													31	136					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585407	51585407	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:51585407G>A	ENST00000389243.4	-	10	1471	c.532C>T	c.(532-534)Cca>Tca	p.P178S	POU6F1_ENST00000333640.10_Missense_Mutation_p.P178S|POU6F1_ENST00000550824.1_Missense_Mutation_p.P178S			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	178	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CTGTAGGCTGGACCTTCCGTT	0.602000													42	94					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654584	160654584	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160654584C>T	ENST00000368045.3	-	2	517	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CD48_ENST00000368046.3_Intron			P09326	CD48_HUMAN	CD48 molecule	0	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCCTCCTCCCCGAGAGTG	0.507000													23	105					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212522689	212522689	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:212522689G>A	ENST00000402597.1	-	16	1901	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000342788.4_Intron			Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	634					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)		CCATCAGGCCGATGCAGTCTT	0.408000										TSP Lung(8;0.080)			13	38					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275578	233275578	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233275578C>T	ENST00000258229.8	-	20	3775	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.E314K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1181						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAGAGTCTTTCGAACCACATT	0.323000													14	38					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749551	41749551	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41749551G>A	ENST00000226382.2	-	2	603	c.244C>T	c.(244-246)Cct>Tct	p.P82S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	82					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AGTTTGTAAGGAACTAGAGTA	0.572000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				28	77					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737485	248737485	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248737485G>A	ENST00000328782.2	-	1	595	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGCAGGAGAGCTTCAGCAGG	0.512000													15	214					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578057	30578057	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:30578057G>A	ENST00000378962.3	-	3	738	c.416C>T	c.(415-417)tCa>tTa	p.S139L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	139										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGTTGTCACTGAATTAATGGC	0.433000													43	21					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43835703	43835703	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43835703C>T	ENST00000372781.3	+	1	66	c.9C>T	c.(7-9)ccC>ccT	p.P3P	SEMG1_ENST00000244069.6_Silent_p.P3P	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATGAAGCCCAACATCATCT	0.473000													33	106					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110568	57110568	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57110568G>A	ENST00000454682.1	-	3	5027	c.4746C>T	c.(4744-4746)ccC>ccT	p.P1582P	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCACTGCTGGGGGACTGGAGG	0.572000			T	BCL6	NHL								12	30					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164002	12164002	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:12164002C>T	ENST00000379388.2	+	9	7797	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P354S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2489					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGTCACTCCCCTCGTTAAG	0.517000													6	183					0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50356590	50356590	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50356590T>G	ENST00000360612.4	+	6	1231	c.796T>G	c.(796-798)Tgc>Ggc	p.C266G		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	266	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCACAGAGTGCCAGCAGCT	0.711000													20	47					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343269	12343269	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12343269G>A	ENST00000358136.3	+	21	5240	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1704K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1704					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCACAAAAAGAATACCTTTC	0.453000													58	133					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27259944	27259944	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:27259944G>A	ENST00000361042.4	+	10	1687	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	WASF3_ENST00000335327.5_Missense_Mutation_p.D491N			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	491					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACTCTGACGACGACTCAGA	0.622000													21	30					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284804	223284804	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223284804G>A	ENST00000540964.1	-	4	2031	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	TLR5_ENST00000342210.6_Missense_Mutation_p.H524Y			O60602	TLR5_HUMAN	toll-like receptor 5	524			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCAGTCAGATGGCTAAATACT	0.408000													77	71					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921606	77921606	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:77921606C>T	ENST00000529308.1	+	10	2966	c.2705C>T	c.(2704-2706)tCc>tTc	p.S902F	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.S470F|USP35_ENST00000526425.1_Missense_Mutation_p.S633F|USP35_ENST00000441408.2_Missense_Mutation_p.S488F	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	902					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCTTCTCTTCCTTCGAATCT	0.607000													19	210					0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19735202	19735202	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19735202G>A	ENST00000542587.1	-	6	1821	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	LPAR2_ENST00000586703.1_Missense_Mutation_p.R307C|LPAR2_ENST00000407877.3_Missense_Mutation_p.R307C			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	307					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGAAGGCGGCGGAAGGTGCGG	0.607000													45	81					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	C	T	rs139022158	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48920047C>T	ENST00000310194.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000													36	55					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:106573624G>A	ENST00000407775.2	+	4	585	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000													24	43					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30795437	30795437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30795437G>A	ENST00000262525.4	-	3	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTGGGGGACAGAGGGGTCCTG	0.612000													12	14					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647098	81647098	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81647098C>T	ENST00000548058.1	+	14	2642	c.1732C>T	c.(1732-1734)Cat>Tat	p.H578Y	ACSS3_ENST00000548324.1_Missense_Mutation_p.H260Y|ACSS3_ENST00000261206.3_Missense_Mutation_p.H577Y			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	578						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AATCCTTTCCCATGGTACCGT	0.358000													71	176					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112927802	112927802	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:112927802C>T	ENST00000161863.4	+	28	4352	c.4139C>T	c.(4138-4140)cCc>cTc	p.P1380L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1380	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAAGCCTTCCCTTTCAATTT	0.423000													19	28					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038181	75038181	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75038181C>T	ENST00000326665.5	-	14	3431	c.3213G>A	c.(3211-3213)agG>agA	p.R1071R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1071	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTCAGTTTTCCTCAGAGATG	0.408000													86	138					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243512	10243512	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10243512G>A	ENST00000418404.3	-	17	2174	c.2011C>T	c.(2011-2013)Cct>Tct	p.P671S	MYH13_ENST00000252172.4_Missense_Mutation_p.P671S|MYH13_ENST00000570743.1_Missense_Mutation_p.P671S|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	671	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAAAGTGAGGGTGGGTGCTC	0.428000													10	19					0	0	1	0	0
C16orf82	162083	broad.mit.edu	37	16	27078357	27078357	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27078357G>A	ENST00000505035.1	+	0	330				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			TTTCTCGAGGGAGAAAAAGGG	0.587000													21	41					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068516	60068516	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60068516A>G	ENST00000355131.3	+	5	539	c.316A>G	c.(316-318)Act>Gct	p.T106A	MS4A4A_ENST00000395016.3_Missense_Mutation_p.T106A|MS4A4A_ENST00000337908.4_Missense_Mutation_p.T125A|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T125A	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	125						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGAATTAGAACTACAAAAGG	0.308000													17	40					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36358999	36358999	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36358999A>C	ENST00000312412.4	-	6	691	c.692T>G	c.(691-693)gTg>gGg	p.V231G	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.V76G																kidney(1)|lung(3)	4						CTTCACTTCCACTAAATTTTC	0.348000													10	182					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329922	33329922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33329922G>A	ENST00000374796.2	-	12	6708	c.4138C>T	c.(4138-4140)Cct>Tct	p.P1380S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1380S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1380					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGGCCAGAGGAGTGGGACTG	0.498000													36	70					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169060666	169060666	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169060666C>T	ENST00000359299.3	+	3	316	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	44							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GATCAACATTCTGACTCAGCG	0.413000													9	42					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12618679	12618679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:12618679C>T	ENST00000566228.1	+	20	2368	c.2299C>T	c.(2299-2301)Cag>Tag	p.Q767*	SNX29_ENST00000306030.3_Nonsense_Mutation_p.Q382*|SNX29_ENST00000323433.4_Nonsense_Mutation_p.Q382*	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	382					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GACCCTCATCCAGCTGATGCC	0.562000													55	125					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215945	16215945	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:16215945C>T	ENST00000399408.2	+	25	3709	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	ABCC1_ENST00000349029.5_Silent_p.F1053F|ABCC1_ENST00000351154.5_Silent_p.F1109F|ABCC1_ENST00000399410.3_Silent_p.F1168F|ABCC1_ENST00000346370.5_Silent_p.F1112F|ABCC1_ENST00000345148.5_Silent_p.F1168F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1168	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCGAGCCTTCGAGGAGCAGG	0.612000													6	100					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903816	76903816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76903816G>A	ENST00000285871.4	+	11	1414	c.1287G>A	c.(1285-1287)atG>atA	p.M429I	CCDC146_ENST00000431197.1_Missense_Mutation_p.M143I|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	429										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TATCAGAAATGGAGTCTAAGT	0.303000													7	27					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54101586	54101586	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54101586A>T	ENST00000404125.1	-	43	5045	c.4990T>A	c.(4990-4992)Tac>Aac	p.Y1664N	PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Missense_Mutation_p.Y808N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1664					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCTGGAGGTAGGTCAGTACT	0.378000													9	77					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20141413	20141413	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:20141413G>A	ENST00000263754.4	+	4	1091	c.636G>A	c.(634-636)aaG>aaA	p.K212K	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	212					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTTTGGAAAAGAAACCCCCAT	0.323000													24	62					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118449178	118449178	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:118449178G>A	ENST00000369443.4	-	6	835	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	GDAP2_ENST00000369442.3_Missense_Mutation_p.H196Y	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	196	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTTCCCCATGAATCTCTAGG	0.289000													74	130					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35710666	35710666	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35710666G>A	ENST00000314888.9	-	33	4571	c.4218C>T	c.(4216-4218)gcC>gcT	p.A1406A	TLN1_ENST00000540444.1_Silent_p.A1406A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1406	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCAGTCATGGCCTCGCCCA	0.562000													25	45					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150642545	150642545	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150642545C>T	ENST00000392968.2	-	13	4220	c.3100G>A	c.(3100-3102)Gaa>Aaa	p.E1034K	KCNH2_ENST00000262186.5_Missense_Mutation_p.E1130K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E790K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1130					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGGGGCCTTCTTGGGGAAGC	0.677000													6	21					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80828617	80828617	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:80828617C>T	ENST00000403729.2	-	17	1958	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	ANTXR2_ENST00000404191.1_Missense_Mutation_p.R401Q|ANTXR2_ENST00000482406.1_5'UTR	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	0						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GTTTATGCACCGGCCCTGAAG	0.363000									Juvenile Hyaline Fibromatosis				35	80					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183933063	183933063	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183933063G>A	ENST00000361927.4	-	6	1295	c.924C>T	c.(922-924)aaC>aaT	p.N308N	COLGALT2_ENST00000367520.3_Silent_p.N45N|COLGALT2_ENST00000546159.1_Silent_p.N308N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CATGGATGAGGTTCTCGATGT	0.552000													29	93					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413899	101413899	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101413899A>C	ENST00000392979.3	+	8	1078	c.717A>C	c.(715-717)gaA>gaC	p.E239D	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.E274D	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	274						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAAAATATGAAGAAGGAAAAA	0.313000										HNSCC(74;0.22)			31	46					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012399	55012399	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55012399G>A	ENST00000371336.3	+	2	417	c.216G>A	c.(214-216)acG>acA	p.T72T	CASS4_ENST00000434344.1_Silent_p.T72T|CASS4_ENST00000360314.3_Silent_p.T72T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAATCCTCACGGAGGTCGCTG	0.627000													23	52					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694581	42694581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42694581C>T	ENST00000358131.5	+	6	1344	c.1136C>T	c.(1135-1137)cCg>cTg	p.P379L	TOX2_ENST00000341197.3_Missense_Mutation_p.P397L|TOX2_ENST00000423191.1_Missense_Mutation_p.P355L|TOX2_ENST00000435864.2_Missense_Mutation_p.P275L|TOX2_ENST00000372999.1_Missense_Mutation_p.P355L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	379	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTCCTTCCCGCTCAGCCCC	0.721000													20	58					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740900	71740900	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:71740900G>A	ENST00000269500.5	-	10	1436	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	FBXO15_ENST00000419743.2_Silent_p.S443S|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	367										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGCACACCGGGGAACTGAAAC	0.478000													92	189					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76507023	76507023	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76507023G>A	ENST00000264917.5	+	1	318	c.273G>A	c.(271-273)agG>agA	p.R91R	PDE8B_ENST00000346042.3_Silent_p.R91R|PDE8B_ENST00000342343.4_Silent_p.R91R|PDE8B_ENST00000333194.4_Silent_p.R91R|PDE8B_ENST00000340978.3_Silent_p.R91R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	91					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCACCAGCAGGGGCCGGAGGC	0.751000													10	11					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200878401	200878401	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200878401C>T	ENST00000367342.4	+	8	1290	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	C1orf106_ENST00000413687.2_Missense_Mutation_p.L279F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	364										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAGCCTGTGGCTTCTGGAGCC	0.637000													39	46					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120382645	120382645	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:120382645G>A	ENST00000331113.4	+	4	2421	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	486					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCACTGCCTGGAAAAAACCAC	0.473000													46	165					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359480	72359480	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:72359480G>A	ENST00000001146.2	-	6	1618	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	CYP26B1_ENST00000412253.1_Missense_Mutation_p.P281L|CYP26B1_ENST00000546307.1_Missense_Mutation_p.P397L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	472					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGATGCGGGGGAAGGTCCG	0.647000													12	28					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819517	20819517	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:20819517G>A	ENST00000328879.4	-	4	896	c.740C>T	c.(739-741)cCg>cTg	p.P247L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P104L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	247					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCCATCAGCGGAAACCGCAC	0.607000													20	42					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58855831	58855831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:58855831G>A	ENST00000414170.3	+	9	1584	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I	LIPC_ENST00000433326.2_Missense_Mutation_p.V372I|LIPC_ENST00000356113.6_Missense_Mutation_p.V433I|LIPC_ENST00000299022.5_Missense_Mutation_p.V433I			P11150	LIPC_HUMAN	lipase, hepatic	433	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTGGGACACGGTCCAGACCAT	0.532000													25	51					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566797	45566797	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:45566797C>T	ENST00000588982.1	-	3	1183	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E228K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E228K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E228K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E228K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	228						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCAGAGATTCGATGGAGAAG	0.592000													25	42					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123532	12123532	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:12123532G>A	ENST00000379388.2	+	4	3836	c.3504G>A	c.(3502-3504)acG>acA	p.T1168T		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1168					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGAATAGAACGGGGAAGTCCG	0.527000													25	83					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187521410	187521410	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187521410G>A	ENST00000441802.2	-	22	11954	c.11745C>T	c.(11743-11745)gcC>gcT	p.A3915A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3915	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACTTCCAGGGCCACTGCGT	0.512000										HNSCC(5;0.00058)			11	36					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302208	7302208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7302208G>A	ENST00000537408.1	+	13	2738	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E722K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	722					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCCCGAGCGGGAAAGCCTGCT	0.592000													7	61					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	105979899	105979899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:105979899C>T	ENST00000336660.5	-	4	476	c.356G>A	c.(355-357)gGg>gAg	p.G119E	AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.R177R|FHL2_ENST00000322142.8_Silent_p.R177R|FHL2_ENST00000409807.1_Silent_p.R177R|FHL2_ENST00000409177.1_Silent_p.R293R|FHL2_ENST00000344213.4_Silent_p.R287R|FHL2_ENST00000358129.4_Silent_p.R177R|FHL2_ENST00000393352.3_Silent_p.R177R|FHL2_ENST00000393353.3_Silent_p.R177R			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGGCTGCTCCCGGTAAGTGA	0.612000													6	21					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917858	29917858	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29917858G>A	ENST00000389048.3	-	3	1716	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	270	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)	GCTCACAGGGGAAGTCAAAGC	0.562000			"""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				10	158					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089474	86089474	+	Missense_Mutation	SNP	C	C	T	rs35593477		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:86089474C>T	ENST00000330753.4	+	2	2383	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	FLRT2_ENST00000554746.1_Missense_Mutation_p.S539F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	539					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCATGGGCTCCCCCTTTCTG	0.582000													83	156					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595394	152595394	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152595394G>A	ENST00000335674.1	-	1	185	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	62					keratinization			p.C62*(1)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAGCTCTGGCAACGGCAAC	0.652000													78	87					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658511	142658511	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142658511C>T	ENST00000355265.2	-	3	633	c.159G>A	c.(157-159)ctG>ctA	p.L53L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	53					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCCCAAAATCAGGATAGCTG	0.562000													23	66					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827292	96827292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96827292C>T	ENST00000371270.3	-	2	419	c.325G>A	c.(325-327)Gga>Aga	p.G109R	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	109					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTACCAAGTCCTTTAGTAATT	0.448000													60	115					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653220	3653220	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3653220G>A	ENST00000356518.2	-	13	1606	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	ADAM33_ENST00000379861.4_Silent_p.A455A|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.A455A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	455	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGCGCACTGGGCCCCCGGGC	0.687000													44	57					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834569	178834569	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:178834569C>T	ENST00000234816.2	-	3	790	c.343G>A	c.(343-345)Gag>Aag	p.E115K	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.E115K	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	115						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AGCTTTACCTCATTCACAATG	0.433000													73	93					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978629	247978629	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247978629C>T	ENST00000357627.1	-	1	402	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D135Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGCTCCTGTCCATGATGACA	0.517000													63	186					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696436	69696436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69696436C>T	ENST00000265403.7	+	6	1453	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R392*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	476					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAAACATCTTCGAGTTGCAGC	0.468000													104	184					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69172563	69172563	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69172563G>A	ENST00000328895.4	-	6	600	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	164						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CCTTTGCACAGCCTCCAGCAC	0.348000													55	159					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	41992732	41992732	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41992732C>T	ENST00000264451.6	+	1	244	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	22					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGCCGGCTCCGTCTGCGATG	0.706000													18	49					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581507	232581507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:232581507G>A	ENST00000366630.1	-	10	3479	c.3121C>T	c.(3121-3123)Cct>Tct	p.P1041S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1041S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P115S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1041					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCACCATAGGGATCCGGCAG	0.577000													133	164					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744478	37744478	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37744478C>T	ENST00000539465.1	+	16	3042	c.2449C>T	c.(2449-2451)Cca>Tca	p.P817S	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P817S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	817						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCCTTGTGGGCCAGATGGAAG	0.542000													71	139					0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47351729	47351729	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:47351729G>A	ENST00000378720.3	-	9	812	c.630C>T	c.(628-630)tcC>tcT	p.S210S	ESD_ENST00000378697.1_Silent_p.S181S	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	210						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	ATCCTGGATAGGATTTCACAA	0.368000													37	100					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894254	123894254	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123894254G>A	ENST00000375024.1	+	1	535	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D179N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTATTTGTGTGATGCACCGCC	0.542000													96	93					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525574	76525574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76525574C>T	ENST00000389840.5	-	22	3611	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1160K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTGGATCTCCTCTGGCATC	0.592000													37	163					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	651194	651194	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:651194A>C	ENST00000255622.6	+	10	1355	c.1312A>C	c.(1312-1314)Atg>Ctg	p.M438L	PDE6B_ENST00000429163.2_Missense_Mutation_p.M159L|PDE6B_ENST00000496514.1_Missense_Mutation_p.M438L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	438					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTACGACAAGATGAACAAGCT	0.612000													6	101					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26900873	26900873	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26900873G>A	ENST00000226253.4	-	8	1354	c.879C>T	c.(877-879)ccC>ccT	p.P293P	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Silent_p.P293P|ALDOC_ENST00000395319.3_Silent_p.P265P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	293					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCCAGGGTCGGGGAAGGGGGC	0.607000													6	220					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20570555	20570555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20570555G>A	ENST00000504154.1	+	29	3268	c.3016G>A	c.(3016-3018)Gac>Aac	p.D1006N	SLIT2_ENST00000273739.5_Missense_Mutation_p.D1010N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D998N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1002N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1006	EGF-like 3; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGAAGATAATGACTGTGAAAA	0.363000													40	81					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754278	76754278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:76754278G>A	ENST00000536229.3	+	1	2597	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	SALL3_ENST00000575389.2_Missense_Mutation_p.G763S|SALL3_ENST00000537592.2_Missense_Mutation_p.G763S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATGCACATGGGCGGCCAGAT	0.652000													15	41					0	0	1	0	0
RFNG	5986	broad.mit.edu	37	17	80006671	80006671	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80006671G>A	ENST00000310496.4	-	8	934	c.927C>T	c.(925-927)atC>atT	p.I309I	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.I183I	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	309					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAAGACAATGGATAGACTTAA	0.657000													35	146					0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885677	9885677	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9885677G>A	ENST00000327839.3	-	1	218	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	62						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CCACTGAAGGGACAATCATAT	0.433000													4	113					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371563	126371563	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126371563G>A	ENST00000394329.3	+	9	9405	c.9392G>A	c.(9391-9393)gGa>gAa	p.G3131E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1429E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3131	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTCTTCAGGAAATGAAGAA	0.398000													37	62					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480632	181480632	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:181480632C>T	ENST00000526775.1	+	3	663	c.498C>T	c.(496-498)atC>atT	p.I166I	CACNA1E_ENST00000367570.1_Silent_p.I166I|CACNA1E_ENST00000358338.5_Silent_p.I117I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.I117I|CACNA1E_ENST00000367573.2_Silent_p.I166I|CACNA1E_ENST00000360108.3_Silent_p.I166I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	166					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGACTTCATCGTGGTCCTCA	0.522000													11	276					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264000													4	90					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64383850	64383850	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:64383850A>T	ENST00000355086.3	+	3	948	c.424A>T	c.(424-426)Aag>Tag	p.K142*	SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.K142*|SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.K102*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	142					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GATGTTTAAAAAGGTACACTC	0.398000													39	114					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76804838	76804838	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76804838C>T	ENST00000278559.3	+	3	465	c.276C>T	c.(274-276)tcC>tcT	p.S92S	CAPN5_ENST00000456580.2_Silent_p.S132S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.S92S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	92	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CACTTGCCTCCCGGGAGTCGC	0.657000													12	35					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767210	23767210	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23767210C>T	ENST00000300113.2	+	3	606	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	61	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCGTGAACCCCCTGGGAGACC	0.587000													22	53					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131491	142131491	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142131491G>A	ENST00000390375.2	-	0	304																											TATAGTTAGGGAACTGGTGAC	0.537000													52	195					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192207	57192207	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57192207C>T	ENST00000343433.6	-	16	1923	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	615										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTTTTTTTTCCTTTGGTGTC	0.353000													41	90					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824634	114824634	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:114824634G>A	ENST00000315366.7	-	2	1462	c.596C>T	c.(595-597)tCc>tTc	p.S199F	ARSJ_ENST00000541197.1_Missense_Mutation_p.S199F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	199						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TCCCAAAAGGGAACCAAAAAA	0.433000													98	163					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572575	31572575	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:31572575C>T	ENST00000379416.3	-	26	2994	c.2946G>A	c.(2944-2946)aaG>aaA	p.K982K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	982					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAACCTCACTCTTCCGAGCAT	0.483000													9	232					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	77033922	77033922	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:77033922C>T	ENST00000257626.7	-	3	275	c.197G>A	c.(196-198)gGa>gAa	p.G66E	GSAP_ENST00000430584.1_Missense_Mutation_p.E17K	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GACGACATTTCCCTTATCATC	0.294000													15	43					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206738	49206738	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49206738G>A	ENST00000425340.2	+	2	642	c.525G>A	c.(523-525)cgG>cgA	p.R175R	FUT2_ENST00000391876.4_Silent_p.R175R	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	175					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACCACGTGCGGGAGGAGGCCC	0.652000													4	101					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221166	161221166	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:161221166G>A	ENST00000327928.4	+	4	870	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	290	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTGATCCAGGGATTAAAGGAG	0.557000													10	19					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619631	619631	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:619631G>A	ENST00000255622.6	+	1	259	c.216G>A	c.(214-216)atG>atA	p.M72I	PDE6B_ENST00000496514.1_Missense_Mutation_p.M72I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	72	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCATCAACATGGAGCGCGTGG	0.682000													15	30					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31314324	31314324	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31314324G>A	ENST00000269197.5	+	10	1027	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K342_E343>N*(1)|p.K49_E50>N*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTGAGAAGGAAAAGAAAAC	0.328000													11	31					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868450	97868450	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97868450C>T	ENST00000437310.1	+	1	281	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTTTGTTATCATCCTCAGTG	0.398000													120	262					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588929	113588929	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113588929C>T	ENST00000263341.2	-	6	747	c.537G>A	c.(535-537)aaG>aaA	p.K179K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	179					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GATTCTTTTCCTTGAGGCCCA	0.468000													55	105					0	0	1	0	0
IGLV1-51	28820	broad.mit.edu	37	22	22676848	22676848	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22676848C>T	ENST00000390290.2	+	0	21				LL22NC03-80A10.6_ENST00000426066.1_RNA																							AGGCAGGACTCGGGACAATCT	0.572000													5	5					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099182	169099182	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:169099182G>A	ENST00000494292.1	-	2	265	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	56							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTTTGGAGTGAATGCTTCAC	0.488000													5	70					0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010202	10010202	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10010202G>A	ENST00000228438.2	-	3	1041	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	36						integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TCCAATCATAGGGGCATAAAC	0.338000													27	45					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840893	142840893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142840893C>T	ENST00000309575.3	+	2	2619	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	412					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCTGCAGCCCCCTGACTGG	0.617000													5	112					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996812	98996812	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98996812G>A	ENST00000393504.1	+	4	807	c.390G>A	c.(388-390)ggG>ggA	p.G130G	CNGA3_ENST00000409937.1_Silent_p.G134G|CNGA3_ENST00000436404.2_Silent_p.G130G|CNGA3_ENST00000272602.2_Silent_p.G130G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	130					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGACAGAGGGAGAAGGTAAG	0.572000													9	40					0	0	1	0	0
POU3F1	5453	broad.mit.edu	37	1	38511413	38511413	+	Missense_Mutation	SNP	C	C	T	rs141969937		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:38511413C>T	ENST00000373012.2	-	1	1037	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	335					positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGCCCTGCGCCGCGATCTTG	0.637000													12	33					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654819	31654819	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31654819G>A	ENST00000340345.4	-	1	457	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	144						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CGTTGCGGAGGGTTTGGCAGG	0.498000													45	134					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80012379	80012379	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80012379C>T	ENST00000306823.6	+	4	337	c.314C>T	c.(313-315)tCt>tTt	p.S105F	GPS1_ENST00000355130.2_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000392358.2_Intron			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	105					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCAGGTCCTCTCTCAGGGAG	0.701000													6	17					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123514403C>T	ENST00000422452.2	-	32	8245	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGCCTATTTCGCTCTGTCTC	0.373000													4	61					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174776	63174776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:63174776C>T	ENST00000322893.7	-	11	2685	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	806					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)		TTTTCCATTTCCATTCTTCAT	0.458000													66	101					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011216	30011216	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:30011216G>A	ENST00000346128.6	-	21	3604	c.3130C>T	c.(3130-3132)Cca>Tca	p.P1044S	TJP1_ENST00000400011.2_Missense_Mutation_p.P968S|TJP1_ENST00000356107.6_Missense_Mutation_p.P1044S|TJP1_ENST00000545208.2_Missense_Mutation_p.P964S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1044					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTACGTATGGGAGTTGGGGT	0.498000													110	220					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31604572	31604572	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:31604572G>A	ENST00000379416.3	-	12	1107	c.1059C>T	c.(1057-1059)atC>atT	p.I353I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	353	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCTGGCAGTGATGATGTTCC	0.587000													18	35					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840298	44840298	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44840298G>A	ENST00000270162.6	-	8	920	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	263	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCGCCTGGCGGGGTCCACCAC	0.726000													19	32					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175885	63175885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:63175885G>A	ENST00000263991.5	+	14	2491	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E	EHBP1_ENST00000354487.3_Missense_Mutation_p.G635E|EHBP1_ENST00000431489.1_Missense_Mutation_p.G635E|EHBP1_ENST00000405289.1_Missense_Mutation_p.G635E|EHBP1_ENST00000405015.3_Missense_Mutation_p.G635E	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	670						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GATGACCCTGGAATATGTTCC	0.443000													20	42					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369871	123369871	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:123369871G>A	ENST00000275162.4	+	4	2004	c.669G>A	c.(667-669)cgG>cgA	p.R223R	CLVS2_ENST00000368438.1_Silent_p.R77R	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGAAAACTCGGAAAAGGGTAT	0.378000													42	71					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65170938	65170938	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:65170938C>T	ENST00000381210.3	-	7	786	c.676G>A	c.(676-678)Gga>Aga	p.G226R	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.G226R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	226					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAAGTAAATCCCCAGTAAAAG	0.313000													38	108					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41263905	41263905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41263905G>A	ENST00000284440.4	+	6	568	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	UCHL1_ENST00000508768.1_Intron|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Missense_Mutation_p.A142T|UCHL1_ENST00000512788.1_Missense_Mutation_p.A142T	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	142					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CATACAGGCAGCCCATGATGC	0.443000													23	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534447	92534447	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92534447C>T	ENST00000298047.6	+	9	8285	c.8268C>T	c.(8266-8268)ttC>ttT	p.F2756F	FAT3_ENST00000409404.2_Silent_p.F2756F|FAT3_ENST00000525166.1_Silent_p.F2606F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2756	Cadherin 25.				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)				GGGGCATATTCGTCATAGAAC	0.483000										TCGA Ovarian(4;0.039)			5	58					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498000													31	69					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160276980	160276980	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160276980C>T	ENST00000241704.7	-	14	1504	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	COPA_ENST00000368069.3_Silent_p.R425R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	425					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCAAACCGATTTCGAG	0.493000													86	288					0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7755301	7755301	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7755301C>T	ENST00000346664.5	-	9	824	c.612G>A	c.(610-612)ccG>ccA	p.P204P	FCER2_ENST00000597921.1_Silent_p.P204P|FCER2_ENST00000360067.4_Silent_p.P203P	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	204	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCTGCTCCTCCGGGCTGTGGA	0.652000													42	95					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359110	26359110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26359110G>A	ENST00000265944.5	+	13	1407	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	MYO3A_ENST00000543632.1_Missense_Mutation_p.G414E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	414	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCTGACTTAGGATATCAATCT	0.328000													27	54					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580956	40580956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40580956G>A	ENST00000450241.2	-	6	1602	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.R465*|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.R466*|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.R466*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.R465*			O75290	Z780A_HUMAN	zinc finger protein 780A	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTATGAATTCGAGAATGTTCA	0.403000													69	168					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354296	40354296	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40354296C>T	ENST00000221347.6	-	35	16180	c.16173G>A	c.(16171-16173)gcG>gcA	p.A5391A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5391	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)			ATTTCTCCATCGCTGGCTTCT	0.542000													22	48					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582301	82582301	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82582301G>A	ENST00000423517.2	-	5	8305	c.7968C>T	c.(7966-7968)ccC>ccT	p.P2656P	PCLO_ENST00000333891.8_Silent_p.P2656P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2587					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						GAAATGAAGAGGGTGCTGTGA	0.448000													41	114					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35842220	35842220	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35842220C>T	ENST00000237530.6	+	9	1355	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RPN2_ENST00000373622.5_Silent_p.F316F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	348					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ATTATGACTTCCTTGTCGAAG	0.383000													32	75					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115375576	115375576	+	Splice_Site	SNP	C	C	T	rs111391425		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115375576C>T	ENST00000369358.4	-	27	3242		c.e27-1		NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein							fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTATAATCTCTGTGGATGGA	0.498000													9	25					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253517	65253517	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65253517A>G	ENST00000389722.3	-	15	3219	c.3166T>C	c.(3166-3168)Ttg>Ctg	p.L1056L	SPTB_ENST00000556626.1_Silent_p.L1056L|SPTB_ENST00000389720.3_Silent_p.L1056L|SPTB_ENST00000389721.5_Silent_p.L1056L|SPTB_ENST00000542895.1_Silent_p.L1056L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1056					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCCCCAGCAAGTCCTCCTGG	0.607000													47	72					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601746	58601746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58601746C>T	ENST00000600404.1	-	2	86	c.57G>A	c.(55-57)tgG>tgA	p.W19*	ZSCAN18_ENST00000240727.6_5'UTR|ZSCAN18_ENST00000601144.1_5'UTR|ZSCAN18_ENST00000421612.2_Intron	NM_001145542.1	NP_001139014.1	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTGCCAGAACCCACAGACCTG	0.597000													6	10					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462821	21462821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:21462821C>T	ENST00000281523.2	-	8	1591	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus	nucleic acid binding|zinc ion binding	p.R358Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGAGCAGTTCGAAGACTGAA	0.587000													24	26					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111594944	111594944	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:111594944G>A	ENST00000261486.5	-	9	1053	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	259	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCAGTACTCTGAGTTCAAATT	0.373000													49	102					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799223	5799223	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5799223C>T	ENST00000317093.2	-	1	674	c.642G>A	c.(640-642)ctG>ctA	p.L214L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACTCCAATCAGGAGAGCAA	0.428000													26	33					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582179	82582179	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82582179G>T	ENST00000423517.2	-	5	8427	c.8090C>A	c.(8089-8091)aCa>aAa	p.T2697K	PCLO_ENST00000333891.8_Missense_Mutation_p.T2697K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2628					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						TGGAGGAATTGTTATGGAAAT	0.398000													37	64					2.47316e-13	2.49199e-13	1	1	0
GRIK1	2897	broad.mit.edu	37	21	31062264	31062264	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31062264G>A	ENST00000399914.1	-	3	849	c.328C>T	c.(328-330)Cct>Tct	p.P110S	GRIK1_ENST00000309434.7_Missense_Mutation_p.P110S|GRIK1_ENST00000327783.4_Missense_Mutation_p.P110S|GRIK1_ENST00000399909.1_Missense_Mutation_p.P110S|GRIK1_ENST00000389124.2_Missense_Mutation_p.P110S|GRIK1_ENST00000389125.3_Missense_Mutation_p.P110S|GRIK1_ENST00000535441.1_Missense_Mutation_p.P110S|GRIK1_ENST00000399913.1_Missense_Mutation_p.P110S|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.P110S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	110					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTATGGGAAGGGCCAAAGAGA	0.562000													56	76					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274145	74274145	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74274145C>T	ENST00000409262.3	+	1	696	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	232							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCTCTCCTCTGCCCTCC	0.597000													34	64					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85457778	85457778	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:85457778G>C	ENST00000369663.5	-	5	1136	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.Q109E	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	267					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACTCGCGGTTGGTATTTGTGC	0.433000													5	77					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76630152	76630152	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76630152G>A	ENST00000290759.4	+	2	252	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	31	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GTGGGCTGCGGGAGTCAGATC	0.706000													15	21					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242419	3242419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3242419G>A	ENST00000217939.6	-	5	1461	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	436						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)				GATATCTATGGATGGCTGCAT	0.483000													135	26					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700038	136700038	+	Missense_Mutation	SNP	G	G	A	rs142493466		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:136700038G>A	ENST00000445907.2	+	3	954	c.426G>A	c.(424-426)atG>atA	p.M142I	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M142I|CHRM2_ENST00000453373.1_Missense_Mutation_p.M142I|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M142I|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.M142I|CHRM2_ENST00000401861.1_Missense_Mutation_p.M142I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	142					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGGCAGGTATGATGATTGCAG	0.502000													41	157					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141539241	141539241	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141539241C>T	ENST00000350549.3	-	2	444	c.73G>A	c.(73-75)Gac>Aac	p.D25N	PRSS37_ENST00000438520.1_Missense_Mutation_p.D25N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	25	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GGAGCAGGGTCTTCTTTCTGA	0.418000													21	52					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387302	61387302	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61387302C>T	ENST00000544088.1	+	0	593				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTGTAATGGTCCTGGTGAATG	0.323000													32	79					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633952	70633952	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70633952G>A	ENST00000381269.2	-	2	1941	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SLC8A3_ENST00000357887.3_Silent_p.S396S|SLC8A3_ENST00000356921.2_Silent_p.S396S|SLC8A3_ENST00000528359.1_Silent_p.S396S|SLC8A3_ENST00000534137.1_Silent_p.S396S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	396	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGAAGACCTTGGAAATAAAGT	0.517000													11	156					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100934588	100934588	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100934588G>A	ENST00000548884.1	+	9	1599	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	NR1H4_ENST00000392986.3_Missense_Mutation_p.R357Q|NR1H4_ENST00000549996.1_Missense_Mutation_p.R306Q|NR1H4_ENST00000188403.7_Missense_Mutation_p.R363Q|NR1H4_ENST00000551379.1_Missense_Mutation_p.R367Q	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	367	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R353Q(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAAAGAATTCGAAATAGTGGT	0.413000													22	86					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785196	90785196	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90785196G>A	ENST00000558017.1	+	4	1476	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	GDPGP1_ENST00000329600.6_Silent_p.E352E	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	352					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCCTGACAGAGGCAGCTGCTG	0.582000													48	71					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236900488	236900488	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:236900488G>A	ENST00000366578.4	+	9	1016	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E284K|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	284					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGGCTGATGGAAGAATATGA	0.488000													20	46					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11977098	11977098	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11977098C>T	ENST00000304030.2	+	1	327	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGAAGAATCTCTACAGGGA	0.448000													66	167					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41862843	41862843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:41862843G>A	ENST00000263798.3	+	12	1749	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	TYRO3_ENST00000559066.1_Missense_Mutation_p.E464K	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	509						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGAAAAACTGGAGGATGTGCT	0.547000													11	137					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873073	36873073	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36873073C>T	ENST00000325718.7	+	10	1581	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	497					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCTGCCCCATCCTTGCCCAGT	0.662000			T	MLL	AL								8	26					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922442	184922442	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184922442G>A	ENST00000231887.3	-	6	747	c.672C>T	c.(670-672)caC>caT	p.H224H	EHHADH_ENST00000456310.1_Silent_p.H128H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	224	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GACACCCAGGGTGCTGCCTCC	0.527000													74	113					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413900	101413900	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101413900G>A	ENST00000392979.3	+	8	1079	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.E275K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	275						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAATATGAAGAAGGAAAAAA	0.313000										HNSCC(74;0.22)			30	44					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26100212	26100212	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26100212C>T	ENST00000313735.6	-	13	1767	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	512	Calmodulin-binding (Potential).				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AATGGAATCTCTCTTCTCTTG	0.527000													5	393					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26967641	26967641	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:26967641C>T	ENST00000381527.3	+	7	1287	c.784C>T	c.(784-786)Cct>Tct	p.P262S	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	262	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AATGGGATTTCCTGCAGGTAC	0.353000													82	140					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112061	76112061	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76112061T>A	ENST00000324432.5	+	5	1015	c.505T>A	c.(505-507)Tgc>Agc	p.C169S	DTX2_ENST00000446600.1_Missense_Mutation_p.C78S|DTX2_ENST00000446820.2_Missense_Mutation_p.C169S|DTX2_ENST00000430490.2_Missense_Mutation_p.C169S|DTX2_ENST00000307569.8_Missense_Mutation_p.C169S|DTX2_ENST00000413936.2_Missense_Mutation_p.C169S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	169	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTCCAGCTTCTGCCGCAGCGT	0.657000													15	118					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142240017	142240017	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142240017G>A	ENST00000390363.2	-	0	41																											CCCATGGCAGGATCTCCTAGC	0.517000													57	134					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037767	105037767	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105037767G>A	ENST00000369849.4	+	1	848	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	267	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGCTCTGAGGGAGATCCGCGC	0.647000													6	20					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968337	38968337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38968337G>A	ENST00000302328.3	-	4	772	c.574C>T	c.(574-576)Cga>Tga	p.R192*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.R192*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.R192*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.R192*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	192					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)	CATGGATCTCGAAGGAAAGAA	0.378000													21	159					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33414539	33414539	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33414539C>T	ENST00000418600.2	+	17	3871	c.3770C>T	c.(3769-3771)tCc>tTc	p.S1257F	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S1257F|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S1198F	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1257					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGAAGGATTCCCAGATCAAG	0.582000													21	62					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72025788	72025788	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72025788G>A	ENST00000378743.3	-	15	3682	c.3324C>T	c.(3322-3324)acC>acT	p.T1108T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1108					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCCTGTGGTGGTTTTTAAAA	0.343000													26	70					0	0	1	0	0
B9D1	27077	broad.mit.edu	37	17	19246737	19246737	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19246737G>A	ENST00000261499.4	-	7	653	c.510C>T	c.(508-510)ctC>ctT	p.L170L	B9D1_ENST00000477478.2_3'UTR|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395615.1_3'UTR|B9D1_ENST00000461069.2_Intron	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	170					cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCACGTTGAAGAGGAGGGTGA	0.607000													4	72					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510713	26510713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26510713C>T	ENST00000531191.1	+	10	1168	c.161C>T	c.(160-162)tCt>tTt	p.S54F	CNKSR1_ENST00000361530.6_Missense_Mutation_p.S312F|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S319F			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	319	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCCCATCTGAAGACGTC	0.622000													72	198					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112462035	112462035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112462035C>T	ENST00000230538.7	-	22	3300	c.2903G>A	c.(2902-2904)gGa>gAa	p.G968E	LAMA4_ENST00000389463.4_Missense_Mutation_p.G961E|LAMA4_ENST00000424408.2_Missense_Mutation_p.G961E|LAMA4_ENST00000522006.1_Missense_Mutation_p.G961E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	968	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAGTCATCTCCCGAAAATTC	0.448000													69	31					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887825	97887825	+	Silent	SNP	C	C	T	rs144053171	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97887825C>T	ENST00000356526.2	+	1	282	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGATATCTCTCTCTGAATGCA	0.388000													57	171					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37332621	37332621	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37332621A>C	ENST00000262825.5	+	13	1730	c.1513A>C	c.(1513-1515)Agc>Cgc	p.S505R	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S505R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S499R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S446R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	499					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCAGGCAGCATGTCGGC	0.662000													15	70					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584797	72584797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72584797G>A	ENST00000375352.1	-	2	312	c.232C>T	c.(232-234)Cga>Tga	p.R78*	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	78	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ATGGAAACTCGATTCTTCTTT	0.448000													69	246					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52219632	52219632	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52219632C>T	ENST00000540069.2	-	4	995	c.935G>A	c.(934-936)aGg>aAg	p.R312K	HAS1_ENST00000601714.1_Missense_Mutation_p.R320K|HAS1_ENST00000222115.1_Missense_Mutation_p.R313K|HAS1_ENST00000594621.1_Intron			Q92839	HAS1_HUMAN	hyaluronan synthase 1	313					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAGGTTATTCCTATATAGGCC	0.542000													24	39					0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36359613	36359613	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36359613A>C	ENST00000454782.2	-	5	822	c.339T>G	c.(337-339)ttT>ttG	p.F113L	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	30						peroxisome											AAAAGAAGACAAAATGATCTA	0.338000													55	144					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829621	24829621	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24829621C>T	ENST00000337539.7	+	2	708	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	83					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TTGCCTGCTTCGTCCTGGTCC	0.642000													48	98					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988644	137988644	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:137988644T>A	ENST00000409968.1	+	8	1932	c.1754T>A	c.(1753-1755)gTt>gAt	p.V585D	THSD7B_ENST00000272643.3_Missense_Mutation_p.V585D|THSD7B_ENST00000413152.2_Missense_Mutation_p.V554D|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		CTTTGCCCAGTTCCCCCTCCT	0.478000													4	58					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563472	8563472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8563472C>T	ENST00000423345.4	-	2	1740	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N	PRAM1_ENST00000255612.3_Missense_Mutation_p.S407N			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	455	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AAACCCAGGGCTGAGCGGGTG	0.692000													15	29					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532662	71532662	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:71532662G>A	ENST00000265382.3	+	9	1275	c.970G>A	c.(970-972)Gag>Aag	p.E324K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E324K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	324	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GATAATCACAGAGAACCCAGA	0.517000													38	69					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856264	54856264	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54856264G>A	ENST00000333896.5	+	13	2339	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D665N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	665					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTCCTCGGACGATTACGGGAA	0.612000													36	86					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154251339	154251339	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:154251339C>T	ENST00000517876.1	+	6	999	c.523C>T	c.(523-525)Cca>Tca	p.P175S	CNOT8_ENST00000519404.1_Missense_Mutation_p.P121S|CNOT8_ENST00000403027.2_Missense_Mutation_p.P175S|CNOT8_ENST00000285896.6_Missense_Mutation_p.P175S|CNOT8_ENST00000521450.1_Missense_Mutation_p.P69S|CNOT8_ENST00000520671.1_Missense_Mutation_p.P69S|CNOT8_ENST00000523698.1_Missense_Mutation_p.P69S|CNOT8_ENST00000524105.1_Missense_Mutation_p.P11S|CNOT8_ENST00000521583.1_Missense_Mutation_p.P69S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	175					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTCGTTTGCCAGAAGAGGA	0.373000													45	71					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79711730	79711730	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:79711730A>G	ENST00000275034.4	-	17	1932	c.1765T>C	c.(1765-1767)Ttt>Ctt	p.F589L		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	589					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCAACCAAAAAAGGGGGAGGC	0.433000													24	62					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011659	32011659	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32011659C>T	ENST00000375244.3	-	35	11598	c.11397G>A	c.(11395-11397)caG>caA	p.Q3799Q	TNXB_ENST00000375247.2_Silent_p.Q3797Q|TNXB_ENST00000451343.1_Silent_p.Q228Q			P22105	TENX_HUMAN	tenascin XB	3844					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						CCTGCACACTCTGAGGCTCCC	0.647000													99	117					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740594	141740594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141740594C>T	ENST00000475668.2	+	21	2500	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R816*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	816	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTCACCTTCGAGGAGGCTA	0.468000													21	62					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110895916	110895916	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110895916G>A	ENST00000265171.5	+	12	2227	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	EGF_ENST00000509793.1_Silent_p.K552K|EGF_ENST00000503392.1_Silent_p.K594K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	594					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAATCACTAAGGAGAACATCT	0.378000													34	65					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563848	75563848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:75563848C>T	ENST00000336257.3	-	3	1829	c.435G>A	c.(433-435)tgG>tgA	p.W145*	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Nonsense_Mutation_p.W151*	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	145					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCTCGTTGCCCAGTTGAAAA	0.617000													76	54					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601201	138601201	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:138601201G>A	ENST00000251691.4	+	14	2527	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	787	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGGATTGAGGAGCTCTACC	0.542000													4	78					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41243940	41243940	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41243940G>A	ENST00000244709.4	-	4	691	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	TREM1_ENST00000334475.6_Silent_p.S145S|TREM1_ENST00000589614.1_Intron	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	210					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CCACCAGCCAGGAGAATGACA	0.532000													21	65					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509722	228509722	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228509722C>T	ENST00000570156.2	+	66	18125	c.18051C>T	c.(18049-18051)atC>atT	p.I6017I	OBSCN_ENST00000284548.11_Silent_p.I5060I|OBSCN_ENST00000366707.4_Silent_p.I2694I|OBSCN_ENST00000422127.1_Silent_p.I5060I|OBSCN_ENST00000366709.4_Silent_p.I2179I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5060	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCATCTGCATCCGTTTTGAGG	0.597000													15	14					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919354	51919354	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51919354G>A	ENST00000353836.5	-	5	1043	c.822C>T	c.(820-822)ctC>ctT	p.L274L	SIGLEC10_ENST00000432469.2_Silent_p.L191L|SIGLEC10_ENST00000439889.2_Silent_p.L216L|SIGLEC10_ENST00000339313.5_Silent_p.L274L|SIGLEC10_ENST00000441969.3_Silent_p.L216L|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.L274L|SIGLEC10_ENST00000436984.2_Silent_p.L226L|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000532688.1_RNA	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	274	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGCACAGAGGAGCCGCAGGA	0.607000													9	22					0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804085	71804085	+	Silent	SNP	C	C	T	rs149967896		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:71804085C>T	ENST00000304411.2	+	1	885	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCTTCCTGCTCCTCTGGGGGC	0.697000													25	50					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713684	50713684	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50713684C>T	ENST00000440075.2	+	2	109	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MYH14_ENST00000596571.1_Missense_Mutation_p.P21L|MYH14_ENST00000262269.8_Missense_Mutation_p.P21L|MYH14_ENST00000598205.1_Missense_Mutation_p.P21L|MYH14_ENST00000601313.1_Missense_Mutation_p.P21L|MYH14_ENST00000376970.2_Missense_Mutation_p.P21L|MYH14_ENST00000425460.1_Missense_Mutation_p.P21L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	21	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCAGTGCCCGAGGCGGCC	0.756000													7	9					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139308588	139308588	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:139308588C>T	ENST00000280098.4	+	4	695	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	106	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAAATTTTCCCTTCTGAATGC	0.353000													30	83					0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65449311	65449311	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:65449311C>T	ENST00000334121.6	+	2	341	c.182C>T	c.(181-183)tCc>tTc	p.S61F	SREK1_ENST00000380918.3_5'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	0					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						CTTGCTTTTTCCTCCAAAGTA	0.343000													16	257					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389864	48389864	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48389864C>G	ENST00000224600.4	-	1	1127	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	338	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTAGTAGTCCTTCAGGACCT	0.642000													4	75					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:75866132G>A	ENST00000322507.8	-	15	3400	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031C|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATGAGGGCGATAGACAACA	0.473000													5	96					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912230	53912230	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53912230C>T	ENST00000396408.3	+	4	1539	c.1422C>T	c.(1420-1422)acC>acT	p.T474T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTGGCAAGACCTTCAGCCGGA	0.373000													39	93					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502394	90502394	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90502394G>A	ENST00000325643.5	+	4	3058	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGCTGGGAACGAGGCATGGCT	0.582000													30	61					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46828800	46828800	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46828800C>T	ENST00000339613.2	+	11	1431	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	HIF3A_ENST00000600383.1_Silent_p.L379L|HIF3A_ENST00000300862.3_Silent_p.L446L|HIF3A_ENST00000472815.1_Silent_p.L379L|HIF3A_ENST00000420102.2_Silent_p.L397L|HIF3A_ENST00000377670.4_Silent_p.L448L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.L379L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCTGATCTCCCAGATGAAC	0.493000													13	231					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90077798	90077798	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90077798C>T	ENST00000390270.2	+	0	119																											AGCGCAGCTTCTCTTCCTCCT	0.562000													63	106					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85623542	85623542	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:85623542G>A	ENST00000322366.6	-	55	8916	c.8509C>T	c.(8509-8511)Cca>Tca	p.P2837S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P2854S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2854	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGAATTCTGGTAAATAAAAG	0.423000													33	99					0	0	1	0	0
RWDD2A	112611	broad.mit.edu	37	6	83905712	83905712	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:83905712C>T	ENST00000369724.4	+	3	805	c.600C>T	c.(598-600)ttC>ttT	p.F200F	RWDD2A_ENST00000539997.1_Silent_p.F146F	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	200										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		TGGAGGGTTTCAAAGAGCACT	0.448000													76	30					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734527	16734527	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:16734527G>A	ENST00000433922.2	+	8	898	c.720G>A	c.(718-720)aaG>aaA	p.K240K	BZW2_ENST00000258761.3_Silent_p.K240K|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.K46K|BZW2_ENST00000405202.1_Silent_p.K164K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	240					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CAGGTCTTAAGGAGCTTTCCG	0.483000													4	94					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937679	116937679	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:116937679C>T	ENST00000265441.3	-	4	1139	c.840G>A	c.(838-840)agG>agA	p.R280R		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	280					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCTCGGTCCCTGATACAGT	0.398000													51	184					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509688	71509688	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71509688C>T	ENST00000396073.3	+	9	2826	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	849					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTCATCTTTCCCTAACTTCAT	0.438000													39	66					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603821	52603821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52603821C>T	ENST00000395489.2	-	6	536	c.140G>A	c.(139-141)aGg>aAg	p.R47K	A1CF_ENST00000373993.1_Missense_Mutation_p.R54K|A1CF_ENST00000395495.1_Missense_Mutation_p.R54K|A1CF_ENST00000374001.1_Missense_Mutation_p.R54K|A1CF_ENST00000373995.3_Missense_Mutation_p.R62K|A1CF_ENST00000373997.3_Missense_Mutation_p.R54K|A1CF_ENST00000282641.2_Missense_Mutation_p.R54K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	54					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACAGCCCCTTTCAGGGGG	0.423000													68	86					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55439017	55439017	+	Silent	SNP	G	G	A	rs148164395	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55439017G>A	ENST00000446217.1	-	12	3423	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	NLRP7_ENST00000448121.2_Silent_p.L951L|NLRP7_ENST00000328092.5_Silent_p.L951L|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000588756.1_Silent_p.L979L|NLRP7_ENST00000592784.1_Silent_p.L979L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAACCCCAAAGAGCTTAATTA	0.388000													54	165					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085057	9085057	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9085057G>A	ENST00000397910.4	-	1	6961	c.6758C>T	c.(6757-6759)tCc>tTc	p.S2253F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2253	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2253F(2)		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						AGGGGAGGGGGAAAAGGAGAC	0.458000													14	27					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172634133	172634133	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172634133C>T	ENST00000351008.3	-	9	1660	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	493					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGACTGATGTCCTGTAGGTAG	0.463000													94	183					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142434008	142434008	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:142434008C>T	ENST00000378004.3	+	15	1645	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	ARHGAP26_ENST00000274498.4_Silent_p.P430P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	430	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTAGACCCCAAGACTGCTT	0.383000													67	260					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434031	434031	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:434031G>A	ENST00000316418.5	+	12	1286	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	AHRR_ENST00000512529.1_Silent_p.E242E|AHRR_ENST00000506456.1_Silent_p.E252E|AHRR_ENST00000505113.1_Silent_p.E396E	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGCGGAGGGAGACTCCAGGAC	0.647000													16	42					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512109	248512109	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248512109C>T	ENST00000317861.1	+	1	33	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGGAATTTCTCCTCATGAGGT	0.413000													64	42					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1028300	1028300	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:1028300G>A	ENST00000308919.7	+	9	1328	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	CYP2W1_ENST00000340150.6_3'UTR	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	439					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGAGCGCCTGGCCAGGACCGA	0.726000													34	48					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48544004	48544004	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48544004C>T	ENST00000376701.4	+	3	417	c.342C>T	c.(340-342)ttC>ttT	p.F114F	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	114	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCCCTTCTTCCACACCTTCG	0.622000			"""Mis, N, F, S"""			lymphoma							10	2					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11837356	11837356	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11837356C>T	ENST00000262442.3	+	65	12525	c.12457C>T	c.(12457-12459)Cca>Tca	p.P4153S	DNAH9_ENST00000396001.2_Missense_Mutation_p.P465S|DNAH9_ENST00000454412.2_Missense_Mutation_p.P4077S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4153					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4153T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCCCACTCCCAGGCAACAT	0.532000													36	69					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784556	9784556	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:9784556C>T	ENST00000304374.2	+	1	1299	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	301					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)	TGTCGGTGATCATGGGGGTCT	0.632000													29	117					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87035663	87035663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87035663C>T	ENST00000265723.4	-	26	3559	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E1096K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1143K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1143K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1096K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1150	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTCACAATTTCATCCTGTGAT	0.453000													80	268					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390884	62390884	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:62390884G>A	ENST00000281156.4	-	9	1312	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCTACCATAGGGGTGTTCCCT	0.488000													18	42					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230741	104230741	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:104230741T>A	ENST00000238936.4	+	5	808	c.571T>A	c.(571-573)Tcc>Acc	p.S191T	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	191						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGATTTCTCCTCCTTCCGCGC	0.617000													8	224					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													75	83					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681802	189681802	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189681802C>T	ENST00000319332.5	-	14	2176	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACACCTCTTTCCCTTGGTGAC	0.498000													45	82					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129741	1129741	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1129741C>T	ENST00000293897.4	+	1	961	c.873C>T	c.(871-873)atC>atT	p.I291I	SSTR5_ENST00000397547.2_Silent_p.I291I|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	291					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TCGTGGTCATCCTCTCCTACG	0.627000													23	58					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256749	7256749	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7256749C>T	ENST00000333751.3	+	1	1542	c.488C>T	c.(487-489)cCc>cTc	p.P163L	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	163					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GCCCCCCGCCCCGTGGAACTC	0.667000													27	68					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099516	50099516	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50099516C>T	ENST00000418929.2	+	4	1936	c.1924C>T	c.(1924-1926)Ctt>Ttt	p.L642F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	400	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGAGGAGTTCCTTATCCAGCA	0.682000													12	26					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963932	88963932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88963932G>A	ENST00000333190.4	+	4	2245	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	546						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCGGATTGGGAAAAATTCCA	0.348000										HNSCC(36;0.09)			30	79					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131826338	131826338	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131826338G>A	ENST00000286355.5	-	14	4982	c.2890C>T	c.(2890-2892)Cta>Tta	p.L964L	ADCY8_ENST00000377928.3_Silent_p.L833L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	964					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)			TCCTTCTCTAGGAAATGGCGG	0.517000										HNSCC(32;0.087)			43	77					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833581	168833581	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:168833581G>A	ENST00000464456.1	-	7	2715	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	MECOM_ENST00000433243.2_Silent_p.S506S|MECOM_ENST00000460814.1_Silent_p.S505S|MECOM_ENST00000494292.1_Silent_p.S693S|MECOM_ENST00000392736.3_Silent_p.S505S|MECOM_ENST00000264674.3_Silent_p.S570S|MECOM_ENST00000472280.1_Silent_p.S506S|MECOM_ENST00000468789.1_Silent_p.S505S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGGAAACATGGAAGGGTAAG	0.408000													34	72					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170148851	170148851	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170148851G>A	ENST00000263816.3	-	7	966	c.681C>T	c.(679-681)ttC>ttT	p.F227F	LRP2_ENST00000443831.1_Silent_p.F227F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	227	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGGGCAAGTGAACTGGTAAC	0.468000													26	51					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18327706	18327706	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:18327706C>T	ENST00000355502.3	-	16	2202		c.e16-1		PDE4C_ENST00000539010.1_Splice_Site|PDE4C_ENST00000262805.11_Splice_Site|PDE4C_ENST00000594465.2_Splice_Site|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Splice_Site|PDE4C_ENST00000594617.2_Splice_Site			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGCTCTGAGTCTGTGAGGGTA	0.552000													40	67					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508823	37508823	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:37508823G>A	ENST00000374660.1	+	40	4471	c.4372G>A	c.(4372-4374)Gaa>Aaa	p.E1458K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1339K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1339K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAGAAACAGAAGTAAGTAT	0.274000													5	8					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034732	107034732	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107034732C>T	ENST00000390626.2	-	0	406																											CTGTGTGTCTCGCACAGTAAT	0.597000													6	202					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845699	176845699	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176845699G>A	ENST00000367654.2	-	21	3474	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	ASTN1_ENST00000367657.3_Missense_Mutation_p.P1146L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1146L|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1146L			O14525	ASTN1_HUMAN	astrotactin 1	1154					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						ATCCACCACGGGGCATGGGGT	0.577000													40	67					0	0	1	0	0
LSM7	51690	broad.mit.edu	37	19	2321787	2321787	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2321787G>A	ENST00000252622.9	-	4	253	c.204C>T	c.(202-204)acC>acT	p.T68T	LSM7_ENST00000589532.1_5'UTR	NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	68					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTGCCGGGTGTCCTCCG	0.667000													5	9					0	0	1	0	0
COPZ1	22818	broad.mit.edu	37	12	54734323	54734323	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54734323C>T	ENST00000549043.1	+	2	130	c.35C>T	c.(34-36)tCt>tTt	p.S12F	COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000548753.1_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000553231.1_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000551779.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA			P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	0					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						ATGTTCGTATCTCTTCAGGAA	0.483000													8	141					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816969	98816969	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98816969G>A	ENST00000266058.4	-	12	1400	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L385L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	385					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCTTACAGGAGCTGTAGGG	0.562000													18	52					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143056094	143056094	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143056094G>A	ENST00000409408.1	-	4	1916	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	FAM131B_ENST00000409346.1_Missense_Mutation_p.H70Y|FAM131B_ENST00000409222.3_Missense_Mutation_p.H70Y|FAM131B_ENST00000409578.1_Missense_Mutation_p.H86Y|FAM131B_ENST00000443739.2_Missense_Mutation_p.H98Y			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	70										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TTTGTCACATGGTCCTTCATG	0.572000													23	50					0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79618162	79618162	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79618162G>A	ENST00000573076.1	-	4	831	c.356C>T	c.(355-357)cCt>cTt	p.P119L	PDE6G_ENST00000574777.1_5'UTR|PDE6G_ENST00000571224.1_Missense_Mutation_p.P69L|PDE6G_ENST00000571004.1_Missense_Mutation_p.P69L|PDE6G_ENST00000331056.5_Missense_Mutation_p.P69L			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	69					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCCTCCCAAGGGCAGATGAC	0.627000													25	82					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705867	35705867	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35705867C>T	ENST00000373866.3	+	2	249	c.227C>T	c.(226-228)tCt>tTt	p.S76F	ARMC12_ENST00000288065.2_Missense_Mutation_p.S103F|ARMC12_ENST00000373869.3_Missense_Mutation_p.S76F			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	76							binding										CTCCTCAACTCTTTGGAGTGC	0.592000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	177					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238484	100238484	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100238484C>T	ENST00000462107.1	-	4	585	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	TFR2_ENST00000223051.3_Missense_Mutation_p.G100S|TFR2_ENST00000431692.1_Missense_Mutation_p.G100S			Q9UP52	TFR2_HUMAN	transferrin receptor 2	100					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGACGTAGCCCAGTAGGAAG	0.602000													28	127					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580557	39580557	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:39580557G>A	ENST00000432141.1	+	0	679					NR_027695.1																						GCCATCGAAGGAAAACCTTTA	0.403000													127	242					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631333	179631333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:179631333G>A	ENST00000444136.1	+	15	2667	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E	TDRD5_ENST00000294848.8_Missense_Mutation_p.G752E|TDRD5_ENST00000367614.1_Missense_Mutation_p.G752E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	802					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			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						GCTAAGATGGGAAAAGGAGGT	0.448000													59	65					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781973	107781973	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:107781973C>T	ENST00000311955.3	-	1	500	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	149					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGGAGGATTCTGTCAATGTC	0.577000													107	191					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13427328	13427328	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:13427328G>A	ENST00000278174.5	-	7	1129	c.884C>T	c.(883-885)cCt>cTt	p.P295L	BTBD10_ENST00000528120.1_Missense_Mutation_p.P247L|BTBD10_ENST00000530907.1_Missense_Mutation_p.P303L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	295						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TACCATGAGAGGGAGGATCAT	0.418000													7	114					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11622701	11622701	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11622701C>T	ENST00000262442.3	+	27	5671	c.5603C>T	c.(5602-5604)cCc>cTc	p.P1868L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1868L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1868	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGGGGCTCCCGCAGGACCT	0.612000													23	53					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432521	30432521	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30432521G>A	ENST00000375978.3	-	1	899	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	275					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GTGGTGCAGGGGAGGGGGCTG	0.657000													23	35					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224515	44224515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44224515G>A	ENST00000393812.3	-	2	255	c.112C>T	c.(112-114)Cga>Tga	p.R38*	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Nonsense_Mutation_p.R38*	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	38					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCACAAATCGGAAGAACCAT	0.597000													55	247					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32626955	32626955	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32626955C>T	ENST00000266086.4	-	10	1140	c.1129_splice	c.e10+1	p.G377_splice	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	377					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTTTCCTACCTTGGGGCATC	0.527000													12	44					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394730	154394730	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:154394730C>T	ENST00000435029.4	+	1	1471	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	437					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGAAGAGCTCAGGCAGCATG	0.463000													51	93					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160870	12160870	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:12160870C>T	ENST00000263035.4	+	15	2587	c.2525C>T	c.(2524-2526)cCg>cTg	p.P842L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	842					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCCCCTTCCCGTTGGATTCT	0.438000													81	154					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939665	89939665	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89939665G>A	ENST00000405460.2	+	14	2695	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	867					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CGGAGAACGGGAAAGCAAGTT	0.383000													3	15					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76922323	76922323	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76922323C>T	ENST00000409709.3	+	45	6450	c.6178C>T	c.(6178-6180)Ctg>Ttg	p.L2060L	MYO7A_ENST00000409619.2_Silent_p.L2011L|MYO7A_ENST00000458637.2_Silent_p.L2022L|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2060	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCAAGCTGCTGCGGGAGCT	0.632000													3	11					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345266	20345266	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20345266C>T	ENST00000298642.2	+	1	876	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTACTCCCACTCTGAACC	0.373000													31	63					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44946768	44946768	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44946768C>T	ENST00000291187.4	-	4	394	c.72G>A	c.(70-72)agG>agA	p.R24R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_5'UTR|ZNF229_ENST00000588931.1_Silent_p.R24R	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTTCTCCTCCCTATCTTGGG	0.478000													49	95					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222401	134222401	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134222401A>T	ENST00000359579.4	+	7	1049	c.729A>T	c.(727-729)aaA>aaT	p.K243N		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	243					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGCACAAAAAAACCGCAGCCC	0.443000													55	146					0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25853322	25853322	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25853322C>T	ENST00000354451.2	+	0	220																											CTTCCACGCCCATGGCTACCA	0.542000													8	31					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	674431	674431	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:674431C>T	ENST00000305108.4	-	3	817	c.537G>A	c.(535-537)ctG>ctA	p.L179L	NINJ2_ENST00000397265.3_Silent_p.L126L|NINJ2_ENST00000542920.1_Silent_p.L97L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	133					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CCCTGGCAGCCAGGAACCCTG	0.567000													15	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616423	179616423	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179616423T>G	ENST00000360870.5	-	46	10926	c.10704A>C	c.(10702-10704)aaA>aaC	p.K3568N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3563	Ig-like 21.						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)			CTTGGACCCTTTTAATCTCTA	0.413000													9	183					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803856	50803856	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:50803856G>A	ENST00000263046.4	+	5	877	c.711G>A	c.(709-711)gaG>gaA	p.E237E	TFAP2B_ENST00000393655.3_Silent_p.E228E			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	228					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E228D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACACCGGCGAGGTGTTTTGCT	0.493000													59	185					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22934727	22934727	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22934727G>A	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							CCTGGGGAAGGGGGGTTTATG	0.398000													34	83					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202843413	202843413	+	RNA	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:202843413G>T	ENST00000456105.2	+	0	1365					NR_002929.2																						GCAGGAGTAGGATGAATCAAG	0.493000													4	46					2.56e-06	2.5696e-06	1	1	0
BSN	8927	broad.mit.edu	37	3	49689307	49689307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49689307C>T	ENST00000296452.4	+	5	2432	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	773					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)		GCCTTTGACTCTGATGAGGAG	0.612000													27	48					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140724	239140724	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:239140724G>A	ENST00000456601.1	+	0	400																											GATGCTGGCTGGAGAAATCCG	0.498000													7	28					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906774	13906774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13906774C>T	ENST00000279593.3	-	3	696	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	CAGTCATATTCTTCCATGATG	0.423000													27	62					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646544	69646544	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:69646544G>A	ENST00000370598.1	+	5	1823	c.1002G>A	c.(1000-1002)agG>agA	p.R334R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	334	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAATCAAGGGTTTGCAATA	0.473000													6	19					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108461	45108461	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:45108461G>A	ENST00000429094.2	-	10	1562	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	NELL2_ENST00000452445.2_Missense_Mutation_p.S353F|NELL2_ENST00000437801.2_Missense_Mutation_p.S403F|NELL2_ENST00000395487.2_Missense_Mutation_p.S352F|NELL2_ENST00000333837.4_Missense_Mutation_p.S376F|NELL2_ENST00000551601.1_Missense_Mutation_p.S352F|NELL2_ENST00000549027.1_Missense_Mutation_p.S352F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	353	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATACTCCAGAAGAGGAATA	0.313000													5	84					0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275823	17275823	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:17275823G>A	ENST00000322611.3	+	2	758	c.498G>A	c.(496-498)ggG>ggA	p.G166G		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	166					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AAAGTGACGGGGCCCCAGCTT	0.682000													15	20					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146499	70146499	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70146499T>C	ENST00000335568.5	+	1	283	c.281T>C	c.(280-282)gTt>gCt	p.V94A	UGT2B28_ENST00000511240.1_Missense_Mutation_p.V94A	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	94					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)	ATGCAACAGGTTAAGAGATGG	0.323000													76	160					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612096	189612096	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189612096C>T	ENST00000264731.3	+	14	1937	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TP63_ENST00000449992.1_Silent_p.L437L|TP63_ENST00000456148.1_Silent_p.L518L|TP63_ENST00000382063.4_Silent_p.L531L|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Silent_p.L612L|TP63_ENST00000354600.5_Silent_p.L522L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	616	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCTCATCTCCTGCGGACCC	0.572000										HNSCC(45;0.13)			42	103					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733611	50733611	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50733611G>A	ENST00000300589.2	+	2	391	c.286G>A	c.(286-288)Ggt>Agt	p.G96S	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGGAATAAGGGTACTTGGGC	0.652000													27	61					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219554	124219554	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:124219554G>A	ENST00000518448.1	+	5	2945	c.931G>A	c.(931-933)Gga>Aga	p.G311R	FAM83A_ENST00000318462.6_Missense_Mutation_p.G311R|FAM83A_ENST00000276699.6_Missense_Mutation_p.G311R|FAM83A_ENST00000546351.1_Missense_Mutation_p.G255R|FAM83A_ENST00000536633.1_Missense_Mutation_p.G311R|FAM83A_ENST00000522648.1_Missense_Mutation_p.G255R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	311										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCCGCCCGGAGCAGCCCC	0.711000													19	39					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47566294	47566294	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:47566294G>A	ENST00000426342.1	-	6	810	c.64C>T	c.(64-66)Cct>Tct	p.P22S	MDGA2_ENST00000439988.2_Missense_Mutation_p.P251S|MDGA2_ENST00000399232.2_Missense_Mutation_p.P320S|MDGA2_ENST00000357362.3_Missense_Mutation_p.P22S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	251				SGQGVY -> EHLVIQ (in Ref. 2).	spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACAACTATAGGATCATCCACC	0.428000													47	95					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053669	74053669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74053669G>A	ENST00000298198.4	-	12	1780	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	490					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)					CAAGAAATAGGAAGTTTTTGA	0.284000													41	88					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95872963	95872963	+	Silent	SNP	C	C	T	rs145273328	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95872963C>T	ENST00000375464.2	+	3	392	c.264C>T	c.(262-264)gcC>gcT	p.A88A	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	88	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ATATCCAtgcccagcccctgc	0.662000													37	70					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319438	3319438	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:3319438C>T	ENST00000336727.3	+	2	2445	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	RGS12_ENST00000382788.3_Missense_Mutation_p.S514F|RGS12_ENST00000344733.5_Missense_Mutation_p.S514F|RGS12_ENST00000543385.1_Missense_Mutation_p.S514F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	514						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)		CCCCCAGCTTCCTTGAGGAGC	0.642000													28	73					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172578577	172578577	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:172578577C>T	ENST00000231668.9	+	3	290	c.186C>T	c.(184-186)ctC>ctT	p.L62L	BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Silent_p.L62L|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCAGTTCTCTATCAAAGGG	0.378000													21	64					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691028	30691028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:30691028G>A	ENST00000215790.7	-	5	705	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R93C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R188C|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.R55C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	181	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TTCAGCACACGGAATAGGTCC	0.642000													38	78					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855506	64855506	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64855506C>T	ENST00000294258.3	+	8	1005	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	285					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	p.R285C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCTCATGTCTCGCCTAGGCCG	0.682000													74	169					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26702507	26702507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26702507C>T	ENST00000272371.2	-	17	2053	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	OTOF_ENST00000403946.3_Missense_Mutation_p.E643K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	643					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)					CCATCAACTTCGTTCCCATAG	0.627000													23	41					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697238	51697238	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51697238C>T	ENST00000409535.1	+	22	4331	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	RAD54L2_ENST00000296477.3_Silent_p.S1096S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1402						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTTTCCTTCCCCTGTCTTGC	0.577000													53	90					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65083004	65083004	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65083004G>A	ENST00000358691.5	-	32	5601	c.5435C>T	c.(5434-5436)cCt>cTt	p.P1812L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1813L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTTCTGATAAGGAGTAGATGA	0.473000													105	127					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322619	45322619	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45322619C>T	ENST00000391955.1	+	12	1534	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	BCAM_ENST00000270233.6_Missense_Mutation_p.P497L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	497	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGCCAATCCCCGGACGGCAG	0.662000													44	119					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136399307	136399307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136399307C>T	ENST00000264160.4	+	15	1791	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P418L|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P474L|R3HDM1_ENST00000409478.1_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	474							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTTTGCTTCCCTTGGAAGCG	0.453000													6	170					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698322	33698322	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33698322G>A	ENST00000253193.7	+	7	2356	c.2154G>A	c.(2152-2154)cgG>cgA	p.R718R		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	718					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ATGCACCTCGGGAGCCCTGCT	0.697000													13	13					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582715	158582715	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158582715G>A	ENST00000368148.3	-	51	7206	c.7026C>T	c.(7024-7026)ttC>ttT	p.F2342F	SPTA1_ENST00000368147.3_Silent_p.F2339F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2342	EF-hand 2.				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)					TGTCAATCAGGAAAGCAGTAT	0.458000													15	82					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1118404	1118404	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1118404G>A	ENST00000379290.1	+	11	1238	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	TTLL10_ENST00000379288.3_Silent_p.G282G|TTLL10_ENST00000379289.1_Silent_p.G355G			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	355	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGTTCCGGGGGCCTCAGGCGC	0.716000													8	16					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26667678	26667678	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26667678G>A	ENST00000288710.2	+	10	1332	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CTTTGATGTggacaggatcat	0.493000													21	46					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56969549	56969549	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56969549C>T	ENST00000591790.1	-	4	1656	c.228G>A	c.(226-228)gaG>gaA	p.E76E	ZNF667_ENST00000292069.6_Silent_p.E76E|ZNF667_ENST00000504904.3_Silent_p.E76E|ZNF667_ENST00000342634.3_Silent_p.E169E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCTTACTGGCTCTACCATCC	0.478000													24	45					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41439679	41439679	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:41439679T>C	ENST00000301831.4	-	35	4031	c.3569A>G	c.(3568-3570)gAa>gGa	p.E1190G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1190							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTCCGGGTTTTCCCCTCCATA	0.413000													10	115					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381376	6381376	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6381376G>A	ENST00000262483.8	-	8	906	c.819C>T	c.(817-819)ttC>ttT	p.F273F	ACKR6_ENST00000421306.3_Silent_p.F237F	NM_031220.3	NP_112497.2																					AGATGGCATCGAAGGCCAGGA	0.672000													31	98					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513332	89513332	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89513332G>A	ENST00000498435.1	-	0	81																											CCTTACCTGGGAGCCAGAGCA	0.488000													30	103					0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53020228	53020228	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:53020228C>T	ENST00000321662.6	+	1	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	121						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACCTGCACTTCTTCCCCCACT	0.667000													30	72					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773789	157773789	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157773789G>A	ENST00000358292.3	-	3	216	c.165C>T	c.(163-165)ttC>ttT	p.F55F	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.F55F|FCRL1_ENST00000491942.1_Silent_p.F55F	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	55	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGTGTCTCTGAAAAAGCAGA	0.592000													106	123					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588280	28588280	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28588280C>T	ENST00000434452.1	-	10	1629	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DSC3_ENST00000360428.4_Missense_Mutation_p.G492D	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	492	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCCTTATAGCCGTTGATCTT	0.393000													23	34					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253766	47253766	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47253766G>A	ENST00000296861.2	-	2	1055	c.662C>T	c.(661-663)aCc>aTc	p.T221I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	221					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGAAGGTGAGGTGGAGCTGGA	0.547000													30	109					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002090	163002090	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163002090C>T	ENST00000418842.2	-	4	606	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	GCG_ENST00000375497.3_Missense_Mutation_p.E118K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	118					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GCAATGAATTCCTTGGCAGCT	0.418000													62	150					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72274263	72274263	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72274263T>G	ENST00000550746.1	+	4	283	c.219T>G	c.(217-219)gtT>gtG	p.V73V	TBC1D15_ENST00000319106.8_Silent_p.V81V|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.V73V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	73							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGTTCAGTTGTAGAATGGA	0.328000													8	12					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875725	30875725	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:30875725G>A	ENST00000454381.3	-	10	998	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	GADL1_ENST00000282538.5_Silent_p.L318L			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	318					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGCCATGCAGAAGCTTGCGG	0.408000													37	77					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882449	228882449	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228882449C>T	ENST00000392056.3	-	7	3167	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1041K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1041						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCCACTTCATTGGCAAAA	0.512000													65	122					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476346	10476346	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10476346G>A	ENST00000525621.1	-	7	1339	c.858C>T	c.(856-858)gcC>gcT	p.A286A	TYK2_ENST00000529370.1_Silent_p.A286A|TYK2_ENST00000264818.6_Silent_p.A286A|TYK2_ENST00000524462.1_Silent_p.A101A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	286	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCCCCCTCGGCCTGGGCCA	0.672000													21	28					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637149	248637149	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248637149C>T	ENST00000359594.2	+	1	523	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TGCTCACCCCCATTACCATGA	0.532000													43	35					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44137184	44137184	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44137184C>T	ENST00000542245.1	+	3	293	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CAPN11_ENST00000398776.1_Silent_p.F85F			Q9UMQ6	CAN11_HUMAN	calpain 11	85	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCCTTATTCCCTGCTGAAC	0.587000													4	21					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101739	21101739	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:21101739G>A	ENST00000377122.4	-	24	2873	c.2477C>T	c.(2476-2478)cCt>cTt	p.P826L	NEBL_ENST00000417816.2_Missense_Mutation_p.P163L|NEBL_ENST00000377159.4_Missense_Mutation_p.P129L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	826					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACGATGTGAGGGTGGACCCC	0.547000													7	94					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722784	46722784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46722784C>T	ENST00000318962.4	-	13	1471	c.1388G>A	c.(1387-1389)tGg>tAg	p.W463*	ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.W463*	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	463					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCCCTCTCCCAGTGGCCCGT	0.672000													94	179					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201492	81201492	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:81201492G>A	ENST00000394685.3	+	14	2061	c.1642G>A	c.(1642-1644)Gga>Aga	p.G548R	RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G548R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G548R			Q8WUJ3	K1199_HUMAN	KIAA1199	548										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAGCATATGGGACAGCAGCT	0.552000													19	52					0	0	1	0	0
RBPMS	11030	broad.mit.edu	37	8	30361814	30361814	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:30361814C>T	ENST00000320203.4	+	5	840	c.258C>T	c.(256-258)ttC>ttT	p.F86F	RBPMS_ENST00000287771.5_Silent_p.F86F|RBPMS_ENST00000397323.4_Silent_p.F86F|RBPMS_ENST00000517860.1_Silent_p.F86F|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.F86F|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.F86F|RBPMS_ENST00000520161.1_5'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	86	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	p.F86F(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GCATCCGCTTCGATCCTGAAA	0.448000													97	120					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29055016	29055016	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29055016C>T	ENST00000377173.2	-	1	74	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.E4*(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTCTCATTTTCCCAATTCATG	0.363000													17	61					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897628	153897628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:153897628G>A	ENST00000511601.1	+	12	3373	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1062					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCATCACTCGGACAGTGTCG	0.657000													51	86					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798276	53798276	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:53798276G>A	ENST00000575734.1	-	4	964	c.156C>T	c.(154-156)tcC>tcT	p.S52S	TMEM100_ENST00000424486.2_Silent_p.S52S	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	52						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						AGCGGTAGCAGGAGAGCTCGG	0.547000													36	126					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158157222	158157222	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158157222C>T	ENST00000259056.4	+	7	2635	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	717	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GAGATCATTCCCTGCTCCCGA	0.448000													37	93					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:53543377C>T	ENST00000371500.3	+	9	1187	c.846C>T	c.(844-846)atC>atT	p.I282I	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.I301I|PODN_ENST00000395871.2_Silent_p.I159I	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGAGAAGATCCCCCCGGGGG	0.617000													68	202					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960771	73960771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:73960771C>T	ENST00000373468.1	-	3	4272	c.3621G>A	c.(3619-3621)ggG>ggA	p.G1207G	KIAA2022_ENST00000055682.5_Silent_p.G1207G			Q5QGS0	K2022_HUMAN	KIAA2022	1207					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTTTTCAATCCCCTTGTTGT	0.438000													40	24					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28863796	28863796	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:28863796G>A	ENST00000422425.2	+	56	4113	c.4069G>A	c.(4069-4071)Gaa>Aaa	p.E1357K	PLB1_ENST00000327757.5_Missense_Mutation_p.E1368K|PLB1_ENST00000541605.1_Missense_Mutation_p.E333K|AC074011.2_ENST00000431376.1_RNA	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1368	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTCCAGCTGGAACCAGTGGG	0.587000													12	34					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329073	80329073	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:80329073C>T	ENST00000358842.3	-	1	299	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	94					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CAGTGGTTTCCCTCTGATTGC	0.428000													67	169					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52818394	52818394	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52818394G>A	ENST00000252245.5	-	9	1783	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	521	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGGTGGCACTGAATCCAGAAC	0.612000													102	167					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958096	61958096	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61958096G>A	ENST00000332800.7	-	4	625	c.492C>T	c.(490-492)gcC>gcT	p.A164A	GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AAGCCAGTGGGGCCCCAGGAT	0.582000													139	127					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399741	179399741	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179399741C>T	ENST00000589042.1	-	358	101825	c.101601G>A	c.(101599-101601)ctG>ctA	p.L33867L	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Silent_p.L24927L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L32226L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.L31299L|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Silent_p.L24802L|TTN_ENST00000342175.6_Silent_p.L24994L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32226	Ig-like 149.						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)			TAGCAATATTCAGAATGGAAA	0.343000													6	101					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61538607	61538607	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61538607G>A	ENST00000266070.4	-	5	1591	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	DIDO1_ENST00000370366.1_Silent_p.A422A|DIDO1_ENST00000370371.4_Silent_p.A422A|DIDO1_ENST00000370368.1_Silent_p.A422A|DIDO1_ENST00000395335.2_Silent_p.A422A|DIDO1_ENST00000395343.1_Silent_p.A422A|DIDO1_ENST00000266071.5_Silent_p.A422A|DIDO1_ENST00000395340.1_Silent_p.A422A|DIDO1_ENST00000354665.4_Silent_p.A422A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	422					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGTCGCTGCGGCGTGTTTGA	0.517000													112	268					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3726102	3726102	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:3726102G>A	ENST00000252505.3	+	4	291	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	62							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGGAGTTTGGGAAATGGATGG	0.463000										HNSCC(21;0.051)			22	31					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660219	77660219	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:77660219G>A	ENST00000296043.6	+	5	1846	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	298					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCCTCGAAGGGATGAGGCAG	0.547000													20	60					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579663	7579663	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7579663G>A	ENST00000379802.3	+	23	3581	c.3240G>A	c.(3238-3240)gaG>gaA	p.E1080E	DSP_ENST00000418664.2_Silent_p.E1080E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1080	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)		CGAGCCTGGAGGAGCTGAAGA	0.478000													47	155					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028590	27028590	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27028590C>T	ENST00000314616.6	+	37	5411	c.5128C>T	c.(5128-5130)Ccc>Tcc	p.P1710S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1710S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1710					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CGAAAGCACCCCCATGTCCAT	0.632000													33	79					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570927	61570927	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61570927C>T	ENST00000577647.1	+	9	1366	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y	ACE_ENST00000428043.1_Missense_Mutation_p.H1015Y|ACE_ENST00000421982.2_Missense_Mutation_p.H261Y|ACE_ENST00000290863.6_Missense_Mutation_p.H441Y|ACE_ENST00000290866.4_Missense_Mutation_p.H1015Y|ACE_ENST00000413513.3_Missense_Mutation_p.H441Y|ACE_ENST00000490216.2_Missense_Mutation_p.H441Y			P12821	ACE_HUMAN	angiotensin I converting enzyme	1015	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCGGCTTCCATGAGGCCAT	0.597000													43	110					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225676	21225676	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21225676C>T	ENST00000233242.1	-	29	12745	c.12618G>A	c.(12616-12618)ggG>ggA	p.G4206G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4206					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G4206G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCCAGGTTTCCCCGGAAACT	0.438000													28	71					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829069	23829069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23829069C>T	ENST00000216733.3	-	4	1225	c.618G>A	c.(616-618)tgG>tgA	p.W206*	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Nonsense_Mutation_p.W113*	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	206	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCTCCTTCCCACTCCAGAT	0.617000													58	107					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769066	31769066	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:31769066C>T	ENST00000240587.4	-	2	1960	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	545					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGATAGCCCCCCCAGCTAGGA	0.557000													82	137					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765873	60765873	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60765873G>A	ENST00000303375.5	+	22	3475	c.3073G>A	c.(3073-3075)Gcc>Acc	p.A1025T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1025	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ATTCATCACAGCCAGCCTGCC	0.547000													85	298					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727832	69727832	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:69727832C>T	ENST00000349945.1	+	14	5374	c.3822C>T	c.(3820-3822)ccC>ccT	p.P1274P	NFAT5_ENST00000393742.2_Silent_p.P1274P|NFAT5_ENST00000567239.1_Silent_p.P1367P|NFAT5_ENST00000566899.1_Silent_p.P1274P|NFAT5_ENST00000432919.1_Silent_p.P1368P|NFAT5_ENST00000354436.2_Silent_p.P1350P	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1350					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CACAGACCCCCTTGTTCCATA	0.483000													40	52					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140243568	140243568	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140243568G>T	ENST00000340951.4	-	16	2019	c.1824C>A	c.(1822-1824)ccC>ccA	p.P608P	EXD3_ENST00000342129.4_Silent_p.P288P	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	608					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						CCACCTGCCTGGGTGCGGCCG	0.647000													4	26					0.00909568	0.0091096	1	1	0
C7orf66	154907	broad.mit.edu	37	7	108524071	108524071	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:108524071C>T	ENST00000379007.2	-	2	395	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	114						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCTTAATTTCCCATTTCCTT	0.323000													24	98					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239311	100239311	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100239311C>T	ENST00000305046.8	-	3	218	c.151G>A	c.(151-153)Gac>Aac	p.D51N	ADH1B_ENST00000394887.3_Missense_Mutation_p.D11N|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	51					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCACGTGGTCATCTGTGTGA	0.463000													39	164					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35814565	35814565	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35814565G>A	ENST00000356031.3	+	37	5533		c.e37-1		SPEF2_ENST00000303129.4_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTGTCTTAGGATATTAAAA	0.313000													13	40					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137642	33137642	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33137642C>T	ENST00000341947.2	-	50	3883	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1112E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1193E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1138E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1172E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1159E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1198E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1133E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1219	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTGGAGATCCTGACTCTCC	0.537000													36	143					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221558	140221558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140221558G>A	ENST00000531613.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHA8_ENST00000378123.3_Missense_Mutation_p.G218S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGATGGGGGCAAACCTGA	0.473000													4	107					0	0	1	0	0
MIR3654	100500804	broad.mit.edu	37	11	62356599	62356599	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62356599A>G	ENST00000496634.2	-	2	222	c.177T>C	c.(175-177)ttT>ttC	p.F59F	TUT1_ENST00000476907.1_Silent_p.F59F|TUT1_ENST00000308436.7_Silent_p.F97F																NS(1)	1						AGCCACTGACAAACACACTTC	0.542000													7	74					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166960705	166960705	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:166960705G>A	ENST00000367872.4	+	3	560	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G75S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	106					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTCTTTAAAAGGTGATCAAGG	0.368000													8	208					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79358801	79358801	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:79358801C>A	ENST00000370742.3	-	13	1886	c.1823G>T	c.(1822-1824)aGt>aTt	p.S608I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	608					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CTCAAAGCAACTAACTTCTGG	0.308000													11	56					0.010729	0.0107436	1	1	0
OPRD1	4985	broad.mit.edu	37	1	29189522	29189522	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:29189522C>T	ENST00000234961.2	+	3	1088	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	282					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TCTTCGTCATCGTCTGGACGC	0.667000													5	24					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121260237	121260237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121260237G>A	ENST00000264233.5	-	3	561	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	145	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAAACAAAGGGAAGAATAAAC	0.378000								DNA polymerases (catalytic subunits)					5	279					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136561646	136561646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136561646C>T	ENST00000264162.2	-	11	4527	c.4517G>A	c.(4516-4518)tGg>tAg	p.W1506*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1506	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCATTCTCCCAGCCTCCTAC	0.527000													42	85					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243511	10243511	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10243511G>A	ENST00000418404.3	-	17	2175	c.2012C>T	c.(2011-2013)cCt>cTt	p.P671L	MYH13_ENST00000252172.4_Missense_Mutation_p.P671L|MYH13_ENST00000570743.1_Missense_Mutation_p.P671L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	671	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACAAAGTGAGGGTGGGTGCT	0.428000													10	19					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192012845	192012845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:192012845C>T	ENST00000392320.2	-	2	399	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	STAT4_ENST00000358470.4_Missense_Mutation_p.E29K|STAT4_ENST00000409995.1_Missense_Mutation_p.E29K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	29					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCCGAATTTCCATGGGAAAG	0.398000													48	73					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:134214955C>T	ENST00000535456.2	+	4	569	c.381C>T	c.(379-381)atC>atT	p.I127I	GLB1L2_ENST00000389881.3_Silent_p.I127I|GLB1L2_ENST00000339772.7_Silent_p.I127I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662000													7	31					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205337	73205337	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:73205337C>T	ENST00000545377.1	+	34	4438	c.4262C>T	c.(4261-4263)cCc>cTc	p.P1421L	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P1377L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P1108L|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.P341L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P1421L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CGAGGCGGCCCCTTGCAGGAC	0.642000													5	13					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147977	82147977	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:82147977C>T	ENST00000550584.2	-	2	319	c.24G>A	c.(22-24)acG>acA	p.T8T	PPFIA2_ENST00000548586.1_Silent_p.T8T|PPFIA2_ENST00000549325.1_Silent_p.T8T|PPFIA2_ENST00000552948.1_Silent_p.T8T|PPFIA2_ENST00000549396.1_Silent_p.T8T|PPFIA2_ENST00000333447.7_Silent_p.T8T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	267										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTCATTAATCGTGGGCATCA	0.428000													5	10					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769807	247769807	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247769807G>A	ENST00000320002.2	+	1	952	c.920G>A	c.(919-921)gGa>gAa	p.G307E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTCTCTCGGGAAAATTGTGA	0.383000													29	103					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281649	49281649	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:49281649G>A	ENST00000282018.3	+	1	699	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	232					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TAAAAGTGGAGGTCCCAGAAT	0.493000													54	83					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939937	169939937	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169939937C>T	ENST00000327239.4	+	6	1916	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	DHRS9_ENST00000602501.1_Silent_p.L138L|DHRS9_ENST00000432060.2_Silent_p.L198L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Silent_p.L138L|DHRS9_ENST00000428522.1_Silent_p.L138L|DHRS9_ENST00000436483.2_Silent_p.L138L|DHRS9_ENST00000412271.1_Silent_p.L138L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	138					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGAAGTGAACCTGTTTGGACT	0.483000													38	122					0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76934351	76934351	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76934351C>T	ENST00000306422.3	-	1	1162	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GCCTGGCGTCCAGGAGGTCGG	0.527000													10	9					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100452326	100452326	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100452326C>T	ENST00000354161.3	+	3	391	c.266C>T	c.(265-267)tCt>tTt	p.S89F	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.S89F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.S89F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	89						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCGTCCTCTCTGTCTGTGCC	0.627000													51	142					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65170939	65170939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:65170939C>T	ENST00000381210.3	-	7	785	c.675G>A	c.(673-675)tgG>tgA	p.W225*	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Nonsense_Mutation_p.W225*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	225					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.W225*(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTAAATCCCCAGTAAAAGG	0.313000													38	110					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240383	160240383	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160240383C>T	ENST00000275275.5	+	18	1669	c.1499_splice	c.e18+1	p.Q500_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.Q511_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	500						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGCCTGCTCCAGTAAGTGAC	0.627000													31	13					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131236	219131236	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219131236G>A	ENST00000248450.4	-	5	779	c.609C>T	c.(607-609)gtC>gtT	p.V203V	AAMP_ENST00000444053.1_Silent_p.V204V|AAMP_ENST00000420660.1_Silent_p.V184V			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	203					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCATTCGGGACTTTCCACA	0.622000													34	51					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574802	28574802	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:28574802C>T	ENST00000220562.4	+	3	2128	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	EXTL3_ENST00000523149.1_Missense_Mutation_p.P25L|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	409						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCAGCCTGCCGACTGAGTGG	0.597000													34	69					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753715	207753715	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207753715C>T	ENST00000367049.4	+	30	5067	c.5067C>T	c.(5065-5067)caC>caT	p.H1689H	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.H1239H|CR1_ENST00000367052.1_Silent_p.H1239H|CR1_ENST00000367053.1_Silent_p.H1239H|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.H1239H	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1239	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGTCTCTGCACTGCACACCCC	0.572000													119	132					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583539	179583539	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179583539C>T	ENST00000589042.1	-	84	24612	c.24388G>A	c.(24388-24390)Gat>Aat	p.D8130N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7813N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6886N|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7813	Ig-like 63.						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)			GTGACAAAATCTTCCAGAGAG	0.488000													18	35					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61005234	61005234	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61005234G>A	ENST00000373880.4	+	5	1278	c.1014G>A	c.(1012-1014)gtG>gtA	p.V338V	PHYHIPL_ENST00000373878.3_Silent_p.V312V	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	338										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CTGACCCTGTGGATCTTTCTG	0.433000													43	64					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74766913	74766913	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:74766913G>A	ENST00000356924.4	-	2	240	c.97C>T	c.(97-99)Cct>Tct	p.P33S	ABCD4_ENST00000557588.1_Missense_Mutation_p.P33S|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000298816.7_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	33						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GACCAAGAAGGAAACAAAACC	0.512000													37	56					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728477	23728477	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23728477C>T	ENST00000304749.2	-	3	472	c.402G>A	c.(400-402)gtG>gtA	p.V134V	CST1_ENST00000398402.1_Silent_p.V134V	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	134						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACCTGGATTTCACCAGGGACC	0.557000													26	42					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522800	23522800	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:23522800G>A	ENST00000296682.3	+	8	870	c.688G>A	c.(688-690)Gtg>Atg	p.V230M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	230					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGACAGTGCAGTGGACAAGGG	0.552000										HNSCC(3;0.000094)			32	26					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100103676	100103676	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:100103676G>A	ENST00000372966.3	-	12	1716	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	NOX1_ENST00000372960.4_Missense_Mutation_p.S467F|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.S455F	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	504	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCCCAAAGGAGGTTTTCTG	0.428000													10	119					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902934	16902934	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16902934G>C	ENST00000430580.2	-	19	2834	c.1947C>G	c.(1945-1947)acC>acG	p.T649T	NBPF1_ENST00000287968.8_Silent_p.T14T|NBPF1_ENST00000432949.1_Silent_p.T107T	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	649						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCCTTAACTGGGTCAGCTCTC	0.507000													26	506					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672145	3672145	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3672145G>A	ENST00000344754.4	-	17	4432	c.4433C>T	c.(4432-4434)aCc>aTc	p.T1478I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1478I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1478	Ig-like C2-type 15.				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						CCATGCAAAGGTGGAGTTGCC	0.677000													42	83					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188211077	188211077	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:188211077C>T	ENST00000409998.1	-	16	2001	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	CALCRL_ENST00000392370.3_Missense_Mutation_p.G407E|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.G407E|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	407						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAAGCTGTTTCCAAATTGGAT	0.378000													27	34					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141592068	141592068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141592068C>T	ENST00000442267.2	-	7	1146	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	358	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTGCCTTTTCCACAATTGTC	0.458000													58	100					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32052775	32052775	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:32052775C>T	ENST00000438447.1	+	9	2112	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P575L			O15018	PDZD2_HUMAN	PDZ domain containing 2	575					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGGAATCTCCTTGGAGGCTC	0.478000													69	125					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241648	55241648	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55241648C>T	ENST00000275493.2	+	18	2273	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	EGFR_ENST00000455089.1_Missense_Mutation_p.P654L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.P646L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	699	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P699L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAGAAGCTCCCAACCAAGCT	0.537000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	118					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82031632	82031632	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:82031632C>T	ENST00000395578.1	-	15	2026	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	PRKG2_ENST00000418486.2_Missense_Mutation_p.G608E|PRKG2_ENST00000545647.1_Missense_Mutation_p.G217E|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G637E			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	637	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CACTAGAATTCCCAGTGACCA	0.423000													31	62					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554723	140554723	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140554723C>T	ENST00000231137.3	+	1	2481	c.2307C>T	c.(2305-2307)atC>atT	p.I769I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		769					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)			AACCAATTATCCCCAACCTGC	0.488000													35	150					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726349	63726349	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:63726349G>A	ENST00000421025.1	+	5	607	c.338G>A	c.(337-339)aGa>aAa	p.R113K	ZNF679_ENST00000255746.4_Missense_Mutation_p.R113K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GTAATACCAAGAAGATATGGA	0.363000													13	54					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367631	107367631	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107367631G>A	ENST00000542196.1	-	1	320	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAAAGGGAAATGGTCTT	0.517000													42	83					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298927	37298927	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37298927C>T	ENST00000310758.4	-	6	919	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R91Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R91Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	91					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|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						GGACTGGATTCGTTCATGGAG	0.502000													37	58					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809933	41809933	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41809933C>T	ENST00000392006.3	+	13	2202	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R588W|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R577W|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R577W|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R677W|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R563W|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R577W	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	677	Asn-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAACAACAACCGGGATAACAA	0.577000													7	145					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4845926	4845926	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:4845926T>C	ENST00000262482.6	+	5	1002	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P	RNF167_ENST00000576229.1_Missense_Mutation_p.S81P|RNF167_ENST00000575111.1_Missense_Mutation_p.S116P|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000572430.1_Missense_Mutation_p.S116P|RNF167_ENST00000571816.1_Missense_Mutation_p.S116P	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	116	PA.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						CAATGTGAATTCCAATGAACT	0.512000													53	122					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140454029	140454029	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:140454029A>G	ENST00000288602.6	-	14	1759	c.1699T>C	c.(1699-1701)Tta>Cta	p.L567L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	567	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTGGCGTGTAAGTAACTGAAA	0.388000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	127					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37841721	37841721	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:37841721C>T	ENST00000381967.4	+	6	659	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PGM2_ENST00000544359.1_Missense_Mutation_p.P48S|PGM2_ENST00000537241.1_Missense_Mutation_p.P27S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	187					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GATCATTTCTCCTCACGATAA	0.418000													42	99					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126367465	126367465	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126367465G>A	ENST00000394329.3	+	8	7224	c.7211G>A	c.(7210-7212)gGa>gAa	p.G2404E	FAT4_ENST00000335110.5_Missense_Mutation_p.G702E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2404	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCATCGGTGGAAACTCTCAG	0.353000													41	76					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150453	233150453	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233150453C>T	ENST00000258229.8	-	28	5144	c.4910G>A	c.(4909-4911)gGg>gAg	p.G1637E	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G289E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1637						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCTCCTCCCCAGGGTGCA	0.537000													7	121					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922577	55922577	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:55922577C>T	ENST00000244728.5	-	30	3149	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D915N|COL21A1_ENST00000370808.2_Missense_Mutation_p.D284N|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.D918N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	918					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGTCTCCATCTTTGCCAGGG	0.527000													6	17					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96068428	96068428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96068428C>T	ENST00000260766.3	+	27	6609	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F	PLCE1_ENST00000371385.3_Missense_Mutation_p.S1684F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1992F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1684F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1992					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGAAAATTCCTCTGGCAAT	0.413000													43	109					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8873388	8873388	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:8873388C>T	ENST00000396600.2	+	15	2260	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ABAT_ENST00000268251.8_Missense_Mutation_p.S441F|ABAT_ENST00000569156.1_Missense_Mutation_p.S441F|ABAT_ENST00000567812.1_Missense_Mutation_p.S456F|ABAT_ENST00000425191.2_Missense_Mutation_p.S441F	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	441					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTTTTGCTCCTTCGATACT	0.522000													28	38					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256692	240256692	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240256692C>T	ENST00000319653.9	+	1	1513	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	428					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCAGCTCGCCCAATCAC	0.667000													54	130					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255801	48255801	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:48255801G>A	ENST00000400384.2	+	6	2377	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.K236K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	447					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCGACAACAAGCCGCACCACT	0.706000													5	11					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48757227	48757227	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48757227G>A	ENST00000285238.8	+	26	3854	c.3774G>A	c.(3772-3774)gaG>gaA	p.E1258E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1258					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGCTGTGGAGAGGGTCAAGG	0.522000													22	59					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124096184	124096184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124096184C>T	ENST00000368994.2	+	15	1693	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	BTBD16_ENST00000260723.4_Missense_Mutation_p.S480F			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	480										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACCACGTCATCCTGCAAAAGC	0.483000													33	58					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901310	51901310	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:51901310G>A	ENST00000268919.4	+	1	1072	c.916G>A	c.(916-918)Gga>Aga	p.G306R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	306	Kinesin-motor.			G -> R (in Ref. 1; AAK20830).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGGCAGACGGGAAGTGGGAA	0.552000													36	77					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123984589	123984589	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:123984589G>A	ENST00000306315.5	-	4	1923	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ZNF608_ENST00000504926.1_Silent_p.S69S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	496						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTTGTTGGTGGAGGAAGGGC	0.557000													32	103					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16578204	16578204	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16578204G>A	ENST00000375592.3	-	10	1331	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	372										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATAGGTGATGGGCGAGAGTT	0.557000													22	69					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74596228	74596228	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74596228G>C	ENST00000361874.3	-	15	2015	c.1698C>G	c.(1696-1698)gcC>gcG	p.A566A	DCTN1_ENST00000409567.3_Silent_p.A546A|DCTN1_ENST00000394003.3_Silent_p.A559A|DCTN1_ENST00000407639.2_Silent_p.A432A|DCTN1_ENST00000409868.1_Silent_p.A549A|DCTN1_ENST00000409438.1_Silent_p.A432A|DCTN1_ENST00000409240.1_Silent_p.A529A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	566					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCTGACCTTGGCATGGGCCT	0.542000													34	82					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36136471	36136471	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36136471C>T	ENST00000296603.4	-	6	1149	c.687G>A	c.(685-687)aaG>aaA	p.K229K		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	229						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTGGCTGCCTTAAAATACG	0.403000													7	388					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133511	47133511	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:47133511C>T	ENST00000422732.2	-	0	435					NR_033957.1																						TTGCCAAAATCATTGTAGCTT	0.478000													40	236					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191103	72191103	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:72191103C>T	ENST00000356056.5	-	25	4213	c.3741G>A	c.(3739-3741)caG>caA	p.Q1247Q	MYO9A_ENST00000566885.1_Silent_p.Q867Q|MYO9A_ENST00000564571.1_Silent_p.Q1247Q|MYO9A_ENST00000444904.1_Silent_p.Q1228Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.Q1247Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1247	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCACATCTTCCTGCAAGTCCA	0.483000													16	189					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929290	119929290	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:119929290C>T	ENST00000361035.4	+	6	929	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	HAO2_ENST00000325945.3_Missense_Mutation_p.L203F	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	203	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGCACTTCTCTCTGCTGGAA	0.433000													35	91					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926869	130926869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:130926869C>T	ENST00000261655.4	-	8	1140	c.977G>A	c.(976-978)tGg>tAg	p.W326*	RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.W234*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.W234*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	326	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACCGTTCCCCATCCTGGTGG	0.552000													17	180					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356757	104356757	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104356757G>A	ENST00000374806.1	-	1	526	c.456C>T	c.(454-456)tcC>tcT	p.S152S	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	149	EF-hand 4.						calcium ion binding	p.S152S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ATTCCTCAAAGGATATCTTCC	0.502000													45	81					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105289105	105289105	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:105289105C>T	ENST00000258538.3	-	3	809	c.682G>A	c.(682-684)Gat>Aat	p.D228N		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	228						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATGGGTGAATCCATCTTCCCA	0.343000													17	48					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31376689	31376689	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31376689C>T	ENST00000328111.2	+	7	1005	c.684C>T	c.(682-684)ctC>ctT	p.L228L	DNMT3B_ENST00000375623.4_Silent_p.L186L|DNMT3B_ENST00000456297.2_Silent_p.L152L|DNMT3B_ENST00000201963.3_Silent_p.L240L|DNMT3B_ENST00000443239.3_Silent_p.L186L|DNMT3B_ENST00000348286.2_Silent_p.L228L|DNMT3B_ENST00000353855.2_Silent_p.L228L|DNMT3B_ENST00000344505.4_Silent_p.L228L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	228	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGGGGACCTCGTGTGGGGAA	0.582000													21	66					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758110	15758110	+	Silent	SNP	C	C	T	rs142788549	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15758110C>T	ENST00000221307.7	+	5	549	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CYP4F3_ENST00000585846.1_Silent_p.F167F|CYP4F3_ENST00000591058.1_Silent_p.F167F|CYP4F3_ENST00000586182.1_Silent_p.F167F	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	167					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAAGATTTTCAATGAGAGTG	0.502000													57	143					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399672	179399672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179399672C>T	ENST00000589042.1	-	358	101894	c.101670G>A	c.(101668-101670)atG>atA	p.M33890I	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M24950I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32249I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M31322I|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M24825I|TTN_ENST00000342175.6_Missense_Mutation_p.M25017I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32249							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)			ACTCAAAGATCATAACTAATT	0.333000													29	32					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38132083	38132083	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:38132083G>A	ENST00000399120.1	-	10	2970	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	HLCS_ENST00000336648.3_Silent_p.I580I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	580					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAACTCCGCCGATCTTCATGA	0.373000													15	147					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740094	15740094	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15740094G>A	ENST00000441682.2	+	0	1550							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGACCACAGGGAGCCACGCAG	0.652000													5	31					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054933	49054933	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49054933G>A	ENST00000440857.1	-	5	933	c.231C>T	c.(229-231)ctC>ctT	p.L77L	DALRD3_ENST00000341949.4_Silent_p.L244L|DALRD3_ENST00000441576.2_Silent_p.L244L|DALRD3_ENST00000395462.4_Silent_p.L77L|DALRD3_ENST00000313778.5_Silent_p.L77L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	244					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCACAGAGAGGAGATCCTCAG	0.572000													25	47					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973843	29973843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:29973843C>T	ENST00000378993.1	+	11	2670	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S666L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	666					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGACAAAATCGAGCAGGGAG	0.532000													10	17					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28950363	28950363	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:28950363G>A	ENST00000524189.1	-	37	4395	c.4357C>T	c.(4357-4359)Cct>Tct	p.P1453S	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1453					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTTGACAGGATTCAAGTAG	0.478000													10	23					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260969	25260969	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:25260969G>A	ENST00000354454.3	+	21	2304	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	LRMP_ENST00000547044.1_Missense_Mutation_p.R492Q|LRMP_ENST00000548766.1_Missense_Mutation_p.R492Q	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	548					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACCAGACTCCGACACAATGGG	0.438000													53	111					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41304125	41304125	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41304125C>T	ENST00000373083.4	+	2	575	c.353C>T	c.(352-354)tCt>tTt	p.S118F	NCR2_ENST00000373086.3_Missense_Mutation_p.S118F|NCR2_ENST00000373089.5_Missense_Mutation_p.S118F	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	118	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCTGACAACTCTGTCTCTAAG	0.532000													47	149					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67635682	67635682	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:67635682C>T	ENST00000478722.1	+	21	3129	c.2008C>T	c.(2008-2010)Ctc>Ttc	p.L670F	GPHN_ENST00000305960.9_Missense_Mutation_p.L606F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.L637F|GPHN_ENST00000543237.1_Missense_Mutation_p.L683F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	637	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CACCTGCAATCTCTTTGTTGT	0.423000			T	MLL	AL								5	91					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123471232	123471232	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123471232C>T	ENST00000360772.3	-	6	697	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	MYLK_ENST00000360304.3_Missense_Mutation_p.E107K|MYLK_ENST00000359169.1_Missense_Mutation_p.E107K|MYLK_ENST00000475616.1_Missense_Mutation_p.E107K|MYLK_ENST00000346322.5_Missense_Mutation_p.E107K			Q15746	MYLK_HUMAN	myosin light chain kinase	107	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGTGGCTTCACAGGTATAC	0.597000													51	115					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979502	2979502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2979502G>A	ENST00000396946.4	-	6	1148	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	249					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTAGAGACTGATTTCTCTCC	0.483000			Mis		DLBCL								74	131					0	0	1	0	0
PDLIM7	9260	broad.mit.edu	37	5	176911120	176911120	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176911120G>A	ENST00000355841.2	-	11	1188	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Silent_p.I340I	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	374	LIM zinc-binding 2.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGTTCCGGATGGGCGTCT	0.622000													56	109					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112400878	112400878	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112400878C>T	ENST00000368662.5	-	6	484	c.406G>A	c.(406-408)Gat>Aat	p.D136N	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	136					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGCAAGCAATCACAGTGCTCT	0.383000													11	117					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3808188	3808188	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3808188G>A	ENST00000225538.3	-	3	595	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	107					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TCGGGGTCACGATGAAATTGG	0.617000													5	10					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1269577	1269577	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:1269577C>T	ENST00000446702.2	+	4	885	c.258C>T	c.(256-258)atC>atT	p.I86I	CNTN6_ENST00000350110.2_Silent_p.I86I|CNTN6_ENST00000539053.1_Silent_p.I14I			Q9UQ52	CNTN6_HUMAN	contactin 6	86	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTTGCAATCAATAGCCCCC	0.433000													43	98					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099744	110099744	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110099744G>A	ENST00000518632.1	+	2	354	c.3G>A	c.(1-3)atG>atA	p.M1I	TRHR_ENST00000311762.2_Start_Codon_SNP_p.M1I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	1						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTCTAAAGATGGAAAACGAGA	0.463000													23	45					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220369990	220369990	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220369990C>T	ENST00000358215.3	+	8	1030	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	GMPPA_ENST00000373908.1_Missense_Mutation_p.R221C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R221C|GMPPA_ENST00000313597.5_Missense_Mutation_p.R221C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R221C|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	221					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGGTACCATCCGCCTAGAGCA	0.582000													31	47					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181112	79181112	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:79181112G>A	ENST00000554719.1	+	5	1046	c.555G>A	c.(553-555)gtG>gtA	p.V185V	NRXN3_ENST00000335750.5_Silent_p.V185V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	189	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATATCAGTGAACAGCAGGC	0.572000													138	240					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35440501	35440501	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:35440501C>T	ENST00000278379.3	-	1	295	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	SLC1A2_ENST00000606205.1_Missense_Mutation_p.E5K|SLC1A2_ENST00000395750.1_Intron|SLC1A2_ENST00000395753.1_Intron	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	5					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCTCACCCTTCCGTAGATGCC	0.677000													4	12					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822115	24822115	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24822115G>A	ENST00000376451.2	+	11	2672	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	KIAA1217_ENST00000307544.6_Silent_p.K804K|KIAA1217_ENST00000396446.1_Silent_p.K804K|KIAA1217_ENST00000376452.3_Silent_p.K1085K|KIAA1217_ENST00000396445.1_Silent_p.K804K|KIAA1217_ENST00000376462.1_Silent_p.K1041K|KIAA1217_ENST00000458595.1_Silent_p.K1086K|KIAA1217_ENST00000376454.3_Silent_p.K1121K			Q5T5P2	SKT_HUMAN	KIAA1217	1121					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCCTCAAAGGATGAGGAGG	0.552000													25	71					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189615	38189615	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38189615C>T	ENST00000355202.4	-	5	2012	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G472R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGTTTCTCTCCTGTATGAATT	0.378000													38	102					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126933	104126933	+	Silent	SNP	G	G	A	rs145207929	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:104126933G>A	ENST00000388887.2	+	51	5637	c.5433G>A	c.(5431-5433)ttG>ttA	p.L1811L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1811	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGTATTTGAAGTTTCATG	0.468000													45	121					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158262426	158262426	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:158262426G>T	ENST00000296526.7	+	12	2180	c.1855G>T	c.(1855-1857)Ggg>Tgg	p.G619W	GRIA2_ENST00000393815.2_Missense_Mutation_p.G572W|GRIA2_ENST00000264426.9_Missense_Mutation_p.G619W|GRIA2_ENST00000449365.1_Missense_Mutation_p.G572W|GRIA2_ENST00000507898.1_Missense_Mutation_p.G572W	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	619					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCCCTCTCTGGGCGCATTGT	0.393000													55	132					4.00338e-15	4.03593e-15	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701623	143701623	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143701623C>T	ENST00000408922.2	+	1	602	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACCACTTCTTCTGTGACATCT	0.488000													43	128					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004380	248004380	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004380G>A	ENST00000355784.2	-	1	874	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGACAGAAATGATCTTGTTGA	0.473000													20	89					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506087	66506087	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:66506087G>A	ENST00000360242.5	+	3	868	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E251K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E251K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E251K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	251										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCTGCCTTTGGAAAATGAAGT	0.388000													26	39					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271294	1271294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1271294G>A	ENST00000308624.5	+	14	1364	c.1235G>A	c.(1234-1236)tGg>tAg	p.W412*	SNTG2_ENST00000407292.1_Nonsense_Mutation_p.W285*	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	412	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGGCCATGTGGGAGAAGTCC	0.542000													12	31					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967745	10967745	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10967745C>T	ENST00000254488.2	+	9	1242	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	392					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGCCTCTCTCCCCGCTGTGGG	0.642000													124	357					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426594	26426594	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26426594C>T	ENST00000466808.2	+	0	910																											ACGGTGAGGTCGTGCCTGCCC	0.587000													46	117					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41825558	41825558	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41825558C>T	ENST00000269967.3	+	3	704	c.582C>T	c.(580-582)acC>acT	p.T194T		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	194										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGTATCTCACCCAGGAGGAGC	0.647000													6	213					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30556347	30556347	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30556347G>A	ENST00000217299.3	+	1	543	c.369G>A	c.(367-369)ccG>ccA	p.P123P		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	123						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGGTCCCCGGGACCCGCCG	0.672000													19	16					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641733	57641733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57641733G>A	ENST00000254181.4	+	4	2144	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	USP29_ENST00000598197.1_Missense_Mutation_p.E564K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	564					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGTCCTGGAAGTCTCTCA	0.443000													74	155					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888648	89888648	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:89888648C>T	ENST00000435811.1	-	9	1684	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	GABRR1_ENST00000454853.2_Silent_p.L427L|GABRR1_ENST00000369451.3_Silent_p.L340L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	427					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGGCCAGGGTCAGCTGCACCA	0.537000													112	63					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452398	10452398	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10452398C>T	ENST00000397077.1	-	5	876	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ATP2B2_ENST00000352432.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E101K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	101					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCAGCGCCTCCCACACGAGC	0.557000													126	364					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121544469	121544469	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:121544469G>A	ENST00000275159.6	-	21	2393	c.2394C>T	c.(2392-2394)tcC>tcT	p.S798S	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.S798S					TBC1 domain family, member 32																		TAGCAGGATAGGATAACAAGT	0.343000													6	95					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881276	228881276	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228881276C>T	ENST00000392056.3	-	7	4340	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1432						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGATCTGTTTCAATCTGAATC	0.453000													37	98					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72301547	72301547	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:72301547G>A	ENST00000334456.5	-	8	872	c.627C>T	c.(625-627)ccC>ccT	p.P209P	PDE2A_ENST00000444035.2_Silent_p.P200P|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Silent_p.P94P|PDE2A_ENST00000544570.1_Silent_p.P202P|PDE2A_ENST00000540345.1_Silent_p.P200P	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	209					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCCCCTCCGGGGGGTTCTGGA	0.736000													3	16					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333054	70333054	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:70333054C>T	ENST00000373644.4	+	2	1168	c.959C>T	c.(958-960)tCt>tTt	p.S320F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	320					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTTGGTGGGTCTACGTCTCCT	0.458000													6	212					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786060	156786060	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156786060C>T	ENST00000442283.2	+	25	2856	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	CYFIP2_ENST00000347377.6_Silent_p.F907F|CYFIP2_ENST00000435847.2_Silent_p.F606F|CYFIP2_ENST00000522463.1_Silent_p.F711F|CYFIP2_ENST00000377576.3_Silent_p.F907F|CYFIP2_ENST00000318218.6_Silent_p.F932F|CYFIP2_ENST00000521420.1_Silent_p.F881F|CYFIP2_ENST00000541131.1_Silent_p.F832F	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	0					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.F932F(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGAATTTCGTGGGGCCAC	0.488000													13	258					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59360028	59360028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:59360028C>T	ENST00000399598.2	+	8	1036	c.914C>T	c.(913-915)cCg>cTg	p.P305L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	305	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		p.P305L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTCATTTCCGAATAAAGAG	0.388000													54	78					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5756937	5756937	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:5756937G>A	ENST00000327087.8	-	16	1647	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	ANO2_ENST00000546188.1_Missense_Mutation_p.R527C|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.R527C			Q9NQ90	ANO2_HUMAN	anoctamin 2	531						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.R527C(1)|p.R526C(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCTGGGAAACGATCCTTCCAG	0.438000													11	12					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283045	69283045	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69283045C>T	ENST00000338352.2	+	1	705	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	224	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGCTGAGGGCCCTGTCGCAC	0.617000													41	11					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473000													80	217					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478657	85478657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:85478657G>A	ENST00000394573.1	+	15	1691	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	SLC28A1_ENST00000286749.3_Missense_Mutation_p.E497K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E497K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E497K|SLC28A1_ENST00000538177.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	497					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTTTCTGAACGAGTTTGTGGC	0.597000													59	109					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110256324	110256324	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110256324G>A	ENST00000369813.1	+	3	1083	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GSTM5_ENST00000256593.3_Missense_Mutation_p.E101K|GSTM5_ENST00000369812.5_Missense_Mutation_p.E120K|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	101	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGACATTTTGGAGAACCAGGT	0.532000													20	39					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523541	100523541	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100523541T>A	ENST00000358544.2	+	29	4620	c.4509T>A	c.(4507-4509)ctT>ctA	p.L1503L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1478L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1503					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTGTTCTTTATTTTCCTT	0.363000													35	46					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547909	62547909	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:62547909G>A	ENST00000430451.2	+	4	1548	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	451	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AATGATGGGAGAGAAACTATT	0.522000													8	26					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784435	9784435	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:9784435C>T	ENST00000304374.2	+	1	1178	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	261					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)	AGGATTTCCTCCCTGGAGAGG	0.627000													39	52					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719646	81719646	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81719646C>T	ENST00000550584.2	-	21	2847	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D	PPFIA2_ENST00000548586.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G777D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G833D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G698D|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G68D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G752D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G833D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G418D	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	777										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCATAAAGCCTCCTGTGAA	0.423000													11	25					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813750	2813750	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2813750C>T	ENST00000301740.8	+	11	3770	c.3221C>T	c.(3220-3222)cCa>cTa	p.P1074L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1074	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACTTCAAGTCCAGAAGTGAGA	0.473000													57	137					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174070	207174070	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207174070G>A	ENST00000374423.3	+	5	5204	c.4818G>A	c.(4816-4818)cgG>cgA	p.R1606R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1606							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						TAATAAACCGGAAGAAGGACT	0.378000													15	25					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886966	150886966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150886966C>T	ENST00000261800.5	-	22	12278	c.12266G>A	c.(12265-12267)aGg>aAg	p.R4089K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4089					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAACACTCCTGGCCAGGAG	0.577000													45	74					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829206	101829206	+	Nonsense_Mutation	SNP	C	C	T	rs146129537		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101829206C>T	ENST00000375001.3	+	40	4117	c.3694C>T	c.(3694-3696)Cga>Tga	p.R1232*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1232	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGGGACATTCGAGCTGATTT	0.483000													45	81					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550970	41550970	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41550970G>A	ENST00000400454.1	-	15	3308	c.2831C>T	c.(2830-2832)tCg>tTg	p.S944L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	944	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGGTGGCCGAGTTCAGCTG	0.488000													31	62					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285308	223285308	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223285308A>T	ENST00000540964.1	-	4	1527	c.1066T>A	c.(1066-1068)Ttc>Atc	p.F356I	TLR5_ENST00000342210.6_Missense_Mutation_p.F356I			O60602	TLR5_HUMAN	toll-like receptor 5	356					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGTCCATAGAAATTCGAACTG	0.353000													86	105					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303675	134303675	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:134303675C>T	ENST00000344129.2	-	2	348	c.122G>A	c.(121-123)gGa>gAa	p.G41E	CXorf48_ENST00000276241.6_Missense_Mutation_p.G41E	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	41										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TGTGACAACTCCCTGCACAGT	0.418000													19	9					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581122	178581122	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:178581122G>A	ENST00000251582.7	-	8	1411	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P437L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	437	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCACCAGGGGCGCCATGAT	0.701000													7	20					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56101383	56101383	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56101383G>A	ENST00000257880.7	-	1	303	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ITGA7_ENST00000555728.1_Silent_p.F28F|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Silent_p.F28F|ITGA7_ENST00000553804.1_Silent_p.F28F|ITGA7_ENST00000394230.2_Silent_p.F28F|ITGA7_ENST00000347027.6_Silent_p.F28F|ITGA7_ENST00000257879.6_Silent_p.F28F			Q13683	ITA7_HUMAN	integrin, alpha 7	28					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCCCGTGAGAAGAGCAGTT	0.662000													7	13					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652081	121652081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121652081G>A	ENST00000393386.2	+	12	3392	c.2981G>A	c.(2980-2982)gGg>gAg	p.G994E	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	994					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTGGTGATGGGGAATGGTCT	0.448000													6	252					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862188	21862188	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21862188T>A	ENST00000399982.2	-	31	5830	c.5766A>T	c.(5764-5766)aaA>aaT	p.K1922N	CHD8_ENST00000430710.3_Missense_Mutation_p.K1643N|CHD8_ENST00000557364.1_Missense_Mutation_p.K1922N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1922					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTCCCACCATTTGGGCAATT	0.547000													24	66					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97363441	97363441	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97363441G>A	ENST00000457909.1	+	0	3682							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AGCTGTTCTGGGCCACAGATG	0.542000													22	56					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408132	10408132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10408132G>A	ENST00000226207.5	-	22	2780	c.2686C>T	c.(2686-2688)Caa>Taa	p.Q896*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	896						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCACAGCTTGAACCTGGAGT	0.423000													22	51					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834398	101834398	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101834398G>T	ENST00000506729.1	-	1	322	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L51M|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L51M|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L51M|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L51M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	51						integral to membrane|plasma membrane	transporter activity			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)		AGTAGTCTCAGATACCGGTGT	0.577000													155	311					1.23459e-71	1.25084e-71	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20477043	20477043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20477043C>T	ENST00000573854.1	+	3	496	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R49*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R128*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	128					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						GGGCTGCATTCGAGCAGGTTG	0.562000													9	38					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161530934	161530934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:161530934G>A	ENST00000356592.3	+	6	1131	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	GABRG2_ENST00000414552.2_Missense_Mutation_p.R264Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R129Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R224Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	224					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CAATGGAAGCGAAGTTCTGTT	0.398000													32	53					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077708	146077708	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:146077708C>T	ENST00000394413.3	-	3	739		c.e3-1		PPP2R2B_ENST00000394410.2_Splice_Site|PPP2R2B_ENST00000504198.1_Splice_Site|PPP2R2B_ENST00000394414.1_Splice_Site|PPP2R2B_ENST00000336640.6_Splice_Site|PPP2R2B_ENST00000508545.2_Splice_Site|PPP2R2B_ENST00000394409.3_Splice_Site|PPP2R2B_ENST00000530902.1_Splice_Site|PPP2R2B_ENST00000453001.1_Splice_Site|PPP2R2B_ENST00000356826.3_Splice_Site|PPP2R2B_ENST00000394411.4_Splice_Site			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTTTTACTCTGTAGGAAAG	0.408000													64	115					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44233322	44233322	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44233322C>T	ENST00000275015.5	-	1	178	c.179G>A	c.(178-180)gGa>gAa	p.G60E		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	60					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGTCCTCCTCCTCGCCCCGC	0.766000													3	11					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49913031	49913031	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49913031G>T	ENST00000447857.3	+	15	1373	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	390						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGCAACTGCTGATCTCTCCAA	0.502000													17	54					0.000566183	0.000567726	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160662558	160662558	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160662558G>A	ENST00000366953.3	-	9	1707	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	483					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGTAGACCAGGAATGGCGTGA	0.423000													44	34					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992573	159992573	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:159992573C>T	ENST00000327245.5	-	26	5119	c.4273G>A	c.(4273-4275)Gag>Aag	p.E1425K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1425					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAGGTGCTCCCCGGATGAG	0.557000													16	152					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51467434	51467434	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:51467434C>T	ENST00000298355.3	-	6	2552	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L	TRIM9_ENST00000338969.5_Silent_p.L473L|TRIM9_ENST00000360392.4_Silent_p.L477L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	477	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CATCCAGCTCCAGAATGTATC	0.547000													13	37					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697985	17697985	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:17697985C>T	ENST00000353383.1	+	3	2192	c.1723C>T	c.(1723-1725)Cta>Tta	p.L575L	RAI1_ENST00000261641.6_Silent_p.L575L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	575						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTTCCAGAGCCTACACGGCAG	0.627000													55	149					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878119	151878119	+	Missense_Mutation	SNP	G	G	A	rs143627631	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151878119G>A	ENST00000355193.2	-	36	7044	c.6826C>T	c.(6826-6828)Cct>Tct	p.P2276S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2276S					lysine (K)-specific methyltransferase 2C																		GGGGGCCTAGGTGTCTGGGAA	0.532000													43	141					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52219574	52219574	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52219574G>A	ENST00000540069.2	-	4	1053	c.993C>T	c.(991-993)acC>acT	p.T331T	HAS1_ENST00000601714.1_Silent_p.T339T|HAS1_ENST00000222115.1_Silent_p.T332T|HAS1_ENST00000594621.1_Intron			Q92839	HAS1_HUMAN	hyaluronan synthase 1	332					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTACAGTGGGTACCCAGGA	0.542000													30	88					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876529	35876529	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35876529C>T	ENST00000303115.3	+	8	1450	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	441					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			TCTTACTTCCCTGGGATCAAA	0.483000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						26	64					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38246405	38246405	+	Nonsense_Mutation	SNP	G	G	A	rs149774401		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:38246405G>A	ENST00000302609.7	-	3	297	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGAGTCCTCTGAGCAGGGGTC	0.433000													45	131					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131211548	131211548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:131211548G>A	ENST00000337057.3	-	11	1727	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	EPB41L2_ENST00000525271.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R516C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	516	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCACTATAGCGAAATTTGGAC	0.517000													55	119					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696175	48696175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48696175G>A	ENST00000352832.5	+	31	5857	c.5485G>A	c.(5485-5487)Gag>Aag	p.E1829K	CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1845K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1806K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1845K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1829K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1838K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1863K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1870K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1863K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1863K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1818K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1840K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1829K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1829K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1811K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1840K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1818K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1822K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1863K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1829K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1856K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1852K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1863					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			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)	GGAGGCCAAGGAGGAGGCCGA	0.627000													5	59					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878282	5878282	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5878282G>A	ENST00000537935.1	-	1	682	c.651C>T	c.(649-651)atC>atT	p.I217I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATAATAAGGATAACATCCA	0.478000													30	33					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572226	53572226	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53572226G>A	ENST00000601421.1	-	3	2329	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C	ZNF160_ENST00000418871.1_Missense_Mutation_p.R521C|ZNF160_ENST00000429604.1_Missense_Mutation_p.R521C|ZNF160_ENST00000599056.1_Missense_Mutation_p.R521C			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	521					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R521C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGACTTGAACGAACACTGAAG	0.398000													53	132					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834408	178834408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:178834408C>T	ENST00000234816.2	-	3	951	c.504G>A	c.(502-504)atG>atA	p.M168I	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.M168I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	168						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						ATCTTGTTGCCATCTTCAACA	0.383000													6	62					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096826	73096826	+	Silent	SNP	C	C	T	rs138345813		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73096826C>T	ENST00000450736.2	+	4	1483	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	SLC16A5_ENST00000538213.2_Silent_p.I396I|SLC16A5_ENST00000580123.1_Silent_p.I356I|SLC16A5_ENST00000329783.4_Silent_p.I356I			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	356					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCATGGACATCGTCCCCATGG	0.617000													25	89					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103242	168103242	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168103242C>T	ENST00000409195.1	+	9	5429	c.5340C>T	c.(5338-5340)atC>atT	p.I1780I	XIRP2_ENST00000295237.9_Silent_p.I1780I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1558I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1605					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAAGAAATCATTGGTGGTG	0.418000													6	113					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702793	40702793	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:40702793C>T	ENST00000356699.5	+	4	479	c.450C>T	c.(448-450)tcC>tcT	p.S150S	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		CCATTCTCTCCCTGTTAGCTT	0.597000													142	498					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217037	1217037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:1217037G>A	ENST00000304460.10	+	8	1206	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	384					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGACCTGCGACATCAACGC	0.657000													100	193					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033193	55033193	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:55033193C>T	ENST00000374987.3	+	6	948	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	294					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGGCCTCTTTCCTGCTGCCTG	0.602000								Other BER factors					18	6					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3779539	3779539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3779539G>A	ENST00000381771.2	-	11	1235	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	CAMKK1_ENST00000381769.2_Missense_Mutation_p.S352F|CAMKK1_ENST00000348335.2_Missense_Mutation_p.S325F|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S363F			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	325	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GCTCTGGCCGGAATCAGAAAT	0.627000													13	75					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748208	30748208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30748208G>A	ENST00000263056.1	+	8	1747	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E351K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E351K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	351	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ACCTCCACTGGAAGACATTGC	0.498000													26	64					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580875	99580875	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99580875G>A	ENST00000481138.1	-	6	2091	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	ZNF782_ENST00000535338.1_Missense_Mutation_p.P345L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACATTCAAAAGGTTTCTCCCC	0.413000													85	201					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872178	213872178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:213872178C>T	ENST00000457361.1	-	8	1655	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	IKZF2_ENST00000374327.4_Missense_Mutation_p.R351Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.R496Q|IKZF2_ENST00000342002.2_Missense_Mutation_p.R502Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.R422Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.R424Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.R470Q	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGTGGGTCCCGGTAGCCATG	0.507000													63	129					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639268	18639268	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:18639268C>T	ENST00000380548.4	+	7	1032	c.693C>T	c.(691-693)acC>acT	p.T231T	ADAMTSL1_ENST00000276935.6_Silent_p.T231T|ADAMTSL1_ENST00000327883.7_Silent_p.T231T|ADAMTSL1_ENST00000380566.4_Silent_p.T231T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	231						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAACCAAAACCCTCCAGGGGA	0.428000													17	17					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371134	33371134	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:33371134C>T	ENST00000270112.2	+	11	2142	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	594					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGAAATTCCAGCGAGAGGA	0.552000													25	56					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196641	6196641	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6196641G>A	ENST00000262450.3	-	17	2731	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	878	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTCTGAAGGGGGGTCCCTGTC	0.557000													56	123					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157494	26157494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:26157494G>A	ENST00000325250.1	+	2	579	c.392G>A	c.(391-393)gGa>gAa	p.G131E		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	131	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATTACAAAGGGAGATATGATA	0.423000													3	5					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110831176	110831176	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:110831176C>T	ENST00000485303.1	+	2	735	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	PVRL3_ENST00000319792.3_Missense_Mutation_p.P154S|PVRL3_ENST00000493615.1_Missense_Mutation_p.P131S|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	154	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGTTACATTCCCGCTTGGAAA	0.338000													5	102					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262127	65262127	+	Silent	SNP	G	G	A	rs149192360	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65262127G>A	ENST00000389722.3	-	11	1625	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	SPTB_ENST00000556626.1_Silent_p.L524L|SPTB_ENST00000389720.3_Silent_p.L524L|SPTB_ENST00000389721.5_Silent_p.L524L|SPTB_ENST00000542895.1_Silent_p.L524L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	524					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGTGGTCTCGAGCCTCTGGC	0.622000													23	71					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54135958	54135958	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54135958G>A	ENST00000404125.1	-	22	2647	c.2592C>T	c.(2590-2592)caC>caT	p.H864H	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	864					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTACTTCTCGGTGGTTCTCTC	0.303000													44	110					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792671	143792671	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143792671C>T	ENST00000408949.2	+	1	531	c.471C>T	c.(469-471)gtC>gtT	p.V157V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGGCTCTGGTCCATATTACTC	0.448000													82	160					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995322	140995322	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140995322C>T	ENST00000285879.4	+	4	2418	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	711							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)					CTCCATTTTCCTCAGAGTCCT	0.557000										HNSCC(15;0.026)			96	45					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46268712	46268712	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:46268712C>T	ENST00000372004.3	+	16	3213	c.2997C>T	c.(2995-2997)ggC>ggT	p.G999G	NCOA3_ENST00000341724.6_Silent_p.G929G|NCOA3_ENST00000371997.3_Silent_p.G994G|NCOA3_ENST00000371998.3_Silent_p.G999G	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	999					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATCCCTATGGCCAAGCAGCAG	0.468000													31	71					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55733455	55733455	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:55733455C>T	ENST00000288221.6	-	16	3053	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	933						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R933Q(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCCAGGAGATCgatggtggtg	0.493000													92	164					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123508916	123508916	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123508916C>T	ENST00000392770.2	-	4	1364	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SCN3B_ENST00000530277.1_Missense_Mutation_p.E188K|SCN3B_ENST00000299333.3_Missense_Mutation_p.E188K	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	188					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.E188K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCTGCCTCTTCGGCTTTTGAG	0.463000													24	17					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716663	13716663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13716663C>T	ENST00000279593.3	-	13	3718	c.3509G>A	c.(3508-3510)gGa>gAa	p.G1170E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1170					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	ACAGGGCCCTCCTCCGCTGAC	0.587000													41	67					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626567	55626567	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55626567T>A	ENST00000373965.2	-	28	3967	c.3573A>T	c.(3571-3573)atA>atT	p.I1191I	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I1113I|PCDH15_ENST00000395445.1_Silent_p.I1191I|PCDH15_ENST00000395433.1_Silent_p.I1162I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.I1184I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.I1147I|PCDH15_ENST00000395438.1_Silent_p.I1184I|PCDH15_ENST00000409834.1_Silent_p.I795I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.I1184I|PCDH15_ENST00000414778.1_Silent_p.I1189I|PCDH15_ENST00000320301.6_Silent_p.I1184I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1184	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGTGGTATTATGAGTCTGT	0.363000										HNSCC(58;0.16)			26	109					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974717	49974717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49974717C>T	ENST00000555099.1	+	1	775	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S248F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTCATCTTATCCTTTATACCC	0.433000													51	148					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023494	167023494	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167023494C>T	ENST00000392766.2	-	17	2002	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L	ZBBX_ENST00000392764.1_Silent_p.L525L|ZBBX_ENST00000307529.5_Silent_p.L554L|ZBBX_ENST00000455345.2_Silent_p.L554L|ZBBX_ENST00000392767.2_Silent_p.L554L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	554						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCTCAATTCCAAGGATTCTT	0.323000													27	64					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831458	61831458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61831458G>A	ENST00000280772.1	-	37	9372	c.9181C>T	c.(9181-9183)Ccc>Tcc	p.P3061S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3061					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						TCACTAGAGGGAGATTCCTTT	0.473000													57	103					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151235902	151235902	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:151235902G>A	ENST00000274576.4	-	5	811	c.519C>T	c.(517-519)ttC>ttT	p.F173F	GLRA1_ENST00000455880.2_Silent_p.F173F|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.F90F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	173					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCCATGGGGAAATTCTTCA	0.498000													25	52					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450828	155450828	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:155450828G>T	ENST00000461783.3	+	6	1744	c.471G>T	c.(469-471)aaG>aaT	p.K157N	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.K157N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K157N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K157N|TIAM2_ENST00000318981.5_Missense_Mutation_p.K157N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	157					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGACCGCAAGAGCCCCCGAG	0.572000													53	31					4.78724e-31	4.844e-31	1	1	0
PHF21A	51317	broad.mit.edu	37	11	45987125	45987125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45987125G>A	ENST00000257821.4	-	9	1360	c.737C>T	c.(736-738)cCt>cTt	p.P246L	PHF21A_ENST00000418153.2_Missense_Mutation_p.P245L|PHF21A_ENST00000323180.6_Missense_Mutation_p.P246L	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	245					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGGGCAATAGGAATGTTATT	0.498000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517752	195517752	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195517752C>T	ENST00000463781.3	-	2	1158	c.699G>A	c.(697-699)ggG>ggA	p.G233G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.G233G|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	238					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGAAACAGTCCCTGTCACAT	0.473000													17	194					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045175	204045175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:204045175G>A	ENST00000449802.1	+	42	6781	c.6448G>A	c.(6448-6450)Gat>Aat	p.D2150N		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2150	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAATCCATATGATGTTAAAGA	0.348000													36	80					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83330671	83330671	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83330671G>A	ENST00000261722.3	-	24	3072	c.2865C>T	c.(2863-2865)acC>acT	p.T955T	AP3B2_ENST00000535348.1_Silent_p.T923T|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.T974T	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	955					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCGGGTCTGGGTGCTGGGAG	0.537000													14	25					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796412	29796412	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29796412G>A	ENST00000428701.1	+	4	614	c.436G>A	c.(436-438)Gat>Aat	p.D146N	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.D146N|HLA-G_ENST00000376828.2_Missense_Mutation_p.D151N|HLA-G_ENST00000376818.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	146	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGATGGCAAGGATTACCTCGC	0.627000													8	278					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76492080	76492080	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76492080T>G	ENST00000389840.5	-	38	5862	c.5738A>C	c.(5737-5739)aAa>aCa	p.K1913T	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.K1922T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAATGCTTTTTTCTTGGCCCG	0.532000													17	82					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876381	35876381	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35876381G>A	ENST00000303115.3	+	8	1302	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	391					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			TAGACTGCAGGGAGAGTGGCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						39	82					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32984667	32984667	+	Silent	SNP	G	G	A	rs146721073		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:32984667G>A	ENST00000379817.2	-	5	928	c.732C>T	c.(730-732)ctC>ctT	p.L244L	APTX_ENST00000436040.2_Intron|APTX_ENST00000309615.3_Silent_p.L258L|APTX_ENST00000397172.3_Silent_p.L186L|APTX_ENST00000463596.1_Silent_p.L244L|APTX_ENST00000379825.2_Silent_p.L258L|APTX_ENST00000468275.1_Silent_p.L244L|APTX_ENST00000379813.3_Silent_p.L244L|APTX_ENST00000379819.1_Silent_p.L258L|APTX_ENST00000476858.1_Silent_p.L204L			Q7Z2E3	APTX_HUMAN	aprataxin	258	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		ATCGGAAGCGGAGTTTGCTGG	0.542000								Editing and processing nucleases					48	112					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962858	117962858	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117962858C>T	ENST00000425217.1	-	14	1985	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	KSR2_ENST00000339824.5_Missense_Mutation_p.G673E|KSR2_ENST00000302438.5_Missense_Mutation_p.G370E|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	673					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)					GCGGCCCTTTCCAATGAGCTC	0.622000													24	46					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826993	143826993	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143826993C>T	ENST00000408899.2	+	1	843	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCCCCCAAGTCCCGCCATCCT	0.552000													88	341					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390454	21390454	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:21390454C>T	ENST00000313654.9	+	13	1969	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	LAMA3_ENST00000399516.3_Silent_p.F576F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	576	Domain V.|Laminin EGF-like 5.				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)	CTTATGATTTCCCCCACTGCC	0.562000													46	70					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766199	61766199	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61766199C>T	ENST00000361357.3	+	11	1240	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	MAP3K3_ENST00000579585.1_Missense_Mutation_p.R308W|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R273W|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R277W|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R304W	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	277					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R277W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AACCTACCCCCGGCGCTACCA	0.532000													45	151					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74036987	74036987	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74036987G>A	ENST00000307877.2	-	14	1758	c.1597C>T	c.(1597-1599)Ctt>Ttt	p.L533F	SRP68_ENST00000539137.1_Missense_Mutation_p.L495F|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.L432F|SRP68_ENST00000602720.1_Missense_Mutation_p.L194F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	533					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GGCTCACCAAGGATGGCTGCG	0.547000													77	69					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986340	223986340	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223986340G>A	ENST00000391878.2	-	13	1906	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P509S|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	503					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGTTTTGTAGGAACAGGAGGT	0.373000													62	81					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139316467	139316467	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:139316467G>A	ENST00000406875.3	-	3	1202	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	HIPK2_ENST00000428878.2_Missense_Mutation_p.P370S|HIPK2_ENST00000342645.6_Missense_Mutation_p.P370S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	370	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGATCTCAGGGGCCCTGAAA	0.443000													8	42					0	0	1	0	0
CHKA	1119	broad.mit.edu	37	11	67833919	67833919	+	Silent	SNP	G	G	A	rs80257081		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67833919G>A	ENST00000265689.4	-	8	1019	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CHKA_ENST00000356135.5_Silent_p.F313F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	331					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TGCTGTATTCGAAATCAATGA	0.343000													47	109					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908193	103908193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:103908193G>A	ENST00000302259.3	+	1	886	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	215					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCCAAAATAGAAGAGGAAAT	0.493000													19	139					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477782	179477782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179477782C>T	ENST00000589042.1	-	265	49890	c.49666G>A	c.(49666-49668)Gga>Aga	p.G16556R	TTN_ENST00000359218.5_Missense_Mutation_p.G7616R|TTN_ENST00000591111.1_Missense_Mutation_p.G14915R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13988R|TTN_ENST00000460472.2_Missense_Mutation_p.G7491R|TTN_ENST00000342175.6_Missense_Mutation_p.G7683R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14915	Fibronectin type-III 20.						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)			GTTGGTTTTCCAGGGGGCCAT	0.363000													24	54					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694563	6694563	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6694563C>T	ENST00000245907.6	-	24	3125	c.3033G>A	c.(3031-3033)ggG>ggA	p.G1011G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1011					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		TGTTCTGTTCCCCGCAGCCCG	0.622000													52	81					0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	23015906	23015906	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23015906G>A	ENST00000432176.2	-	7	781	c.549C>T	c.(547-549)ttC>ttT	p.F183F	FAM126A_ENST00000409923.1_Silent_p.F183F	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	183						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ACAACAAAAGGAATGTCAACA	0.353000													32	59					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12198941	12198941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:12198941C>T	ENST00000379033.3	+	7	733	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	SEC61A2_ENST00000304267.8_Missense_Mutation_p.H218Y|SEC61A2_ENST00000379020.4_Missense_Mutation_p.H218Y|SEC61A2_ENST00000298428.9_Missense_Mutation_p.H218Y|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	218						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGCTCTGTTCCATTTGTTGGC	0.468000													33	92					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156113	22156113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22156113G>A	ENST00000397126.4	-	4	1871	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTACAGTATGAATTTTCTTA	0.348000													19	56					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743631	17743631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17743631C>T	ENST00000428389.2	-	29	3651	c.3652G>A	c.(3652-3654)Gaa>Aaa	p.E1218K	UNC13A_ENST00000552293.1_Missense_Mutation_p.E1130K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1128K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1130K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1130K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1130K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1130	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCGGGAAGTTCCGTCACATAC	0.552000													40	71					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045187	20045187	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20045187C>T	ENST00000343769.5	+	4	1451	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	475						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAAGAAAATTCATACTGGAGA	0.368000													28	90					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467669	50467669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50467669G>A	ENST00000331340.3	+	8	1059	c.904G>A	c.(904-906)Gag>Aag	p.E302K	IKZF1_ENST00000438033.1_Missense_Mutation_p.E215K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E159K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E215K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E215K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E72K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E260K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E260K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	302					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTACGAGAAGGAGAACGAAAT	0.642000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	16					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87027869	87027869	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87027869C>T	ENST00000331536.3	+	18	1933	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	CROT_ENST00000419147.2_Missense_Mutation_p.S611F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	583					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.S583F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCCTGGAAATCCTGTCCCGAG	0.403000													43	128					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													35	71					1.06647e-15	1.07551e-15	1	1	0
RASSF8	11228	broad.mit.edu	37	12	26217503	26217503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:26217503C>T	ENST00000405154.2	+	3	375	c.176C>T	c.(175-177)cCt>cTt	p.P59L	RASSF8_ENST00000282884.9_Missense_Mutation_p.P59L|RASSF8_ENST00000542865.1_Missense_Mutation_p.P59L|RASSF8_ENST00000541490.1_Missense_Mutation_p.P59L|RASSF8_ENST00000381352.3_Missense_Mutation_p.P59L	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	59	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CATGAAAATCCTATCATATCC	0.433000													8	178					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290135	62290135	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62290135G>A	ENST00000378024.4	-	5	12028	c.11754C>T	c.(11752-11754)gcC>gcT	p.A3918A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3918					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACATCTGGGGCATTAATAT	0.478000													156	337					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330180	33330180	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33330180G>A	ENST00000374796.2	-	12	6450	c.3880C>T	c.(3880-3882)Cct>Tct	p.P1294S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1294S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1294	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AAATTGGAAGGATTCATGGTA	0.433000													45	105					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176678	41176678	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41176678C>T	ENST00000263413.3	-	8	1331	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R356Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	356	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCGAATATTCGGCTGTACAA	0.423000													30	115					0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3573720	3573720	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3573720T>A	ENST00000333651.6	+	3	144	c.69T>A	c.(67-69)caT>caA	p.H23Q	HMG20B_ENST00000585741.1_3'UTR|MFSD12_ENST00000591878.1_5'UTR	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	23					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCCAGCATGGGGGCTTCG	0.701000													6	20					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152332867	152332867	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:152332867C>T	ENST00000440973.1	+	7	1543	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	ESR1_ENST00000443427.1_Silent_p.L391L|ESR1_ENST00000544394.1_Silent_p.L218L|ESR1_ENST00000338799.5_Silent_p.L391L|ESR1_ENST00000456483.2_Silent_p.L279L|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Silent_p.L391L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	391	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGATTGGTCTCGTCTGGCGCT	0.498000													50	122					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047480	11047480	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11047480C>T	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACAACTTACTTTGCATTTC	0.328000													20	436					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20228649	20228649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20228649C>T	ENST00000418063.2	+	4	398	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	96						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGATTCCTTCCAAAAAGTGAT	0.348000													7	26					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585792	49585792	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49585792C>T	ENST00000371175.4	-	3	507	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RHAG_ENST00000229810.7_Missense_Mutation_p.E161K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	161					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTAAATATTTCACTAACCAGG	0.383000													18	50					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83177832	83177832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:83177832C>T	ENST00000398309.2	-	21	2803	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	DLG2_ENST00000280241.8_Missense_Mutation_p.G817E|DLG2_ENST00000418306.2_Missense_Mutation_p.G657E|DLG2_ENST00000543673.1_Missense_Mutation_p.G883E|DLG2_ENST00000531015.1_Missense_Mutation_p.G745E|DLG2_ENST00000426717.2_Missense_Mutation_p.G242E|DLG2_ENST00000537455.1_Missense_Mutation_p.G528E|DLG2_ENST00000404783.3_Missense_Mutation_p.G256E|DLG2_ENST00000524982.1_Missense_Mutation_p.G774E|DLG2_ENST00000330014.6_Missense_Mutation_p.G699E|DLG2_ENST00000376104.2_Missense_Mutation_p.G883E|DLG2_ENST00000376106.3_Missense_Mutation_p.G242E|DLG2_ENST00000532653.1_Missense_Mutation_p.G760E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	778	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GATAGCATTTCCTGATACATC	0.403000													26	84					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104712	44104712	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:44104712C>T	ENST00000361807.3	+	4	355	c.161C>T	c.(160-162)tCt>tTt	p.S54F	ZNF485_ENST00000374435.3_Missense_Mutation_p.S54F|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGGCTTCTCTCTTCCAAACCA	0.473000													5	50					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701961	7701961	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7701961C>T	ENST00000572933.1	+	55	9944	c.8484C>T	c.(8482-8484)tcC>tcT	p.S2828S	DNAH2_ENST00000389173.2_Silent_p.S2828S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2828	AAA 4 (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)				CTGATGAGTCCTTCCTAGAGG	0.527000													33	84					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161167	29161167	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:29161167C>T	ENST00000321990.4	+	2	446	c.66_splice	c.e2-1	p.P23_splice		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	23					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATTGCCAGCCATGCAAAAAG	0.303000													44	81					0	0	1	0	0
PCP2	126006	broad.mit.edu	37	19	7696656	7696656	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7696656T>C	ENST00000311069.5	-	4	620	c.330A>G	c.(328-330)caA>caG	p.Q110Q	CTD-3214H19.4_ENST00000595866.1_Intron|PET100_ENST00000594797.1_3'UTR|PCP2_ENST00000598935.1_Silent_p.Q94Q	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	110					signal transduction		GTPase activator activity			endometrium(1)|urinary_tract(1)	2						TGAGCAGGGGTTGGGGACTGA	0.692000													11	55					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52585421	52585421	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52585421G>A	ENST00000313234.5	-	1	363	c.266C>T	c.(265-267)gCc>gTc	p.A89V	KRT80_ENST00000394815.2_Missense_Mutation_p.A89V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	89	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCATTGAGGGCCTTCATCTC	0.572000													36	126					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38129841	38129841	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38129841G>A	ENST00000308059.6	+	10	1648	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	DLEC1_ENST00000452631.2_Missense_Mutation_p.V543M|DLEC1_ENST00000346219.3_Missense_Mutation_p.V543M			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	543					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGCCTTCGGTGTTTGAGCT	0.453000													7	127					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828717	23828717	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23828717G>A	ENST00000216733.3	-	4	1577	c.970C>T	c.(970-972)Cct>Tct	p.P324S	EFS_ENST00000429593.2_Missense_Mutation_p.P155S|EFS_ENST00000351354.3_Missense_Mutation_p.P231S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	324	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCTGGGGCAGGAGAGGGCACT	0.736000													14	42					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212566827	212566827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:212566827C>T	ENST00000342788.4	-	12	1664	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E452K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E452K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	452					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	p.E452K(2)		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)		GCGCTGATTTCCTTCAGGGAC	0.448000										TSP Lung(8;0.080)			48	98					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179494559	179494559	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:179494559G>A	ENST00000367618.3	+	22	2974	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	863	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACTTCAGGAGGAAAATAAAGA	0.343000													10	49					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327782	52327782	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52327782G>A	ENST00000339223.4	+	2	960	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	FPR3_ENST00000595991.1_Missense_Mutation_p.G261S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	261					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGAACTAATTGGCATTCTAAT	0.408000													30	87					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402550	89402550	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:89402550G>A	ENST00000439576.2	+	12	7108	c.6734G>A	c.(6733-6735)gGa>gAa	p.G2245E	ACAN_ENST00000561243.1_Missense_Mutation_p.G2245E|ACAN_ENST00000352105.7_Missense_Mutation_p.G2245E|ACAN_ENST00000559004.1_Missense_Mutation_p.G2245E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2245					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGTACTCAGGAGAAGAGACT	0.542000													12	20					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229505	115229505	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115229505G>A	ENST00000369538.3	-	3	376	c.329C>T	c.(328-330)aCt>aTt	p.T110I	AMPD1_ENST00000520113.2_Missense_Mutation_p.T114I|AMPD1_ENST00000353928.6_Missense_Mutation_p.T81I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	81					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAAATTAACAGTCTTCCGTCC	0.388000													30	85					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638479	234638479	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234638479C>T	ENST00000482026.1	+	1	726	c.707C>T	c.(706-708)tCt>tTt	p.S236F	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGCCTTGCCTCTGAGCTTTTT	0.502000													118	210					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062689	66062689	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66062689C>T	ENST00000327259.4	+	2	1116	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	324						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAGCTcgcccccgccggggg	0.716000													7	10					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379561	54379561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54379561C>T	ENST00000303460.4	+	1	592	c.518C>T	c.(517-519)cCt>cTt	p.P173L		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	173					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TTCGAAGCCCCTTTCGAGCAG	0.652000													34	47					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	T	rs147405090		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98509802C>T	ENST00000359863.4	+	18	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000													42	182					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621827	234621827	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234621827G>A	ENST00000373414.3	+	1	190	c.190G>A	c.(190-192)Gag>Aag	p.E64K	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCTCACCCTGGAGGTGAATAT	0.562000													38	60					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172013252	172013252	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172013252G>A	ENST00000336824.4	+	8	1048	c.949G>A	c.(949-951)Gag>Aag	p.E317K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E317K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E317K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	317	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTACAGTTACGAGGTGGCCTT	0.433000													57	123					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871148	71871148	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71871148G>A	ENST00000258104.3	+	41	4741	c.4464G>A	c.(4462-4464)agG>agA	p.R1488R	DYSF_ENST00000409651.1_Silent_p.R1520R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.R1506R|DYSF_ENST00000394120.2_Silent_p.R1489R|DYSF_ENST00000429174.2_Silent_p.R1509R|DYSF_ENST00000409366.1_Silent_p.R1510R|DYSF_ENST00000409744.1_Silent_p.R1496R|DYSF_ENST00000409582.3_Silent_p.R1526R|DYSF_ENST00000409762.1_Silent_p.R1505R|DYSF_ENST00000413539.2_Silent_p.R1519R|DYSF_ENST00000410020.3_Silent_p.R1527R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1488						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TAGGGGAGAGGGAAAAGTGCG	0.517000													13	19					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116345774	116345774	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116345774G>A	ENST00000374140.2	+	21	2291	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	RGS3_ENST00000462143.1_Silent_p.E15E|RGS3_ENST00000343817.5_Silent_p.E413E|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.E15E|RGS3_ENST00000350696.5_Silent_p.E694E|RGS3_ENST00000394646.3_Intron	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	694					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTTGGAGGAAGGGAAGG	0.557000													13	55					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511855	23511855	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23511855G>A	ENST00000408907.2	+	1	480	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TCAATACCGGGGACTGGATCT	0.627000													36	116					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779949	36779949	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36779949C>T	ENST00000416516.2	-	2	692	c.202G>A	c.(202-204)Gga>Aga	p.G68R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	68						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCTTGCATCCTGCAACTTCG	0.597000													77	152					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38857444	38857444	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38857444T>A	ENST00000264651.2	-	3	859	c.803A>T	c.(802-804)cAg>cTg	p.Q268L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	268	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACTCTCAATCTGCATCTCCAG	0.507000													6	117					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250843	10250843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10250843G>A	ENST00000340748.4	-	32	3872	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	DNMT1_ENST00000359526.4_Nonsense_Mutation_p.Q1229*|DNMT1_ENST00000540357.1_Nonsense_Mutation_p.Q1213*|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1213	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTCCCTTCTGGGGCAGCCGC	0.622000													56	108					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341701	121341701	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121341701C>T	ENST00000338040.4	+	3	1839	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	475					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCTCTGCCTTCACTTTCACTT	0.542000													19	41					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35938099	35938099	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:35938099G>A	ENST00000297866.5	+	1	249	c.183G>A	c.(181-183)ccG>ccA	p.P61P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	61										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACCGCCTCCCGATTACTGTGC	0.577000													4	27					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677870	7677870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7677870G>A	ENST00000446248.2	+	13	2673	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E831K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	831					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGCGGAGGAGACGCCCCC	0.726000													3	17					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119029946	119029946	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:119029946G>A	ENST00000298472.5	+	15	1555	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	471					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTTTTCTTCGAAGTCCACCT	0.393000													43	88					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133588	177133588	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177133588C>T	ENST00000367654.2	-	1	238	c.225G>A	c.(223-225)ccG>ccA	p.P75P	ASTN1_ENST00000367657.3_Silent_p.P75P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.P75P|ASTN1_ENST00000424564.2_Silent_p.P75P			O14525	ASTN1_HUMAN	astrotactin 1	75					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						CCATTTCTCCCGGGAAGTCGT	0.667000													37	21					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124833	47124833	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47124833G>A	ENST00000291294.2	-	3	998	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	PTGIR_ENST00000598865.1_Missense_Mutation_p.P77S|PTGIR_ENST00000594275.1_Missense_Mutation_p.P46S|PTGIR_ENST00000597185.1_Missense_Mutation_p.P18S	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	289					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	AAGACCCAGGGGTCCAGGATG	0.627000													52	80					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155314127	155314127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155314127C>T	ENST00000460012.1	-	3	387	c.30G>A	c.(28-30)atG>atA	p.M10I	PLCH1_ENST00000494598.1_Missense_Mutation_p.M28I|PLCH1_ENST00000414191.1_Missense_Mutation_p.M10I|PLCH1_ENST00000340059.7_Missense_Mutation_p.M28I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M10I|PLCH1_ENST00000447496.2_Missense_Mutation_p.M28I			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	28					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGCTTGATCATCTGTGTCC	0.507000													41	69					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103348	38103348	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38103348G>A	ENST00000592533.1	+	5	1499	c.1167G>A	c.(1165-1167)ggG>ggA	p.G389G	ZNF540_ENST00000589117.1_Silent_p.G357G|ZNF540_ENST00000343599.5_Silent_p.G389G|ZNF540_ENST00000316433.4_Silent_p.G389G	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGAGTGTGGGAAATCATTTA	0.363000													48	91					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124932	106124932	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:106124932G>A	ENST00000329625.5	+	0	244				DAOA_ENST00000375936.3_Missense_Mutation_p.G60E|DAOA-AS1_ENST00000448407.1_RNA			P59103	DAOA_HUMAN	D-amino acid oxidase activator							Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGGAAAGAAGGATGGAAGAGA	0.408000													7	44					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:105405031C>T	ENST00000351513.2	-	8	1556	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000													121	221					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713453	218713453	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:218713453G>A	ENST00000171887.4	-	17	1864	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000430930.1_Missense_Mutation_p.S471L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	471						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)		GGGCACAGCCGAGCCCCCTGC	0.632000													45	112					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7378879	7378879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7378879G>A	ENST00000502583.1	-	4	1222	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000379918.4_Missense_Mutation_p.P220S|CAGE1_ENST00000338150.4_Missense_Mutation_p.P220S|CAGE1_ENST00000296742.7_Missense_Mutation_p.P84S|CAGE1_ENST00000512086.1_Missense_Mutation_p.P220S	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	220										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GGTTGGCTAGGGTTGAGGGCA	0.408000													74	257					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174086	74174086	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74174086G>A	ENST00000300504.2	+	3	353	c.270G>A	c.(268-270)agG>agA	p.R90R	TBC1D21_ENST00000535547.2_Silent_p.R54R|TBC1D21_ENST00000562056.1_Silent_p.R90R	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	90	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACAGCATGAGGAGGTAGAACA	0.607000													12	35					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789789	248789789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248789789G>A	ENST00000330803.2	-	1	702	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GAGGGAGTAGGAAGTGGAGAT	0.493000													72	43					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4895076	4895076	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:4895076G>A	ENST00000321919.9	-	3	230	c.155_splice	c.e3+1	p.H52_splice	GLYR1_ENST00000381983.3_Splice_Site_p.H52_splice|GLYR1_ENST00000591451.1_Splice_Site_p.H52_splice|GLYR1_ENST00000436648.5_Splice_Site_p.H52_splice	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	52	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACTACTCACTGATCTTCTGTT	0.418000													56	170					0	0	1	0	0
TVP23B	51030	broad.mit.edu	37	17	18702241	18702241	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18702241C>T	ENST00000476139.1	+	5	1671	c.255C>T	c.(253-255)ttC>ttT	p.F85F	TVP23B_ENST00000574226.1_Silent_p.F149F|TVP23B_ENST00000581733.1_Silent_p.F85F|TVP23B_ENST00000307767.8_Silent_p.F149F					trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		TCTTCTCCTTCAGAGTAAAGT	0.388000													52	112					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083833	17083833	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:17083833C>T	ENST00000455405.2	-	0	755																											GATTCTAATTCCTTTCAGGAC	0.572000													3	35					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892219	38892219	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38892219G>A	ENST00000302328.3	-	25	4278	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	SCN11A_ENST00000444237.2_Silent_p.F1360F|SCN11A_ENST00000456224.3_Silent_p.F1322F|SCN11A_ENST00000450244.1_Silent_p.F1360F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1360					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1360F(1)		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)	TGACTATGTCGAACACGAGAC	0.313000													29	70					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29455150	29455150	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29455150C>T	ENST00000216071.4	-	3	504	c.453G>A	c.(451-453)gaG>gaA	p.E151E		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	151										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TTAGTTTTTTCTCCTTTGAAC	0.478000													69	110					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239716	134239716	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:134239716C>T	ENST00000250160.6	+	5	973	c.867C>T	c.(865-867)ggC>ggT	p.G289G	WISP1_ENST00000519433.1_Silent_p.G44G|WISP1_ENST00000220856.6_Silent_p.G202G|WISP1_ENST00000517423.1_Silent_p.L138L|WISP1_ENST00000377863.2_Silent_p.G117G	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	289	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CACTTGCGGGCTGCATCAGCA	0.522000													43	107					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58830561	58830561	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:58830561G>A	ENST00000414170.3	+	3	405	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	LIPC_ENST00000433326.2_Missense_Mutation_p.E40K|LIPC_ENST00000356113.6_Missense_Mutation_p.E40K|LIPC_ENST00000299022.5_Missense_Mutation_p.E40K			P11150	LIPC_HUMAN	lipase, hepatic	40					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCAAGCTGTTGAAACAAACAA	0.468000													54	163					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167705044	167705044	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167705044G>A	ENST00000230256.3	+	1	242	c.67G>A	c.(67-69)Gga>Aga	p.G23R	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G23R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	23						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TACAGCCTATGGAGGTCTGCA	0.463000													5	133					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735289	101735289	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101735289G>A	ENST00000506729.1	-	10	1955	c.1784C>T	c.(1783-1785)tCt>tTt	p.S595F	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S595F|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S533F|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S342F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S342F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	595						integral to membrane|plasma membrane	transporter activity			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)		TGGTACACCAGAAAAACCAGA	0.308000													23	67					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004401	57004401	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57004401G>A	ENST00000606794.1	-	1	274	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	26						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGGCCCCCGAGGATTTCCAGT	0.577000													55	138					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783333	33783333	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:33783333G>A	ENST00000403687.3	+	16	2375	c.1635G>A	c.(1633-1635)agG>agA	p.R545R	RASGRP3_ENST00000407811.1_Silent_p.R544R|RASGRP3_ENST00000402538.3_Silent_p.R545R|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	545					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGCCTGCAGGAGATTTGCCC	0.552000													3	24					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431793	89431793	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:89431793G>A	ENST00000532352.1	+	0	2075							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACTCTGTATTGAATTTGTGTG	0.328000													13	36					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133880386	133880386	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133880386C>T	ENST00000220616.4	+	2	134	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	TG_ENST00000377869.1_Missense_Mutation_p.R32C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	32	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGCCCCTTCGTCCCTGTGA	0.547000													34	77					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236390021	236390021	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:236390021C>T	ENST00000354619.5	-	11	932	c.731G>A	c.(730-732)aGa>aAa	p.R244K		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	244					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATAGAAGACTCTTTTCTCCAG	0.318000													5	167					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23826113	23826113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:23826113G>A	ENST00000264867.2	-	6	895	c.776C>T	c.(775-777)tCt>tTt	p.S259F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	259					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGAGGAAGAGATAAAGTTGT	0.348000													111	207					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080227	18080227	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:18080227C>T	ENST00000539092.1	+	5	1362	c.671C>T	c.(670-672)tCc>tTc	p.S224F	NAT1_ENST00000545197.1_Missense_Mutation_p.S286F|NAT1_ENST00000535084.1_Missense_Mutation_p.S224F|NAT1_ENST00000517492.1_Missense_Mutation_p.S224F|NAT1_ENST00000520546.1_Missense_Mutation_p.S224F|NAT1_ENST00000541942.1_Missense_Mutation_p.S224F|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Missense_Mutation_p.S224F|NAT1_ENST00000518029.1_Missense_Mutation_p.S224F	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	224					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TCATTTTGTTCCTTGCAGACC	0.398000													41	59					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198671603	198671603	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:198671603G>A	ENST00000367376.2	+	6	692	c.521G>A	c.(520-522)aGc>aAc	p.S174N	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.S176N|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	174					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						GCACACCACAGCTCTGCTGCC	0.522000													124	339					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110865168	110865168	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110865168T>C	ENST00000265171.5	+	4	1125	c.680T>C	c.(679-681)cTt>cCt	p.L227P	EGF_ENST00000509793.1_Missense_Mutation_p.L227P|EGF_ENST00000503392.1_Missense_Mutation_p.L227P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	227					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGCAATTCTCTTATTTGCTCC	0.373000													4	75					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630838	140630838	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:140630838G>A	ENST00000520439.1	-	2	851	c.788C>T	c.(787-789)tCc>tTc	p.S263F	KCNK9_ENST00000303015.1_Missense_Mutation_p.S263F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	263						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCGGCGAGGGATGCCCTCTC	0.637000													36	88					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833360	11833360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11833360C>T	ENST00000262442.3	+	63	12123	c.12055C>T	c.(12055-12057)Ccc>Tcc	p.P4019S	DNAH9_ENST00000396001.2_Missense_Mutation_p.P331S|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4019	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAATGAGCCCCCCACGGGCAT	0.597000													13	53					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36047338	36047338	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36047338C>T	ENST00000560016.1	-	8	1725	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000427275.2_Missense_Mutation_p.G440E|HNF1B_ENST00000561193.1_3'UTR			P35680	HNF1B_HUMAN	HNF1 homeobox B	0					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAAACAGGGTCCTTGTTGTTG	0.567000													24	75					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240016696	240016696	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:240016696G>A	ENST00000541256.1	-	15	2273	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	HDAC4_ENST00000543185.1_Intron|HDAC4_ENST00000345617.3_Intron			P56524	HDAC4_HUMAN	histone deacetylase 4	0	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACATTAAAGGAACACTTACC	0.557000													9	192					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315247	99315247	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99315247C>T	ENST00000336374.2	-	5	336	c.334G>A	c.(334-336)Gga>Aga	p.G112R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	112					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTCATAAATCCCACTGGCCCG	0.428000													33	67					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1565047	1565047	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1565047G>A	ENST00000572621.1	-	25	4325	c.4060C>T	c.(4060-4062)Cgt>Tgt	p.R1354C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1354C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1354						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTCCTGAACGAAAGTGTGTG	0.448000													41	59					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099984	50099984	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50099984C>T	ENST00000418929.2	+	4	2404	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	489							DNA binding	p.Q800fs*26(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTCCGCCTCCCCCCCAGCT	0.721000													17	34					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7979497	7979497	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7979497C>T	ENST00000319144.4	-	11	1788	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	510	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCTCACTTCTCCAGTGCATTC	0.572000										Multiple Myeloma(8;0.094)			26	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425194	179425194	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179425194C>G	ENST00000589042.1	-	326	85889	c.85665G>C	c.(85663-85665)acG>acC	p.T28555T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T19615T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T26914T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T25987T|TTN_ENST00000460472.2_Silent_p.T19490T|TTN_ENST00000342175.6_Silent_p.T19682T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26914	Ig-like 132.						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)			TTTCCAAAGACGTGGGTGGAC	0.393000													18	29					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11003023	11003023	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:11003023G>A	ENST00000324288.8	+	12	2928	c.2795G>A	c.(2794-2796)gGa>gAa	p.G932E	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Missense_Mutation_p.G348E	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	932					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAAGACCTGGGAAAGCTTGTG	0.542000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								25	74					0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084270	13084270	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13084270C>T	ENST00000317060.2	+	2	571	c.392C>T	c.(391-393)tCt>tTt	p.S131F	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	131	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CATTGCTCCTCTCTCTACATC	0.622000													52	114					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446428	169446428	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169446428G>A	ENST00000236137.5	-	2	1008	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	258					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATATTTAGAGGGATTTTTGAC	0.483000													52	182					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73198711	73198711	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73198711G>A	ENST00000272433.2	-	11	859	c.729C>T	c.(727-729)atC>atT	p.I243I	SFXN5_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	243					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GTCGGGCTGCGATCTTGGAGG	0.597000													23	36					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248637188C>T	ENST00000359594.2	+	1	562	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTAGGAAAATCCTGAGTTTTT	0.522000													79	60					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13541750	13541750	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:13541750C>T	ENST00000396898.2	-	3	475	c.476G>A	c.(475-477)gGc>gAc	p.G159D	BEND7_ENST00000341083.3_Intron|BEND7_ENST00000396900.2_Intron|BEND7_ENST00000378605.3_Missense_Mutation_p.G107D			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	150							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCCATGAGAGCCTTCTGAATG	0.443000													33	92					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21036450G>A	ENST00000381545.3	+	13	1815	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.R532R|SLCO1B3_ENST00000261196.2_Silent_p.R532R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000													35	74					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312876	120312876	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120312876C>T	ENST00000397843.2	+	15	1433	c.1267C>T	c.(1267-1269)Ctt>Ttt	p.L423F	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L404F|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L320F	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	423	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCGCATCTTCCTTGAGTTTCA	0.383000			T	MLL	AML								4	36					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98236587	98236587	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:98236587C>T	ENST00000284049.3	-	6	936	c.787G>A	c.(787-789)Gtt>Att	p.V263I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	263					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGTTGAGGAACATCCTCTCCA	0.378000													47	73					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6966249	6966249	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:6966249G>A	ENST00000389658.3	-	49	7040	c.6947C>T	c.(6946-6948)tCt>tTt	p.S2316F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2316	Laminin G-like 2.				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)	CTCCACGACAGAGTACCCACT	0.463000													25	29					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100675781	100675781	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:100675781G>A	ENST00000375119.3	-	3	387	c.311C>T	c.(310-312)cCt>cTt	p.P104L	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	104					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ATTCAGCCTAGGAGGCTGCAC	0.423000													35	79					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270413	113270413	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113270413G>A	ENST00000303941.3	+	8	1816	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	574							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAAATACCTGATCTGCAAGA	0.627000													12	17					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360527	20360527	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20360527G>A	ENST00000396134.2	-	4	318	c.195C>T	c.(193-195)tgC>tgT	p.C65C	UMOD_ENST00000302509.4_Silent_p.C32C|UMOD_ENST00000570689.1_Silent_p.C32C|UMOD_ENST00000396142.2_Silent_p.C32C|UMOD_ENST00000396138.4_Silent_p.C81C|UMOD_ENST00000424589.1_Silent_p.C65C	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	32	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACATTCAGAGCACCATCCTG	0.587000													17	26					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101030	27101030	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27101030C>T	ENST00000359193.2	+	1	199	c.180C>T	c.(178-180)acC>acT	p.T60T		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	60					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						AGTACCTGACCGCCGAGATCC	0.682000													47	160					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25337195	25337195	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25337195C>T	ENST00000546682.1	+	0	969				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AAGGACTTCTCTTTGTGAGGC	0.552000													8	11					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235853	106235853	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106235853C>T	ENST00000390551.2	-	0	853																											TCATCTCCTCCCGGGATGGGG	0.642000													5	285					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097640	11097640	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11097640G>A	ENST00000470054.1	-	0	229									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gacaatgccagaaaaacctac	0.567000													8	119					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414498	48414498	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48414498C>T	ENST00000249598.1	-	2	529	c.370G>A	c.(370-372)Gag>Aag	p.E124K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	124					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGGAAGTCCTCTGTGGCAGTT	0.507000													21	51					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811746	7811746	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:7811746C>T	ENST00000381059.3	+	3	529	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	VCX_ENST00000341408.4_Silent_p.L104L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	104	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GCACGACCCCCTGAGTCAGGA	0.677000													23	83					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432805	47432805	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47432805C>T	ENST00000285039.7	-	19	2697	c.2398G>A	c.(2398-2400)Gga>Aga	p.G800R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	800	IQ 2.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCAGGTGTCCCCGGCAGTAC	0.582000													17	55					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56247769C>T	ENST00000545221.1	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000													65	168					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36103431	36103431	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:36103431G>A	ENST00000378660.1	+	5	605	c.416_splice	c.e5-1	p.R139_splice	CHDC2_ENST00000313548.4_Splice_Site_p.R139_splice					calponin homology domain containing 2																		TTTCTCATAGGGATGTATATA	0.303000													48	23					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216534	98216534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98216534G>A	ENST00000427338.1	+	1	87	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATGGTTGAAGAAAATCATAC	0.368000													47	81					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772595	4772595	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:4772595C>T	ENST00000378191.4	+	2	1046	c.665C>T	c.(664-666)aCc>aTc	p.T222I	AJAP1_ENST00000378190.3_Missense_Mutation_p.T222I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	222	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccaccaccaccacg	0.622000													9	52					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791419	95791419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95791419G>A	ENST00000260766.3	+	2	1250	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E206K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	206					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TACCCTATCAGAAAACTTAAT	0.408000													30	70					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512677	70512677	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70512677G>A	ENST00000503640.1	-	1	741	c.686C>T	c.(685-687)tCa>tTa	p.S229L	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S229L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S229L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S229L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	229					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGAATCCCATGATTTCCAAAG	0.328000													26	62					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239206	170239206	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:170239206C>T	ENST00000518525.1	+	11	1731	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	GABRP_ENST00000265294.4_Missense_Mutation_p.P423S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	423						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTACTGTTTCCTTTGATTTT	0.353000													32	100					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792860	169792860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169792860C>T	ENST00000263817.6	-	22	2818	c.2694G>A	c.(2692-2694)tgG>tgA	p.W898*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	898	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGCTCAGCTTCCAGCTAAAGG	0.502000													39	79					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371245	31371245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31371245C>T	ENST00000268296.4	+	7	687	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S189F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	189	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCCAGTTTTCCCTGATGCAG	0.572000													44	83					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647831	125647831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:125647831G>A	ENST00000358524.3	-	3	188	c.143C>T	c.(142-144)tCc>tTc	p.S48F	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	48						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CAGGGAGCAGGATGTCATGAC	0.403000													19	18					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43904693	43904693	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43904693C>T	ENST00000562955.1	+	47	6550	c.6550C>T	c.(6550-6552)Cta>Tta	p.L2184L	SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Silent_p.L1342L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2241						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCATGGTACCTACGGCAGAA	0.577000													73	120					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31340111	31340111	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:31340111A>C	ENST00000542188.1	-	13	1968	c.1655T>G	c.(1654-1656)cTg>cGg	p.L552R	TRPM1_ENST00000397795.2_Missense_Mutation_p.L513R|TRPM1_ENST00000256552.6_Missense_Mutation_p.L535R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	513					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATCCCTCACCAGCAGATGAAG	0.408000													36	107					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809818	31809818	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31809818G>A	ENST00000446923.2	+	7	1898	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	ZEB1_ENST00000320985.10_Missense_Mutation_p.D519N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D499N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D520N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D452N|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	519					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTCTGAGAAGGACAAAAGCTT	0.368000													44	89					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39315936	39315936	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39315936G>A	ENST00000263408.4	-	6	906	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	271	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TATGAAAACCGAAAACTACCC	0.323000													30	174					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121675722	121675722	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:121675722G>A	ENST00000264808.3	-	14	1849	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Missense_Mutation_p.R506C|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	537					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGTGAGTACGAATGTGCATC	0.313000													18	33					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733418	106733418	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106733418G>A	ENST00000390610.2	-	0	136																											CTCAGCCCCAGACTGTACCAG	0.587000													94	141					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457583	57457583	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57457583C>T	ENST00000287169.3	+	5	1827	c.465C>T	c.(463-465)tcC>tcT	p.S155S	ZDHHC5_ENST00000527985.1_Silent_p.S102S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	155						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCCTCCTTTCCCTGACAGCCC	0.493000													20	179					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74486149	74486149	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74486149C>T	ENST00000323940.5	-	8	957	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	STRA6_ENST00000449139.2_Missense_Mutation_p.G238S|STRA6_ENST00000535552.1_Missense_Mutation_p.G275S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G229S|STRA6_ENST00000563965.1_Missense_Mutation_p.G277S|STRA6_ENST00000416286.3_Missense_Mutation_p.G230S|STRA6_ENST00000574278.1_Missense_Mutation_p.G253S|STRA6_ENST00000395105.4_Missense_Mutation_p.G238S	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	238					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ACCTTGGAGCCTGCTCCTGTC	0.617000													51	111					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824379	54824379	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:54824379G>A	ENST00000243911.2	+	1	592	c.480G>A	c.(478-480)aaG>aaA	p.K160K		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	197					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCGTGAGGAAGGCCCTCACCT	0.587000													5	195					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113760188	113760188	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:113760188T>C	ENST00000375581.3	+	1	68	c.33T>C	c.(31-33)ctT>ctC	p.L11L	F7_ENST00000346342.3_Silent_p.L11L|F7_ENST00000541084.1_Silent_p.L26L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	11					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TCCTCTGCCTTCTGCTTGGGC	0.602000													6	5					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6637105	6637105	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6637105G>A	ENST00000333172.6	+	5	1762	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	TAS1R1_ENST00000351136.3_Silent_p.G269G|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	523					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCCTGTGGGGCTGGGACCT	0.612000													20	57					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107849893	107849893	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107849893G>A	ENST00000379028.3	-	12	1517	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	NRCAM_ENST00000379024.4_Silent_p.I330I|NRCAM_ENST00000425651.2_Silent_p.I349I|NRCAM_ENST00000351718.4_Silent_p.I343I|NRCAM_ENST00000413765.2_Silent_p.I330I|NRCAM_ENST00000379022.4_Silent_p.I349I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	349	Ig-like 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGGTATGGTGGATGGCTCCTA	0.343000													41	138					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110534454	110534454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110534454C>T	ENST00000378402.5	+	74	12175	c.12071C>T	c.(12070-12072)tCt>tTt	p.S4024F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4024					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ATTGCTGGTTCTCTTGGACAA	0.383000										HNSCC(38;0.096)			20	41					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612166	44612166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44612166C>T	ENST00000273320.3	+	6	1993	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.P522S|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TGGTAAGAAACCTTACAAATG	0.448000													68	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413359	179413359	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179413359C>T	ENST00000589042.1	-	339	93218	c.92994G>A	c.(92992-92994)gtG>gtA	p.V30998V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V22058V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V29357V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V28430V|TTN_ENST00000460472.2_Silent_p.V21933V|TTN_ENST00000342175.6_Silent_p.V22125V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29357	Fibronectin type-III 126.						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)			TGTTGTTTTCCACAGTAAGGG	0.473000													75	192					0	0	1	0	0
SNORD3B-2	780852	broad.mit.edu	37	17	18967367	18967367	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18967367C>T	ENST00000364880.1	-	0	82																											tacctctcttcctcggggttt	0.493000													20	98					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42052982	42052982	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42052982C>T	ENST00000359308.4	+	9	2022	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	XRCC6_ENST00000428575.2_Missense_Mutation_p.P323L|XRCC6_ENST00000360079.3_Missense_Mutation_p.P456L|XRCC6_ENST00000402580.3_Missense_Mutation_p.P415L|XRCC6_ENST00000405506.1_Missense_Mutation_p.P406L|XRCC6_ENST00000405878.1_Missense_Mutation_p.P456L			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	456	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.A454fs*7(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						ATGGCAACTCCAGAGCAGGTG	0.433000								Non-homologous end-joining					20	73					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111659	140111659	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:140111659C>T	ENST00000275874.5	+	4	526	c.328C>T	c.(328-330)Cct>Tct	p.P110S	RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GACTCTCCTTCCTGTCCTTCT	0.527000													13	133					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948679	198948679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:198948679G>A	ENST00000428675.1	+	2	836	c.438G>A	c.(436-438)tgG>tgA	p.W146*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.W48*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	146	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTCTTCGCTGGGAACCTTCAA	0.448000													30	40					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331475	42331475	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42331475C>T	ENST00000217026.4	+	8	1424	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	MYBL2_ENST00000396863.4_Silent_p.L409L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTGTCCTTCCTGGATTCCTG	0.607000													35	87					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489373	133489373	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133489373G>A	ENST00000409261.1	-	17	5753	c.5380C>T	c.(5380-5382)Ccc>Tcc	p.P1794S	NCKAP5_ENST00000409213.1_Missense_Mutation_p.P475S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P475S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1794S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1794							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTCATGATGGGGTCGGATGTG	0.537000													22	59					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526025	176526025	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176526025G>C	ENST00000367662.3	+	2	1731	c.567G>C	c.(565-567)agG>agC	p.R189S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R189S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	189					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						AGACCCAAAGGAGGGGCTGGG	0.587000													117	162					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48158182	48158182	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:48158182C>T	ENST00000311303.3	-	10	1874	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	ABCC12_ENST00000416054.1_Missense_Mutation_p.G510E|ABCC12_ENST00000448542.1_Missense_Mutation_p.G510E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	510	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCACATATTCCCAAGATCTT	0.507000													16	143					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538735	63538735	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:63538735C>T	ENST00000550760.3	+	4	1487	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TTAAGTGGTTCCCAGACCTGA	0.393000													5	30					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870110	20870110	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20870110C>T	ENST00000381552.1	+	7	1089	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SLCO1C1_ENST00000266509.2_Silent_p.L241L|SLCO1C1_ENST00000545102.1_Silent_p.L123L|SLCO1C1_ENST00000545604.1_Silent_p.L241L|SLCO1C1_ENST00000540354.1_Silent_p.L192L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	241					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTTTGGTTTCCTGTTAGGCTC	0.333000													29	67					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230803	38230803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38230803C>T	ENST00000339503.4	-	8	915	c.414G>A	c.(412-414)ggG>ggA	p.G138G	ZNF573_ENST00000536220.1_Silent_p.G108G|ZNF573_ENST00000392138.1_Silent_p.G109G|ZNF573_ENST00000357309.3_Silent_p.G108G|ZNF573_ENST00000590414.2_Silent_p.G196G	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAAGTTCTTCCCACATTCTG	0.398000													7	148					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34596245	34596245	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:34596245G>A	ENST00000373973.3	+	9	1170	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K					cyclic nucleotide binding domain containing 2																		AAGATTTAAGGAATTCCAGAT	0.403000													8	190					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854906	116854906	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116854906G>A	ENST00000374118.3	-	14	1436	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	533					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCACCTGAGGCCTCAGGGTC	0.652000													4	9					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622312	180622312	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180622312C>T	ENST00000393315.1	-	7	1463	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	TRIM7_ENST00000274773.7_Missense_Mutation_p.A464T|TRIM7_ENST00000393319.3_Missense_Mutation_p.A282T|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.A256T|TRIM7_ENST00000422067.2_Missense_Mutation_p.A256T	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	464						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGGTCCAGGGCCACCCGCACG	0.701000													8	19					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058145	152058145	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152058145C>T	ENST00000368806.1	-	3	2077	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	671							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACCTGTGATCTCTATTTCCA	0.512000													95	237					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188698	98188698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98188698C>T	ENST00000332650.5	+	1	375	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAAAGGATTTCCCTCTATGAA	0.428000													84	206					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47108778	47108778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47108778G>A	ENST00000261292.4	+	7	1361	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	LIPG_ENST00000427224.2_Missense_Mutation_p.M287I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	361	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACAAGAACATGGGAGAAATTG	0.448000													5	96					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480857	27480857	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27480857C>T	ENST00000356183.4	-	32	4844	c.4829G>A	c.(4828-4830)gGc>gAc	p.G1610D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1610D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1610						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCCAGGCTGCCGTCCTTCCC	0.597000													43	101					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31531539	31531539	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:31531539C>T	ENST00000395934.2	+	1	215	c.208C>T	c.(208-210)Cta>Tta	p.L70L	ELP4_ENST00000379163.5_Silent_p.L70L|ELP4_ENST00000350638.5_Silent_p.L70L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	70					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCTCCCAGCCCTAGACCAGCT	0.632000													20	62					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271114	242271114	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:242271114T>G	ENST00000442594.2	-	9	1331	c.822A>C	c.(820-822)aaA>aaC	p.K274N	PLD5_ENST00000536534.1_Missense_Mutation_p.K366N|PLD5_ENST00000427495.1_Missense_Mutation_p.K304N	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	366						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTCTCTTATTTTTGCATCCA	0.348000													12	173					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779140	18779140	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:18779140C>T	ENST00000300976.4	+	3	1023	c.933C>T	c.(931-933)ctC>ctT	p.L311L	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	311										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCTCGCTCGTCACCTTCG	0.677000													26	63					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42546821	42546821	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42546821C>T	ENST00000262895.3	-	11	1355	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	GRIK5_ENST00000593562.1_Silent_p.R452R|GRIK5_ENST00000301218.4_Silent_p.R452R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	452						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGGCCAGCTCCCGCAGCATGT	0.677000													29	63					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24384018	24384018	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24384018C>T	ENST00000330966.7	-	37	4321	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	MYOM3_ENST00000374434.3_Missense_Mutation_p.E1384K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.E277K			Q5VTT5	MYOM3_HUMAN	myomesin 3	1384	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCCCTCACTTCCATGCGGTAT	0.552000													25	55					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704667	109704667	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:109704667C>T	ENST00000356711.2	+	25	2952	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	MYO16_ENST00000357550.2_Silent_p.I942I|MYO16_ENST00000457511.2_Silent_p.I454I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	942	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATGTCGTGATCAATCATTTGT	0.368000													8	89					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71562447	71562447	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71562447G>A	ENST00000356340.3	+	1	804	c.268G>A	c.(268-270)Gga>Aga	p.G90R	COL13A1_ENST00000354547.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G90R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G90R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G90R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G90R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G90R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G90R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	90	Nonhelical region 1 (NC1).				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)	GGCTATTTTGGGACGAGTCAA	0.647000													96	241					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:48248367G>A	ENST00000400384.2	+	4	1787	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E40K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577000													18	45					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168631	64168631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:64168631C>T	ENST00000395391.1	+	4	3324	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373000													24	91					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114804101	114804101	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:114804101G>A	ENST00000310346.4	-	8	1517	c.851C>T	c.(850-852)tCa>tTa	p.S284L	TBX5_ENST00000526441.1_Missense_Mutation_p.S284L|TBX5_ENST00000405440.2_Missense_Mutation_p.S284L|TBX5_ENST00000349716.5_Missense_Mutation_p.S234L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	284					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAATTGGATGAGGTGGAGAG	0.572000													48	87					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008581	142008581	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142008581C>T	ENST00000390387.3	+	0	101																											TTGCAGGTCCCTTGGACACAG	0.458000													14	54					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609428	108609428	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:108609428G>A	ENST00000264047.2	+	4	569	c.292_splice	c.e4-1	p.G98_splice	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Splice_Site_p.G98_splice	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	98					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TAATTTTTAGGTGGCCTGTTC	0.373000													45	95					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103987710	103987710	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103987710C>T	ENST00000348956.2	-	5	900	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	181	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCTGCTCCGCCTCCGTCATGC	0.716000													18	41					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53600101	53600101	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:53600101C>T	ENST00000371494.4	-	2	263	c.135_splice	c.e2-1	p.E46_splice	SLC1A7_ENST00000371491.4_Splice_Site_p.E46_splice	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	46						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TAACTAATTTCCTGAAAACAC	0.498000													7	18					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74644071	74644071	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74644071C>T	ENST00000536019.1	+	7	1207	c.762C>T	c.(760-762)ttC>ttT	p.F254F	MCU_ENST00000357157.6_Silent_p.F282F|MCU_ENST00000373053.3_Silent_p.F303F|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	303					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TACTATTTTTCCATAAAGGAG	0.323000													7	99					0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36883802	36883802	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36883802C>T	ENST00000356637.5	-	11	1171	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Missense_Mutation_p.E360K|OSCP1_ENST00000433045.2_Missense_Mutation_p.E315K			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	370					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CTTGGCTGCTCCGTGATCTCA	0.572000													14	37					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61192413	61192413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:61192413C>T	ENST00000317995.4	-	2	391	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	43					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCATTAGCATCAGGAAACACC	0.373000													13	37					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357101	10357101	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10357101C>T	ENST00000255381.2	-	23	2903	c.2793G>A	c.(2791-2793)gaG>gaA	p.E931E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	931					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CTTCCTCATCCTCAGCTCTTT	0.438000													122	245					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134975	153134975	+	Splice_Site	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153134975G>C	ENST00000370060.1	-	11	1456	c.1267_splice	c.e11+1	p.Q423_splice	L1CAM_ENST00000370057.3_Splice_Site_p.Q423_splice|L1CAM_ENST00000538883.1_Splice_Site_p.Q425_splice|L1CAM_ENST00000361981.3_Splice_Site_p.Q418_splice|L1CAM_ENST00000370055.1_Splice_Site_p.Q418_splice|L1CAM_ENST00000361699.4_Splice_Site_p.Q423_splice|L1CAM_ENST00000543994.1_Splice_Site_p.Q425_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	423					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)					GGGCACTCACGGACAACGTAG	0.612000													13	4					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540229	133540229	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133540229C>T	ENST00000409261.1	-	14	4528	c.4155G>A	c.(4153-4155)aaG>aaA	p.K1385K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.K1385K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1385							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTCTTCCTTTCCAGGTG	0.602000													24	50					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46345931	46345931	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46345931G>A	ENST00000339464.4	-	2	541	c.167C>T	c.(166-168)cCc>cTc	p.P56L	WNT7B_ENST00000409496.3_Missense_Mutation_p.P60L|WNT7B_ENST00000410089.1_Missense_Mutation_p.P40L|WNT7B_ENST00000410058.1_Missense_Mutation_p.P56L	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	56					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GATGGCATCGGGCCGACTCTG	0.627000													36	49					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170175275	170175275	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170175275A>T	ENST00000263816.3	-	3	592	c.307T>A	c.(307-309)Tgc>Agc	p.C103S	LRP2_ENST00000443831.1_Missense_Mutation_p.C103S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	103	LDL-receptor class A 2.		C -> R (found in a renal cell carcinoma sample; somatic mutation).		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.C103R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTACAGCAATCTTGACGT	0.453000													8	101					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830966	61830966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61830966C>T	ENST00000280772.1	-	37	9864	c.9673G>A	c.(9673-9675)Gaa>Aaa	p.E3225K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3225					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.E3225K(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTGCTGTTTCCTCCACTGTA	0.478000													58	132					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321716	106321716	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106321716G>A	ENST00000390559.2	-	0	517																											GTAGGTCGTGGGCCCAGACTC	0.632000													24	30					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35601521	35601521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:35601521G>A	ENST00000353139.5	-	21	3206	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S	ACACA_ENST00000394406.2_Missense_Mutation_p.P872S|ACACA_ENST00000335166.5_Missense_Mutation_p.P794S|ACACA_ENST00000360679.3_Missense_Mutation_p.P814S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	872					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTAAAGAAAGGATCTGGAAGG	0.438000													5	134					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362835	40362835	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40362835C>T	ENST00000221347.6	-	32	15242	c.15235G>A	c.(15235-15237)Gac>Aac	p.D5079N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5079						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)			GCGCACAGGTCGTATACGCAT	0.672000													72	186					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2633988	2633988	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2633988C>T	ENST00000329276.5	+	3	673	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	53					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGCCTTTTGTCCCTTTGCCTC	0.552000													74	187					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109689861	109689861	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109689861G>A	ENST00000338432.7	+	42	5920	c.5801G>A	c.(5800-5802)cGa>cAa	p.R1934Q	ACACB_ENST00000377848.3_Missense_Mutation_p.R1934Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1864Q|ACACB_ENST00000543201.1_Missense_Mutation_p.R600Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1934	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTGACCTGCCGAGCCATTGGG	0.602000													7	20					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880274	101880274	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101880274A>T	ENST00000551346.1	+	6	631	c.472A>T	c.(472-474)Aaa>Taa	p.K158*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.K158*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GGGGAAAAGAAAAGGCAACAG	0.423000													49	74					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1097181	1097181	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1097181G>A	ENST00000441003.2	+	35	6624		c.e35-1		MUC2_ENST00000361558.6_Splice_Site	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTCGGCCACAGGTGCAGGTGA	0.627000													9	64					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49217128	49217128	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:49217128C>T	ENST00000332408.4	-	2	1032	c.604G>A	c.(604-606)Gtg>Atg	p.V202M		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	202	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GATTGCAGCACTTCAACACAG	0.408000													35	64					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129454	76129454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76129454C>T	ENST00000296677.4	+	2	1228	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	341					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCATCGACCCCTTTGTCTAT	0.478000													184	437					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681965	142681965	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142681965C>T	ENST00000340634.3	-	1	213	c.214G>A	c.(214-216)Gag>Aag	p.E72K	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	72						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCTAGGCACTCCTGGGCCGTG	0.632000													10	15					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737218	56737218	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56737218G>A	ENST00000314128.4	-	24	2534	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P	STAT2_ENST00000557235.1_Silent_p.P833P|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	837					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGAAGTGGCTGGGGCGGGAGA	0.483000													23	60					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644097	117644097	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:117644097C>T	ENST00000369466.3	+	23	3484	c.3440C>T	c.(3439-3441)tCt>tTt	p.S1147F	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1147	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTGGAGAATCTGTCACCAAG	0.423000													105	237					0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644447	644447	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:644447G>T	ENST00000246104.6	-	2	1369	c.792C>A	c.(790-792)gcC>gcA	p.A264A	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGTGCTTGAAGGCCGAGTGCG	0.687000													4	13					5.9392e-07	5.96554e-07	1	1	0
SIX6	4990	broad.mit.edu	37	14	60976662	60976662	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:60976662G>A	ENST00000327720.5	+	1	994	c.546G>A	c.(544-546)agG>agA	p.R182R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	182					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GCCGACAAAGGGACCGAGCGG	0.632000													10	24					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639571	97639571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:97639571C>T	ENST00000298440.1	-	4	686	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	OXGR1_ENST00000543457.1_Missense_Mutation_p.R148Q	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	148						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AACTGCACATCGAGTTTTGTG	0.463000													7	43					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237075029	237075029	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:237075029G>A	ENST00000306318.4	-	2	972	c.575C>T	c.(574-576)cCg>cTg	p.P192L	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_Silent_p.P204P	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	192				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P192Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CTTGCCCTTCGGGTCGTCTTC	0.557000													53	126					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	802336	802336	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:802336G>A	ENST00000347755.5	-	6	1176	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PIDD_ENST00000411829.2_Silent_p.F345F	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	345	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTCCCGCTGGGAACTGCAGGC	0.662000													41	28					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21657349	21657349	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21657349C>G	ENST00000328843.6	+	23	4254	c.4223C>G	c.(4222-4224)cCt>cGt	p.P1408R	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1403R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1408	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACAGAGCCCTGCCCTCAGG	0.517000									Kartagener syndrome				5	41					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27741417	27741417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27741417G>A	ENST00000430629.2	-	6	793	c.578C>T	c.(577-579)cCa>cTa	p.P193L	WASF2_ENST00000536657.1_Missense_Mutation_p.P193L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	193					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GATTTTACGTGGGTTTACATT	0.378000													11	134					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64637090	64637090	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:64637090C>T	ENST00000357395.3	+	95	17444	c.6300C>T	c.(6298-6300)ttC>ttT	p.F2100F	SYNE2_ENST00000358025.3_Silent_p.F5715F|SYNE2_ENST00000344113.4_Silent_p.F5715F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.F2100F|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Silent_p.F2349F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5715					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTTCGCTTCCTCACTGACA	0.532000													22	40					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85953803	85953803	+	Silent	SNP	C	C	T	rs148203070		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:85953803C>T	ENST00000268638.5	+	8	1499	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	IRF8_ENST00000562492.1_Silent_p.P155P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	359					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATATGGCCCCCTTGCGCTCCA	0.502000													29	17					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516137	140516137	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140516137C>T	ENST00000231134.5	+	1	1338	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCCAGACTCCGGGGACAAC	0.488000													36	84					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007448	56007448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:56007448C>T	ENST00000429591.2	+	4	1080	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACTGAACATCATAGACTTCA	0.408000													48	116					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3702296	3702296	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:3702296T>A	ENST00000382622.3	+	10	1523	c.1133T>A	c.(1132-1134)tTt>tAt	p.F378Y	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.F369Y	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	378					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)			GACTTGGATTTTAAGGGACAG	0.517000													12	41					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775715	38775715	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:38775715G>A	ENST00000308973.4	-	4	2102	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	TLR10_ENST00000508334.1_Silent_p.F499F|TLR10_ENST00000361424.2_Silent_p.F499F|TLR10_ENST00000506111.1_Silent_p.F499F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	499					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGCTGAGAATGAAGTTCATTT	0.378000													47	106					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604541	57604541	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57604541C>T	ENST00000243077.3	+	83	13261	c.12795C>T	c.(12793-12795)ccC>ccT	p.P4265P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4265	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCACGGGCCCCAAATGCACCC	0.657000													53	89					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7915255	7915255	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:7915255C>T	ENST00000378789.3	-	2	216	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	55	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCAACATTCCGGAGCATCC	0.413000													20	55					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36641854	36641854	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36641854C>T	ENST00000316156.4	+	6	1247	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MAP7D1_ENST00000373151.2_Missense_Mutation_p.T302M|MAP7D1_ENST00000373150.4_Missense_Mutation_p.T302M|MAP7D1_ENST00000474796.1_3'UTR			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	302						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGTCTGATGACGCCCACTCTC	0.687000													21	32					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138440508	138440508	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138440508G>A	ENST00000310018.2	-	10	1024	c.742C>T	c.(742-744)Cct>Tct	p.P248S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P248S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P248S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	248					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGGGCAAGGGTAGACAGTG	0.502000													23	61					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173780340	173780340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:173780340G>T	ENST00000356198.2	-	3	383	c.98C>A	c.(97-99)tCg>tAg	p.S33*	CENPL_ENST00000367710.3_Nonsense_Mutation_p.S33*|CENPL_ENST00000345664.6_Nonsense_Mutation_p.S33*	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	33					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTTCCTGACCGATTCTAATCG	0.458000													47	165					8.94452e-30	9.04901e-30	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596195	58596195	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58596195C>T	ENST00000240727.6	-	7	1789	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E464K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E520K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E328K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TTCTCCTTCTCGTGGGTCTTC	0.706000													12	6					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781711	128781711	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:128781711C>T	ENST00000529694.1	+	2	919	c.543C>T	c.(541-543)ttC>ttT	p.F181F	KCNJ5_ENST00000533599.1_Silent_p.F181F|KCNJ5_ENST00000338350.4_Silent_p.F181F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	181					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCAATGCCTTCATGGTGGGGT	0.537000													5	147					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652161	1652161	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1652161G>A	ENST00000252804.4	-	17	3441	c.3391C>T	c.(3391-3393)Ccc>Tcc	p.P1131S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1131					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCTGCGAGGGCACACGCATT	0.627000													20	59					0	0	1	0	0
NME1	4830	broad.mit.edu	37	17	49237340	49237340	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:49237340G>A	ENST00000511355.1	+	3	212		c.e3-1		NME1_ENST00000336097.3_Splice_Site|NME1_ENST00000013034.3_Splice_Site|NME2_ENST00000555572.1_Splice_Site|NME1_ENST00000480143.1_Splice_Site|NME2_ENST00000393193.2_Splice_Site|NME1_ENST00000393196.3_Splice_Site|NME2_ENST00000376392.6_Splice_Site					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTGTTGAATAGGCTTCCGAAG	0.468000													7	159					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993745	96993745	+	Missense_Mutation	SNP	G	G	A	rs141148427	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96993745G>A	ENST00000361124.4	+	1	1811	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R459Q|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R451Q|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R451Q	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	459						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTTGCTACGGCTGCCCCTC	0.557000													57	126					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369281	20369281	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20369281G>A	ENST00000593655.1	-	0	199																											GGCATAGTACGAAATTGGGAT	0.378000													57	142					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173604	47173604	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:47173604G>A	ENST00000447411.1	-	8	823	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S206F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	206					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AATTCCAACAGACACAAATAT	0.313000													19	42					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916199	62916199	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62916199G>A	ENST00000339950.4	+	9	2720	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	USP1_ENST00000371146.1_Silent_p.V635V	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	635					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CAAGGGGTGTGGTTGAGAATT	0.358000													22	53					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221879678	221879678	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:221879678G>A	ENST00000366899.3	-	3	1180	c.942C>T	c.(940-942)acC>acT	p.T314T	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	314					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CGATGTCAGGGGTGGTGGGGA	0.622000													54	137					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135713	19135713	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19135713G>A	ENST00000601879.1	-	3	1741	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	SUGP2_ENST00000600377.1_Missense_Mutation_p.L496F|SUGP2_ENST00000337018.6_Missense_Mutation_p.L482F|SUGP2_ENST00000456085.2_Missense_Mutation_p.L251F|SUGP2_ENST00000452918.2_Missense_Mutation_p.L482F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	482					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGTCCCAAAAGGGCCAAAGAC	0.522000													108	164					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172358	47172358	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:47172358G>A	ENST00000447411.1	-	10	1125	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	SLC38A4_ENST00000266579.4_Missense_Mutation_p.H307Y	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	307					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCACTGTCATGAAGAGAGCCC	0.478000													38	65					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044640	35044640	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35044640G>A	ENST00000312292.5	+	2	2061	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	C9orf131_ENST00000354479.5_Missense_Mutation_p.E599K|C9orf131_ENST00000421362.2_Missense_Mutation_p.E624K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	672										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCCTGACGGGGAGGCAGTGGA	0.542000													41	71					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876332	18876332	+	Nonsense_Mutation	SNP	G	G	A	rs138801851		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18876332G>A	ENST00000266505.7	-	4	543	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q92*|PLCZ1_ENST00000435379.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	94					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTCAGAAATTGAGCCAGATTA	0.343000													28	54					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454359	110454359	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110454359C>T	ENST00000378402.5	+	35	4432	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1443	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTTTCTGTCTCCAGTCCTGGA	0.423000										HNSCC(38;0.096)			23	58					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89938589	89938589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:89938589C>T	ENST00000389297.4	+	22	2814	c.2563C>T	c.(2563-2565)Ctt>Ttt	p.L855F	C7orf63_ENST00000316089.8_Missense_Mutation_p.L809F|C7orf63_ENST00000497910.1_Missense_Mutation_p.L837F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	855							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGCAAAAAGCCTTCAAGAAAA	0.294000													10	140					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418243	1418243	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1418243C>T	ENST00000345913.4	+	2	154	c.63C>T	c.(61-63)ccC>ccT	p.P21P	TPO_ENST00000337415.3_Silent_p.P21P|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.P21P|TPO_ENST00000539820.1_Silent_p.P21P|TPO_ENST00000382201.3_Silent_p.P21P|TPO_ENST00000382269.3_Silent_p.P21P|TPO_ENST00000349624.3_Silent_p.P21P|TPO_ENST00000346956.3_Silent_p.P21P|TPO_ENST00000382198.1_Silent_p.P21P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	21					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCTTCCCCTTCATCTCGA	0.448000													16	37					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910488	35910488	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35910488C>T	ENST00000397367.2	-	3	421	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	CAPSL_ENST00000514524.1_Missense_Mutation_p.E99K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E99K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	99	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AGAAGAAATTCATTGAAGTCT	0.393000													33	116					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111430816	111430816	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:111430816C>T	ENST00000265162.5	+	5	1389	c.1047C>T	c.(1045-1047)atC>atT	p.I349I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	349					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAGATAAAATCGCTATTCCAG	0.378000													10	89					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183755916	183755916	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183755916A>T	ENST00000382489.3	+	6	768	c.768A>T	c.(766-768)gaA>gaT	p.E256D	HTR3D_ENST00000428798.2_Missense_Mutation_p.E208D|HTR3D_ENST00000334128.2_Missense_Mutation_p.E83D|HTR3D_ENST00000453435.1_Missense_Mutation_p.E37D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	256						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGCCACTGGAAAGTGGGAATT	0.542000													30	92					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857781	57857781	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57857781G>A	ENST00000228682.2	+	3	191		c.e3-1		GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1						epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTTTTTTCTAGGACTGTCTGG	0.542000													128	272					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3551779	3551779	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3551779G>A	ENST00000378322.3	-	7	741	c.683C>T	c.(682-684)tCt>tTt	p.S228F	WRAP73_ENST00000270708.7_Missense_Mutation_p.S228F			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	228						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CCAGGCCACAGACTTGATGCC	0.567000													28	70					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27845065	27845065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:27845065G>A	ENST00000354914.3	-	2	553	c.68C>T	c.(67-69)tCc>tTc	p.S23F	SCARA5_ENST00000301906.4_Missense_Mutation_p.S23F|SCARA5_ENST00000518030.1_Missense_Mutation_p.S23F|SCARA5_ENST00000380385.2_Missense_Mutation_p.S23F|SCARA5_ENST00000524352.1_Missense_Mutation_p.S23F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	23					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCATCAAAGGAATCCTCACA	0.562000													57	138					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168831	117168831	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117168831G>A	ENST00000362057.3	-	9	2208	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	DFNB31_ENST00000374059.3_Silent_p.F329F|DFNB31_ENST00000265134.6_Silent_p.F297F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	680	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACCCGTGGGAAGGGGCCGA	0.677000													37	84					0	0	1	0	0
NXNL1	115861	broad.mit.edu	37	19	17571363	17571363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17571363C>T	ENST00000301944.2	-	1	400	c.316G>A	c.(316-318)Gat>Aat	p.D106N	CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.D13N	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	106	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CTCCTCAGATCATCCTCAAAG	0.572000													24	51					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45708281	45708281	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45708281G>A	ENST00000291582.5	+	5	719	c.592G>A	c.(592-594)Gac>Aac	p.D198N		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	198	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GTCCTCCGGGGACGTCCCGGG	0.632000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				50	89					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087637	3087637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3087637G>A	ENST00000602557.1	-	28	4828	c.4273C>T	c.(4273-4275)Caa>Taa	p.Q1425*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1425*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1425*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q1425*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1425	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTGTCCTTGGAGCTGATAG	0.502000													25	42					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138850	64138850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64138850C>T	ENST00000528057.1	+	17	2284	c.2196C>T	c.(2194-2196)acC>acT	p.T732T	RPS6KA4_ENST00000294261.4_Silent_p.T491T|RPS6KA4_ENST00000334205.4_Silent_p.T739T	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	739					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GGAGCGCCACCGCCTCCCGCC	0.736000													7	77					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214053	140214053	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140214053G>A	ENST00000525929.1	+	1	85	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	PCDHA7_ENST00000378125.3_Missense_Mutation_p.G29S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGGAGAGGCCAGCTCCA	0.587000													80	108					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333086	70333086	+	Silent	SNP	G	G	A	rs141260875		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:70333086G>A	ENST00000338508.4	-	32	3314	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	SHANK2_ENST00000423696.2_Silent_p.S725S|SHANK2_ENST00000409161.1_Silent_p.S508S|SHANK2_ENST00000449833.2_Silent_p.S509S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	725					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCAGGTCTGTGGAGAGGAAGG	0.701000													37	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426896	179426896	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179426896C>T	ENST00000589042.1	-	326	84187	c.83963G>A	c.(83962-83964)gGa>gAa	p.G27988E	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19048E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26347E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25420E|TTN_ENST00000460472.2_Missense_Mutation_p.G18923E|TTN_ENST00000342175.6_Missense_Mutation_p.G19115E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26347							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)			TTGAGGTCTTCCTTTGAATGG	0.373000													9	31					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333232	70333232	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:70333232C>T	ENST00000338508.4	-	32	3168	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	SHANK2_ENST00000423696.2_Missense_Mutation_p.D677N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D460N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D461N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	677					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGGGGGTCGATCTCCATG	0.692000													58	117					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88479925	88479925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:88479925G>A	ENST00000552810.1	-	34	4671	c.4328C>T	c.(4327-4329)cCt>cTt	p.P1443L	CEP290_ENST00000397838.3_Missense_Mutation_p.P503L|CEP290_ENST00000547691.2_Missense_Mutation_p.P503L|CEP290_ENST00000309041.7_Missense_Mutation_p.P1445L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1443					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ACTAGGGTCAGGGATTGATCC	0.353000													16	53					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862275	5862275	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5862275G>A	ENST00000329322.5	-	1	852	c.853C>T	c.(853-855)Cct>Tct	p.P285S	OR52E6_ENST00000379946.2_Missense_Mutation_p.P289S|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P289S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGGGAGGAACAACCACA	0.408000													41	36					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53025833	53025833	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53025833C>T	ENST00000276480.7	-	26	3752	c.3069G>A	c.(3067-3069)ctG>ctA	p.L1023L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1023						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)				AGTCCCGTTCCAGATTGCTGT	0.453000													43	85					0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162353431	162353431	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:162353431C>T	ENST00000458626.2	+	2	949	c.777C>T	c.(775-777)ctC>ctT	p.L259L	C1orf226_ENST00000426197.2_Silent_p.L302L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	259								p.L302L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCCAGCCTCGACAATGAGG	0.587000													13	20					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42874323	42874323	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42874323C>T	ENST00000025301.2	+	8	1616	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	481					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCATGAAAATCATGATTCTGT	0.388000													48	106					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119915	142119915	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142119915G>A	ENST00000390377.1	-	0	251																											TCTCTGCAGAGAACCGATCAC	0.542000													39	177					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45427437	45427437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45427437G>A	ENST00000321429.4	+	6	850	c.443G>A	c.(442-444)aGa>aAa	p.R148K	DUOX1_ENST00000389037.3_Missense_Mutation_p.R148K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	148	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCCTTCCAGAGAAGCCGCTGG	0.721000													12	57					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126778722	126778722	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:126778722C>T	ENST00000274473.6	+	20	2662	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	MEGF10_ENST00000503335.2_Missense_Mutation_p.R799C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	799	EGF-like 15.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTATGGCTGTCGCCAGATATG	0.502000													33	59					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150813919	150813919	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150813919C>T	ENST00000397238.2	+	2	371	c.371C>T	c.(370-372)tCc>tTc	p.S124F	AGAP3_ENST00000479901.1_Missense_Mutation_p.S124F|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.S124F|AGAP3_ENST00000335367.3_Missense_Mutation_p.S304F|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	88	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTGAGCCGCTCCGTACCGGAG	0.677000													66	183					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135596255	135596255	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135596255G>A	ENST00000356140.5	+	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	1					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CTGTGGAGATGAAAATTGACA	0.348000													32	44					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003543	50003543	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:50003543G>A	ENST00000335238.4	-	1	528	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGCCACAGAAGGGCAGCCATA	0.478000													86	133					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743174	1743174	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:1743174A>T	ENST00000381241.3	+	3	456	c.257A>T	c.(256-258)aAc>aTc	p.N86I	ASMT_ENST00000381229.4_Missense_Mutation_p.N86I|ASMT_ENST00000381233.3_Missense_Mutation_p.N86I	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	86					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCTATCGAAACACAGAGCTG	0.552000													238	133					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097193	53097193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53097193G>A	ENST00000341809.3	-	1	54	c.26C>T	c.(25-27)tCc>tTc	p.S9F	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	9	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTAAACGCGGACTGAGAACT	0.542000													26	64					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241032153	241032153	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:241032153C>T	ENST00000366565.1	-	8	832		c.e8-1		RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000401882.1_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000407727.1_Splice_Site|RGS7_ENST00000366562.4_Splice_Site	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7						G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCAGGCTCTCCTGAAAAACAT	0.458000													64	118					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500416	119500416	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:119500416G>A	ENST00000218008.3	+	2	157	c.100G>A	c.(100-102)Gat>Aat	p.D34N	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D34N|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D34N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	34					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTACTTAGCAGATGAAGAGGA	0.488000													49	18					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130843	52130843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52130843G>A	ENST00000222107.4	-	6	1292	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S385F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S385F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S385F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S385F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	385					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGCTGAGCTGGAGTTGACCTT	0.647000													33	65					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212733	26212733	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:26212733C>T	ENST00000379034.1	+	2	919	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	257	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GAAATGGATTCCAGCGGCGAG	0.532000													48	28					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381609	156381609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156381609C>T	ENST00000274532.2	-	2	273	c.217G>A	c.(217-219)Gga>Aga	p.G73R	TIMD4_ENST00000407087.3_Missense_Mutation_p.G73R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	73	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTCATTCCATCAGTGCGG	0.517000													41	85					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27142001	27142001	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:27142001G>A	ENST00000222718.5	-	1	429	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	40						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGAAAGCGTCGAGGTCTTGAT	0.562000													9	134					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538635	31538635	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31538635C>T	ENST00000286808.3	-	1	336	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	101					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCTTCATGCCACAGATGCCA	0.567000													15	101					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105456071	105456071	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:105456071G>T	ENST00000264122.4	-	8	1336	c.1015C>A	c.(1015-1017)Cct>Act	p.P339T	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.P339T|CBLB_ENST00000394027.3_Missense_Mutation_p.P361T|CBLB_ENST00000403724.1_Missense_Mutation_p.P339T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	339	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTTAAATCAGGATTATAACTC	0.274000			Mis S		AML								33	65					4.11147e-13	4.14207e-13	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152647763	152647763	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:152647763G>A	ENST00000367255.5	-	79	15562	c.14961C>T	c.(14959-14961)acC>acT	p.T4987T	SYNE1_ENST00000265368.4_Silent_p.T4987T|SYNE1_ENST00000423061.1_Silent_p.T4916T|SYNE1_ENST00000448038.1_Silent_p.T4916T|SYNE1_ENST00000341594.5_Silent_p.T4734T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4987					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCAGTCAAGGTAGCCTGAA	0.403000										HNSCC(10;0.0054)			34	13					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388793	20388793	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20388793T>G	ENST00000315915.4	+	1	53	c.28T>G	c.(28-30)Tct>Gct	p.S10A		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCAGTGGTGTCTGAATTTGT	0.363000													41	87					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760714	21760714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:21760714G>A	ENST00000382254.1	-	13	2672	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	CDH12_ENST00000504376.2_Missense_Mutation_p.S529L|CDH12_ENST00000522262.1_Missense_Mutation_p.S489L|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	529	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTCAGGTGATAATCTAAA	0.383000										HNSCC(59;0.17)			73	48					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245725	166245725	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166245725G>A	ENST00000375437.2	+	27	5699	c.5409G>A	c.(5407-5409)gaG>gaA	p.E1803E	SCN2A_ENST00000375427.2_Silent_p.E1803E|SCN2A_ENST00000357398.3_Silent_p.E1803E|SCN2A_ENST00000283256.6_Silent_p.E1803E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1803					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGTTTGGGAGAAGTTTGATC	0.458000													46	114					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122181348	122181348	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:122181348C>T	ENST00000261369.4	+	1	205	c.20C>T	c.(19-21)tCc>tTc	p.S7F	SNX24_ENST00000511211.1_Intron|SNX24_ENST00000513881.1_Missense_Mutation_p.S7F|SNX24_ENST00000395451.4_Missense_Mutation_p.S7F|SNX24_ENST00000506996.1_Missense_Mutation_p.S7F	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	7	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TACATCCCGTCCTTTCGCTAT	0.766000													12	17					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471177	31471177	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31471177C>T	ENST00000457010.2	+	1	1033	c.332C>T	c.(331-333)cCc>cTc	p.P111L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P111L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P143L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P111L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P206L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	111							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ggccccgcccccTCCGCTGTG	0.741000													15	22					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109028056	109028056	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:109028056C>T	ENST00000478945.1	-	4	549	c.303G>A	c.(301-303)cgG>cgA	p.R101R		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACACCAGTCCCGCAAAGTGT	0.448000													115	209					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416166	82416166	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:82416166G>A	ENST00000370728.1	+	9	2137	c.1492_splice	c.e9+1	p.G498_splice	LPHN2_ENST00000335786.5_Splice_Site_p.G498_splice|LPHN2_ENST00000271029.4_Splice_Site_p.G498_splice|LPHN2_ENST00000394879.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370713.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370717.2_Splice_Site_p.G498_splice|LPHN2_ENST00000370730.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370723.1_Splice_Site_p.G498_splice|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370715.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370725.1_Splice_Site_p.G498_splice|LPHN2_ENST00000359929.3_Splice_Site_p.G498_splice|LPHN2_ENST00000370721.1_Splice_Site_p.G436_splice|LPHN2_ENST00000319517.6_Splice_Site_p.G498_splice			O95490	LPHN2_HUMAN	latrophilin 2	498					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGGAACAAGAGGTATTTTCTA	0.388000													18	50					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247655	56247655	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56247655C>T	ENST00000545221.1	+	1	639	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGTTCTTCCTCCTCCTGATGT	0.542000													49	113					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462004	228462004	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228462004C>T	ENST00000570156.2	+	23	6741	c.6667C>T	c.(6667-6669)Ctt>Ttt	p.L2223F	OBSCN_ENST00000284548.11_Missense_Mutation_p.L1848F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1848F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.L695F|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1206	Ig-like 22.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAACACGCAGCTTCGGGTGGG	0.682000													78	76					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905782	38905782	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38905782G>T	ENST00000359357.3	+	76	11199	c.10945G>T	c.(10945-10947)Gta>Tta	p.V3649L	DNAH8_ENST00000441566.1_Missense_Mutation_p.V3613L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V3866L|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTCATTGGTGTACTTCGAAC	0.458000													34	144					1.22384e-17	1.23506e-17	1	1	0
PTGFR	5737	broad.mit.edu	37	1	78958521	78958521	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:78958521T>C	ENST00000370756.3	+	2	330	c.93T>C	c.(91-93)ttT>ttC	p.F31F	PTGFR_ENST00000370757.3_Silent_p.F31F|PTGFR_ENST00000370758.1_Silent_p.F31F	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTCCGTATTTTTTTCAGTAA	0.448000													61	85					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35732412	35732412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:35732412C>T	ENST00000187397.4	+	9	1057	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R201*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	201	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTTGTCCATCGAGTGGCAGC	0.378000													9	123					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608860	98608860	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98608860G>A	ENST00000359863.4	+	70	11291	c.11082G>A	c.(11080-11082)gaG>gaA	p.E3694E	TRRAP_ENST00000355540.3_Silent_p.E3665E|TRRAP_ENST00000446306.3_Silent_p.E3683E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3694	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAACCCCGAGATGTTACAGA	0.493000													14	300					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368512	86368512	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:86368512C>T	ENST00000400286.2	-	2	2730	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	711						integral to membrane		p.G711E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCATCACTTCCTTCTTTCTC	0.413000													27	229					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113317045	113317045	+	Silent	SNP	C	C	T	rs113632213		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113317045C>T	ENST00000263331.5	+	9	2086	c.1506C>T	c.(1504-1506)acC>acT	p.T502T	POLR1B_ENST00000541869.1_Silent_p.T540T|POLR1B_ENST00000417433.2_Silent_p.T446T|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.T291T	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	502					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCGTGCATACCCCAGACGGGG	0.562000													10	156					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33502701	33502701	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33502701C>T	ENST00000254260.3	-	6	512	c.477G>A	c.(475-477)cgG>cgA	p.R159R	RHPN2_ENST00000400226.4_Silent_p.R8R	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	159	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGCTAGGCGTCCGACAAGCCT	0.597000													18	50					0	0	1	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23697631	23697631	+	Splice_Site	SNP	G	G	A	rs34362736		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:23697631G>A	ENST00000454117.1	+	2	296		c.e2-1		C1orf213_ENST00000437367.2_Splice_Site|C1orf213_ENST00000335648.3_3'UTR|C1orf213_ENST00000458053.1_Splice_Site|C1orf213_ENST00000518821.1_Splice_Site																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTATTCCTCAGGCCTGCGGGG	0.557000													5	18					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53138343	53138343	+	Translation_Start_Site	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53138343C>A	ENST00000597597.1	-	0	1996				ZNF83_ENST00000301096.3_De_novo_Start_OutOfFrame|ZNF83_ENST00000598536.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000597161.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000536937.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000596930.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000601257.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000544146.1_De_novo_Start_InFrame|ZNF83_ENST00000545872.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000600714.1_De_novo_Start_OutOfFrame			P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCCTGACGCCTTTGCTTTCC	0.438000													15	45					6.72482e-11	6.76734e-11	1	1	0
USH2A	7399	broad.mit.edu	37	1	216040395	216040395	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:216040395C>T	ENST00000366943.2	-	44	9185	c.8799G>A	c.(8797-8799)gcG>gcA	p.A2933A	USH2A_ENST00000307340.3_Silent_p.A2933A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2933	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAAGGACACTCGCAGTGAGAT	0.453000										HNSCC(13;0.011)			6	113					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960655	116960655	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:116960655C>T	ENST00000265441.3	-	2	575	c.276G>A	c.(274-276)agG>agA	p.R92R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	92					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTGTGATCCCTGTCCAGGG	0.582000													23	40					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354310	103354310	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103354310G>A	ENST00000358392.2	-	61	4876	c.4559C>T	c.(4558-4560)cCt>cTt	p.P1520L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1469L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1392L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1508L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1508	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGCCTTGAGGACCCTACAA	0.333000													27	65					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536209	30536209	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30536209G>A	ENST00000380412.5	-	2	1427	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	ZNF768_ENST00000562803.1_Missense_Mutation_p.P387S	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	418					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGGCATGGGGGATAAGGGCC	0.672000													7	60					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242868	3242868	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3242868C>T	ENST00000217939.6	-	5	1012	c.858G>A	c.(856-858)caG>caA	p.Q286Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	286						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)				TGCTCCTGTTCTGTCTCAGAG	0.488000													79	16					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656149	12656149	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12656149C>T	ENST00000425538.1	+	10	1744	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S515F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S419F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	515					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGCTGGACTCCGAGAAGGAC	0.577000													18	36					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18979626	18979626	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18979626C>T	ENST00000438934.1	+	0	2977				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA																							GTGTCTCCCCCTTCAGCCCCC	0.632000													5	11					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130494384	130494384	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130494384G>A	ENST00000373284.5	-	5	941	c.895C>T	c.(895-897)Cct>Tct	p.P299S	TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_3'UTR	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	299					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						TCGTCTTCAGGGAAGAAGGTG	0.637000													7	160					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591213	86591213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:86591213G>A	ENST00000370571.2	-	3	1172	c.806C>T	c.(805-807)cCc>cTc	p.P269L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P269L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	269					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTGGGCGGGGGAGAGTGTTC	0.398000													52	90					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11809692	11809692	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:11809692C>T	ENST00000306928.5	-	1	598	c.564G>A	c.(562-564)gaG>gaA	p.E188E		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	188					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGAGGCGGGCTCCGGCTCCC	0.711000													10	24					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382615	22382615	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:22382615C>T	ENST00000328795.4	+	1	234	c.143C>T	c.(142-144)aCc>aTc	p.T48I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATTTTCACCATAAGGTCA	0.458000													18	405					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839148	97839148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:97839148C>T	ENST00000370192.3	-	16	2127	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	676	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCCTCTTTCTCCCATGCCATG	0.443000													26	56					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148044	34148044	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:34148044G>A	ENST00000346193.3	-	1	2403	c.2352C>T	c.(2350-2352)atC>atT	p.I784I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	784										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGCCTCTACGATTTCTTTGT	0.373000													45	32					0	0	1	0	0
GPHA2	170589	broad.mit.edu	37	11	64702860	64702860	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64702860C>T	ENST00000279168.2	-	2	127	c.73G>A	c.(73-75)Gag>Aag	p.E25K	GPHA2_ENST00000532246.1_Missense_Mutation_p.E25K|GPHA2_ENST00000533257.1_Missense_Mutation_p.E25K	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	25						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						ATGACTGCCTCCTGGCCCCAG	0.602000													9	29					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933212	83933212	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83933212T>A	ENST00000345382.2	-	4	876	c.791A>T	c.(790-792)tAt>tTt	p.Y264F	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.Y257F	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	264					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCCAACATATATTGTTCGGG	0.498000													26	59					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25319698	25319698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:25319698C>T	ENST00000330560.3	+	4	838	c.361C>T	c.(361-363)Cct>Tct	p.P121S	CDCA2_ENST00000380665.3_Missense_Mutation_p.P106S	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	121					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TAGGAAATCTCCTTTGGCACA	0.433000													5	80					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75562103	75562103	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:75562103G>A	ENST00000238616.5	-	18	2363	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	735	Interaction with NEK6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CACTGCTATTGGAACGGATGG	0.388000													21	37					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957665	111957665	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111957665G>A	ENST00000369732.3	-	11	1513	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	486					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAGGGGTCATGGACTGATGAC	0.527000													40	72					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759411	6759411	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:6759411G>A	ENST00000378827.4	+	3	2085	c.866G>A	c.(865-867)cGg>cAg	p.R289Q		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	289					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CACAAACAGCGGAAACGCCTT	0.507000													22	63					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323952	127323952	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:127323952G>A	ENST00000265056.7	+	4	870	c.626G>A	c.(625-627)aGc>aAc	p.S209N		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	209	Interaction with MYST2 (By similarity).				cell cycle checkpoint|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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CACGTCGACAGCCACGGCCAC	0.627000													6	231					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178744	38178744	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:38178744C>T	ENST00000407257.1	+	2	533	c.386C>T	c.(385-387)tCc>tTc	p.S129F	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.S129F|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.S129F|RMDN2_ENST00000417700.2_Intron					regulator of microtubule dynamics 2																		CGTTTCTCATCCCGTAAACTA	0.368000													9	157					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86978493	86978493	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86978493G>A	ENST00000331536.3	+	3	294	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	CROT_ENST00000442291.1_Missense_Mutation_p.E37K|CROT_ENST00000419147.2_Missense_Mutation_p.E37K|CROT_ENST00000412227.2_Missense_Mutation_p.E37K	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	37					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAAATACCTTGAATCAGGTAT	0.338000													31	83					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52071133	52071133	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52071133G>A	ENST00000361781.2	-	9	1743	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SGMS1_ENST00000429490.1_Missense_Mutation_p.L93F	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	268					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGCAATGAGCTTCATTATT	0.448000													28	50					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28871934	28871934	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28871934A>T	ENST00000377199.3	-	8	1811	c.1455T>A	c.(1453-1455)gcT>gcA	p.A485A	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	485	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGATCAGAGGAGCTGCACTTT	0.517000			T	RET	papillary thyroid								44	219					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633831	49633831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49633831C>T	ENST00000334186.4	+	7	1203	c.854C>T	c.(853-855)tCc>tTc	p.S285F	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S285F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	285						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)		GAAGCCAACTCCAAGCTGCAG	0.682000													6	14					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	56833470	56833470	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56833470G>A	ENST00000308249.2	+	1	241	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	38	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			acccgaacccgaacccgaacc	0.677000													4	33					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540459	169540459	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:169540459G>A	ENST00000340806.6	+	1	750	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	250										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTCCATCCCGAAGAGCTTCG	0.587000													25	49					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348777	79348777	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79348777G>A	ENST00000233735.1	+	3	257	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	52	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTACTTTAATGAAGACCGTGA	0.552000													101	162					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41557004	41557004	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:41557004C>T	ENST00000396942.1	-	23	2607	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	ANK1_ENST00000379758.2_Missense_Mutation_p.E842K|ANK1_ENST00000352337.4_Missense_Mutation_p.E842K|ANK1_ENST00000265709.8_Missense_Mutation_p.E883K|ANK1_ENST00000396945.1_Missense_Mutation_p.E842K|ANK1_ENST00000289734.7_Missense_Mutation_p.E842K|ANK1_ENST00000347528.4_Missense_Mutation_p.E842K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	842					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCAGCAGCTCCTTCTCTTCA	0.582000													70	164					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318100	141318100	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:141318100G>A	ENST00000432126.2	+	12	1458	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	KIAA0141_ENST00000194118.4_Missense_Mutation_p.D442N	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	442					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCCAGCGACCTGACAGT	0.552000													63	108					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184094045	184094045	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184094045C>T	ENST00000204615.7	-	2	217	c.3G>A	c.(1-3)atG>atA	p.M1I	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Start_Codon_SNP_p.M1I|THPO_ENST00000421442.2_Start_Codon_SNP_p.M1I	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	1					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTCAGCTCCATTCTGGCCG	0.612000													97	265					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45059361	45059361	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:45059361G>A	ENST00000429094.2	-	13	1854	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	NELL2_ENST00000452445.2_Silent_p.Y450Y|NELL2_ENST00000437801.2_Silent_p.Y500Y|NELL2_ENST00000395487.2_Silent_p.Y449Y|NELL2_ENST00000333837.4_Silent_p.Y473Y|NELL2_ENST00000551601.1_Silent_p.Y449Y|NELL2_ENST00000549027.1_Silent_p.Y449Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	450	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCACGACAGTAATGGCGCC	0.403000													23	61					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114282576	114282576	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:114282576C>T	ENST00000393500.3	+	13	1482	c.662C>T	c.(661-663)tCc>tTc	p.S221F	FOXP2_ENST00000403559.4_Missense_Mutation_p.S313F|FOXP2_ENST00000360232.4_Missense_Mutation_p.S296F|FOXP2_ENST00000350908.4_Missense_Mutation_p.S296F|FOXP2_ENST00000393491.3_Missense_Mutation_p.S204F|FOXP2_ENST00000408937.3_Missense_Mutation_p.S321F|FOXP2_ENST00000378237.3_Missense_Mutation_p.S296F|FOXP2_ENST00000393494.2_Missense_Mutation_p.S296F|FOXP2_ENST00000393489.3_Missense_Mutation_p.S204F|FOXP2_ENST00000393498.2_Missense_Mutation_p.S275F|FOXP2_ENST00000390668.3_Missense_Mutation_p.S320F			O15409	FOXP2_HUMAN	forkhead box P2	296	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTAACAATTCCTCCTCGACT	0.448000													38	139					0	0	1	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74589185	74589185	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74589185G>A	ENST00000451608.2	-	4	431	c.432C>T	c.(430-432)ttC>ttT	p.F144F	DCTN1_ENST00000409567.3_Silent_p.F1206F|DCTN1_ENST00000394003.3_Silent_p.F1224F|DCTN1_ENST00000361874.3_Silent_p.F1231F|DCTN1_ENST00000407639.2_Silent_p.F1097F|DCTN1_ENST00000409868.1_Silent_p.F1209F|DCTN1_ENST00000409438.1_Silent_p.F1092F|DCTN1_ENST00000409240.1_Silent_p.F1189F																							TCACCCTGAGGAAGGCTGATG	0.607000													14	62					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40936445	40936445	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40936445C>T	ENST00000246914.5	+	4	1039	c.1018C>T	c.(1018-1020)Ccg>Tcg	p.P340S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	340	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TACAGGGACCCCGGAATTCAT	0.607000													16	24					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743259	26743259	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26743259C>T	ENST00000396005.3	-	1	312	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC5A12_ENST00000280467.6_Start_Codon_SNP_p.M1I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	1					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.M1I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTTCACCTCCATATTGGAAA	0.408000													54	118					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591708	11591708	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11591708C>T	ENST00000294484.6	+	17	3454	c.3316C>T	c.(3316-3318)Cac>Tac	p.H1106Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1106Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1106					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCAGCTGTCCCACGGGGCAGT	0.662000													21	45					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294332	219294332	+	Silent	SNP	C	C	T	rs150029516		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219294332C>T	ENST00000248444.5	+	8	871	c.783C>T	c.(781-783)tcC>tcT	p.S261S	VIL1_ENST00000392114.2_5'UTR|VIL1_ENST00000440053.1_Silent_p.S261S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	261	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCTGACTCCGAGGGGAATC	0.627000													67	142					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43798859	43798859	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:43798859G>A	ENST00000403856.1	-	14	2198	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F	THADA_ENST00000404790.1_Missense_Mutation_p.S684F|THADA_ENST00000402360.2_Missense_Mutation_p.S684F|THADA_ENST00000405975.2_Missense_Mutation_p.S684F|THADA_ENST00000405006.4_Missense_Mutation_p.S684F|THADA_ENST00000330266.7_Missense_Mutation_p.S394F|THADA_ENST00000415080.2_Missense_Mutation_p.S394F			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	684							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTAAGAAGAGAACAGATCTG	0.408000													48	98					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704486	69704486	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:69704486A>T	ENST00000409014.1	+	10	1769	c.1112A>T	c.(1111-1113)gAt>gTt	p.D371V	EXD2_ENST00000312994.5_Missense_Mutation_p.D496V|EXD2_ENST00000409018.3_Missense_Mutation_p.D496V|EXD2_ENST00000409675.1_Missense_Mutation_p.D371V|EXD2_ENST00000409242.1_Missense_Mutation_p.D371V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.D371V|EXD2_ENST00000449989.1_Missense_Mutation_p.D371V	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	371					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						CTGCTGGAAGATCCTGAGCGC	0.617000													13	29					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081061	194081061	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:194081061G>A	ENST00000347624.3	-	2	797	c.712C>T	c.(712-714)Cct>Tct	p.P238S	LRRC15_ENST00000428839.1_Missense_Mutation_p.P244S|LRRC15_ENST00000439944.2_Missense_Mutation_p.P244S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	238						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		AAGAGACCAGGGGAGAGCAGT	0.552000													53	135					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976479	38976479	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38976479C>T	ENST00000355481.4	+	34	5315	c.5184C>T	c.(5182-5184)tcC>tcT	p.S1728S	RYR1_ENST00000360985.3_Silent_p.S1728S|RYR1_ENST00000359596.3_Silent_p.S1728S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1728	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	GCCGCCGCTCCATGCTCTCTG	0.647000													64	109					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862424	8862424	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:8862424G>A	ENST00000338037.6	+	32	3606	c.3579G>A	c.(3577-3579)gtG>gtA	p.V1193V	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1193					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAAAGTGAACCACAAGA	0.502000													74	159					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160722032	160722032	+	Missense_Mutation	SNP	G	G	A	rs34005665	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160722032G>A	ENST00000359331.4	+	5	837	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SLAMF7_ENST00000368043.3_Silent_p.P310P|SLAMF7_ENST00000368042.3_Silent_p.P203P|SLAMF7_ENST00000458104.2_Missense_Mutation_p.E129K|SLAMF7_ENST00000444090.2_Missense_Mutation_p.E145K|SLAMF7_ENST00000458602.2_Silent_p.P163P|SLAMF7_ENST00000441662.2_Silent_p.P179P			Q9NQ25	SLAF7_HUMAN	SLAM family member 7	0					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGAAATACCGAAAAAGGTAA	0.363000													18	67					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759748	3759748	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3759748G>A	ENST00000316757.3	-	2	715	c.515C>T	c.(514-516)cCg>cTg	p.P172L		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	172					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGTTCCGGGGAACTGCT	0.657000													30	57					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278669	50278669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50278669G>A	ENST00000442544.2	+	2	953	c.337G>A	c.(337-339)Gga>Aga	p.G113R	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	113	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCAGATGAGGGACTTTACCA	0.448000													44	72					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212722	62212722	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:62212722G>A	ENST00000519846.1	+	3	808	c.336G>A	c.(334-336)aaG>aaA	p.K112K	CLVS1_ENST00000325897.4_Silent_p.K112K|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	112					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AAAACTTCAAGGCAGATGATC	0.512000													35	55					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78546431	78546431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:78546431G>A	ENST00000370759.3	+	2	506	c.313G>A	c.(313-315)Gat>Aat	p.D105N	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	105						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AGGACTAGAAGATTTCATATT	0.358000													50	120					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87031601	87031601	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87031601C>T	ENST00000265723.4	-	28	3783	c.3672G>A	c.(3670-3672)ctG>ctA	p.L1224L	ABCB4_ENST00000453593.1_Silent_p.L1170L|ABCB4_ENST00000545634.1_Silent_p.L1217L|ABCB4_ENST00000359206.3_Silent_p.L1217L|ABCB4_ENST00000358400.3_Silent_p.L1170L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1224	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGGCTTTGTCCAGGGCTTCTT	0.408000													34	81					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616766	77616766	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77616766G>T	ENST00000521891.2	+	2	891	c.443G>T	c.(442-444)aGt>aTt	p.S148I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S148I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S148I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S148I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAAAGAAAGTGGGCAGAAT	0.483000										HNSCC(33;0.089)			8	72					5.18039e-06	5.19893e-06	1	1	0
POU2AF1	5450	broad.mit.edu	37	11	111229588	111229588	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:111229588C>T	ENST00000393067.3	-	2	586	c.72G>A	c.(70-72)gtG>gtA	p.V24V		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	24					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTGGCTCCTTCACACGGACGC	0.632000			T	BCL6	NHL								22	14					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417600	150417600	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417600G>A	ENST00000307194.5	+	3	648	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCAACACAGAGAACCGGGC	0.647000													39	145					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318509	79318509	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79318509G>A	ENST00000428286.1	-	9	8143	c.6943C>T	c.(6943-6945)Ctg>Ttg	p.L2315L	PRUNE2_ENST00000376718.3_Silent_p.L2674L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2674					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAATCTGCAGCTGGGGACCC	0.567000													24	69					0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83527825	83527825	+	Silent	SNP	G	G	A	rs1051936		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83527825G>A	ENST00000304231.8	-	5	675	c.483C>T	c.(481-483)caC>caT	p.H161H	HOMER2_ENST00000450735.2_Silent_p.H150H|HOMER2_ENST00000399166.2_Silent_p.H150H|HOMER2_ENST00000426485.1_Silent_p.H161H	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	161				H -> Q (in Ref. 1; AAC71027/AAC71028).	metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CAGACTTCAGGTGTGTGTTGG	0.512000													32	113					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87407059	87407059	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87407059G>A	ENST00000327946.7	-	13	2178	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.P269L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	698						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGCTCCAGGGGGTTGGTGCC	0.542000										Multiple Myeloma(13;0.14)			10	490					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90128991	90128991	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90128991C>T	ENST00000268138.7	+	4	1334	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	TICRR_ENST00000560985.1_Missense_Mutation_p.S409F|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GGAGTTATTTCCCCACTCTCT	0.522000													27	54					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828467	6828467	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6828467A>T	ENST00000304076.2	+	11	1155	c.1061A>T	c.(1060-1062)gAg>gTg	p.E354V	VAV1_ENST00000596764.1_Missense_Mutation_p.E322V|VAV1_ENST00000599806.1_Missense_Mutation_p.E299V|VAV1_ENST00000539284.1_Missense_Mutation_p.E257V|VAV1_ENST00000602142.1_Missense_Mutation_p.E354V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	354	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATGGAGAAGGAGAACCTGCGG	0.632000													8	68					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108040	26108040	+	Silent	SNP	C	C	T	rs141494120	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26108040C>T	ENST00000338379.4	-	1	324	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	94	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCAGGATTCCCTTGTTCACTA	0.483000													6	188					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258335	18258335	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:18258335C>T	ENST00000286479.3	+	2	929	c.822C>T	c.(820-822)tcC>tcT	p.S274S	NAT2_ENST00000520116.1_Silent_p.S144S	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTAAGATTTCCTTGGGGAGAA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				39	48					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756703	71756703	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:71756703C>T	ENST00000318442.5	-	2	1111	c.621G>A	c.(619-621)caG>caA	p.Q207Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTTCCGGGGGCTGCTTGGGCA	0.642000													40	107					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827158	96827158	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96827158G>A	ENST00000539050.1	-	2	591	c.30C>T	c.(28-30)ttC>ttT	p.F10F	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000371270.3_Intron			P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	169					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CACAGCCAAGGAAGAAAGTGC	0.478000													23	52					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312875	120312875	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120312875C>T	ENST00000397843.2	+	15	1432	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	ARHGEF12_ENST00000356641.3_Silent_p.F403F|ARHGEF12_ENST00000532993.1_Silent_p.F319F	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	422	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTCGCATCTTCCTTGAGTTTC	0.378000			T	MLL	AML								4	35					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767477	12767477	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12767477G>A	ENST00000456935.2	-	13	1592	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.L517L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	518					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCGCCCCAGGGGATTATAA	0.592000													50	110					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941794	144941794	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144941794C>T	ENST00000525985.1	-	2	5699	c.5628G>A	c.(5626-5628)ggG>ggA	p.G1876G				P58107	EPIPL_HUMAN	epiplakin 1	1876						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGTCCTCCCCACACGAA	0.617000													49	66					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132591793	132591793	+	Silent	SNP	C	C	T	rs144931603		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:132591793C>T	ENST00000372447.3	-	7	623	c.570G>A	c.(568-570)acG>acA	p.T190T	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	190										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TGGCATCCTCCGTGGAAATGA	0.473000													7	268					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821105	192821105	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:192821105C>T	ENST00000392314.1	-	8	1137		c.e8-1		TMEFF2_ENST00000272771.5_Splice_Site|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2							extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTAGCATTCTCTGTGAATACA	0.393000													47	80					0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41133797	41133797	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:41133797C>T	ENST00000379561.5	-	2	2215	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	611					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATGTCACAGTCTAAGCGCTCA	0.488000													61	96					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50395890	50395890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50395890C>T	ENST00000266025.3	-	1	1151	c.605G>A	c.(604-606)tGg>tAg	p.W202*	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	202					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGATATACCCAACTGGAGAG	0.632000													13	69					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35641632	35641632	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35641632A>C	ENST00000440995.2	+	3	261	c.261A>C	c.(259-261)acA>acC	p.T87T	SPEF2_ENST00000282469.6_Silent_p.T87T|SPEF2_ENST00000509059.1_Silent_p.T87T|SPEF2_ENST00000356031.3_Silent_p.T87T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	87	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCATCACAGAAAAGCCTG	0.438000													5	172					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89418754	89418754	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89418754G>A	ENST00000260508.4	-	10	1283	c.946C>T	c.(946-948)Cct>Tct	p.P316S	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.P282S	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	316					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTGTAAAGGAGTTGCACAA	0.343000													16	47					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28852029	28852029	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:28852029G>A	ENST00000422425.2	+	52	3806	c.3762G>A	c.(3760-3762)ggG>ggA	p.G1254G	PLB1_ENST00000327757.5_Silent_p.G1265G|PLB1_ENST00000541605.1_Silent_p.G230G	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1265	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCCAAGGCGGGAAATGTGCCA	0.617000													18	48					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796923	62796923	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62796923G>A	ENST00000582986.1	-	0	997					NR_024386.1																						TGCTCAGGTAGAGGCGGAACT	0.622000													13	43					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955804	107955804	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:107955804G>A	ENST00000317357.5	+	6	2415	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	586							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GTCCCCCCGGGACTCCAAGCA	0.731000													14	22					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79403317	79403317	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79403317C>T	ENST00000376713.3	-	7	1011	c.890G>A	c.(889-891)gGa>gAa	p.G297E	PRUNE2_ENST00000376718.3_Intron|PRUNE2_ENST00000428286.1_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	0					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCACTACTTTCCTCTTTGTAA	0.413000													6	15					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714297	150714297	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150714297C>T	ENST00000605938.1	-	9	2190	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.E191E|ATG9B_ENST00000377974.2_Silent_p.E705E	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	705					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAAGAAAGCTCAGTCTTGC	0.592000													20	68					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059694	177059694	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:177059694G>A	ENST00000515045.1	-	0	234					NR_026921.1																						AGTCCACTGCGATCTTTTGTC	0.433000													5	14					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645826	123645826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123645826C>T	ENST00000606320.1	-	22	3444	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1050K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E928K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E928K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	928					M phase of mitotic cell cycle	centriole|Golgi membrane		p.E928Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATTCTTCTCCCAGGCTGTT	0.433000													62	121					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419929	149419929	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149419929C>T	ENST00000255992.10	+	7	1053	c.654C>T	c.(652-654)atC>atT	p.I218I	KRBA1_ENST00000485033.2_Silent_p.I218I|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.I218I	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	218										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAAGGAAATCCTTGTGCCTG	0.617000													27	136					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293450	120293450	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120293450C>T	ENST00000369406.3	-	9	1551	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R459Q	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	501					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGCATACTTTCGGCGATGCTG	0.512000													11	47					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342704	122342704	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122342704C>T	ENST00000434824.1	-	1	317	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.G34E	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	34						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AATGGCTTTTCCGTTTGAGTC	0.418000													12	59					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122541	153122541	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153122541G>A	ENST00000368748.4	-	2	84	c.46C>T	c.(46-48)Cct>Tct	p.P16S		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	16					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACACAGGAGGTGGCTGG	0.572000													8	220					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965099	46965099	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:46965099G>A	ENST00000374323.3	-	5	1592	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	SYT15_ENST00000374325.3_Silent_p.L282L|SYT15_ENST00000374321.4_Silent_p.L282L|SYT15_ENST00000503753.1_Silent_p.L282L|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	282	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCAGAACTGGAGGTCGCCAA	0.627000													7	102					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022373	51022373	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51022373C>T	ENST00000599957.1	-	3	794	c.597G>A	c.(595-597)tcG>tcA	p.S199S	LRRC4B_ENST00000389201.3_Silent_p.S199S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	199						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGGCCGCCTCCGAGATGTATT	0.657000													31	58					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732922	57732922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57732922G>A	ENST00000360716.3	+	4	585	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E122K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E122K|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	122						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCTGAACGAGTGTGAAGT	0.642000													34	153					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7980484	7980484	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7980484G>A	ENST00000319144.4	-	9	1359	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	367	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGGAAGATGGGGCAATCTGGC	0.602000										Multiple Myeloma(8;0.094)			12	34					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135545421	135545421	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135545421C>T	ENST00000372159.3	-	1	367	c.216G>A	c.(214-216)agG>agA	p.R72R	DDX31_ENST00000372153.1_Silent_p.R72R|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000372146.4_Intron|DDX31_ENST00000310532.2_Silent_p.R72R|GTF3C4_ENST00000483873.2_Intron	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	72						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CGCCACCGCCCCTTCCGGGTC	0.751000													10	6					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44581753	44581753	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44581753G>A	ENST00000422871.1	+	4	568		c.e4+1		PARVG_ENST00000453888.3_Splice_Site|PARVG_ENST00000444313.2_Splice_Site|PARVG_ENST00000415224.1_Splice_Site	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACTGCAGAAGGTACAGCAGCC	0.607000													24	31					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764826	77764826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77764826C>T	ENST00000521891.2	+	10	6117	c.5669C>T	c.(5668-5670)tCc>tTc	p.S1890F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1845F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1845F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1864F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1845						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1890Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAAAAATCCTTGGAACCA	0.433000										HNSCC(33;0.089)			15	18					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033101	55033101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55033101C>T	ENST00000417545.2	+	3	571	c.485C>T	c.(484-486)tCt>tTt	p.S162F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	146						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAAATGCAGTCTTTATGGGAA	0.423000													7	64					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215708	20215708	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20215708G>A	ENST00000331723.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTCCTGGGAAACCTCTTG	0.398000													66	126					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039024	29039024	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:29039024G>A	ENST00000257189.4	+	5	484	c.401G>A	c.(400-402)gGa>gAa	p.G134E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	134	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGCCCAAGGACTAGATGTA	0.328000													17	60					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99786792	99786792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:99786792G>A	ENST00000524871.1	+	7	874	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G195E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G195E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G195E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G121E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	195					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G195E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGATCTGGGAAATTTTAGT	0.423000													8	11					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376074	8376074	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:8376074C>T	ENST00000538603.1	-	6	961	c.403G>A	c.(403-405)Gga>Aga	p.G135R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G135R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	135							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCGTGGATCCTTTTTGATTT	0.517000													40	235					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20216515C>T	ENST00000331723.1	+	1	929	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393000													16	28					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177226514	177226514	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177226514C>T	ENST00000361539.4	+	4	975	c.663C>T	c.(661-663)gcC>gcT	p.A221A	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		221						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCACGGGGGCCATCAAGGTAA	0.617000													23	21					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397908	125397908	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125397908G>A	ENST00000521654.2	+	4	1387	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R	RNF217_ENST00000368414.2_Missense_Mutation_p.G25R|RNF217_ENST00000560949.1_Missense_Mutation_p.G228R|RNF217_ENST00000359704.2_Missense_Mutation_p.G171R|RNF217_ENST00000275184.6_Missense_Mutation_p.G107R			Q8TC41	RN217_HUMAN	ring finger protein 217	171					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCGATTTTTTGGAGACCACAC	0.453000													45	111					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677271	48677271	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48677271G>A	ENST00000544264.1	-	35	10042	c.9762C>T	c.(9760-9762)atC>atT	p.I3254I	CELSR3_ENST00000164024.4_Silent_p.I3249I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3249					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGAGGCAAGGATGGAGGAAA	0.607000													21	221					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901147	24901147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24901147C>T	ENST00000251343.5	+	3	819	c.680C>T	c.(679-681)cCc>cTc	p.P227L	KHNYN_ENST00000556842.1_Missense_Mutation_p.P227L|KHNYN_ENST00000553935.1_Missense_Mutation_p.P227L			O15037	KHNYN_HUMAN	KH and NYN domain containing	227										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GTGAGAGCTCCCCCTAGTGAC	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	92					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52426950	52426950	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52426950C>T	ENST00000420323.2	+	65	10644	c.10383C>T	c.(10381-10383)tcC>tcT	p.S3461S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3526	AAA 5 (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)		TCTGTGTGTCCGACCTGGCCA	0.567000													80	237					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018650	62018650	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:62018650C>T	ENST00000578147.1	-	24	5068	c.4992G>A	c.(4990-4992)ctG>ctA	p.L1664L	SCN4A_ENST00000435607.1_Silent_p.L1664L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1664					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGGCAAGTCCAGTGTGATGA	0.582000													40	146					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46099293G>A	ENST00000295452.4	-	2	345	c.178C>T	c.(178-180)Cat>Tat	p.H60Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368000													53	134					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40043848	40043848	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:40043848G>A	ENST00000336649.4	+	11	1484	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G495E|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G495E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	495					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	aagggtcagggagatgaaggg	0.537000													44	72					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475133	140475133	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140475133C>T	ENST00000194155.4	+	1	907	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCAGATCCCGGAGGACA	0.522000													35	66					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464975	21464975	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21464975T>G	ENST00000339374.6	+	14	1530	c.1297T>G	c.(1297-1299)Tgg>Ggg	p.W433G	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.W424G|METTL17_ENST00000382985.4_Missense_Mutation_p.L457R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	433					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGTCAGCTCCTGGGGAGATCT	0.522000													42	134					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774643	140774643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140774643C>T	ENST00000398604.2	+	1	2263	c.2263C>T	c.(2263-2265)Cag>Tag	p.Q755*	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTATTCCCAGGAAGTCTC	0.567000													27	93					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332574	130332574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:130332574C>T	ENST00000299164.2	+	4	1441	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	481	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GATGGTGTGCCAGACCCGCCA	0.627000													24	49					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329628	126329628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126329628G>A	ENST00000394329.3	+	4	5612	c.5599G>A	c.(5599-5601)Gat>Aat	p.D1867N	FAT4_ENST00000335110.5_Missense_Mutation_p.D165N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1867	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTAGCCACGGATGATGACTC	0.323000													42	97					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492664	198492664	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:198492664C>T	ENST00000367381.1	-	5	337	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.E72K|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.E78K|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.E72K|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	72					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TCTTCTATTTCATCTGAGAGA	0.348000													17	72					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482167	38482167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38482167C>T	ENST00000263409.4	-	20	2986	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	LIFR_ENST00000453190.2_Missense_Mutation_p.E942K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	942					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACATGGTTTTCAGGCTCTGCA	0.453000			T	PLAG1	salivary adenoma								85	334					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49142303	49142303	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49142303G>A	ENST00000084798.4	-	8	1482	c.803C>T	c.(802-804)tCc>tTc	p.S268F	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	268						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GAGTCTCAGGGAGTGCATCTG	0.622000													18	43					0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42231776	42231776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:42231776C>T	ENST00000220812.2	-	4	703	c.517G>A	c.(517-519)Gga>Aga	p.G173R		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	173	DKK-type Cys-2.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGACCTGTCCCTCCAAAAGG	0.493000													42	106					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653263	158653263	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158653263G>A	ENST00000368148.3	-	3	468	c.288C>T	c.(286-288)tcC>tcT	p.S96S	SPTA1_ENST00000368147.3_Silent_p.S96S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	96					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)					CTGCTTCAAGGGATTGATGCT	0.403000													5	127					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457442	15457442	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:15457442G>A	ENST00000443029.1	-	4	608	c.368C>T	c.(367-369)cCt>cTt	p.P123L	METTL6_ENST00000450816.2_Missense_Mutation_p.P78L|METTL6_ENST00000383789.5_Missense_Mutation_p.P123L|METTL6_ENST00000383790.3_Missense_Mutation_p.P123L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	123							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ATCATATAAAGGATTTTGCTA	0.373000													8	87					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316266	30316266	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30316266C>T	ENST00000375377.1	-	3	2912	c.2811G>A	c.(2809-2811)gtG>gtA	p.V937V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	937										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACCTTCTTCCACGCGAAAGC	0.607000													45	82					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544645	115544645	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:115544645C>G	ENST00000310836.6	+	2	1131	c.609C>G	c.(607-609)tcC>tcG	p.S203S	UGT8_ENST00000394511.3_Silent_p.S203S	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	203					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ACCTCATTTCCAGATTAGGGG	0.448000													10	142					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574293	179574293	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179574293C>T	ENST00000589042.1	-	99	28977	c.28753_splice	c.e99+1	p.E9585_splice	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site_p.E9268_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.E8341_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9268							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)			GATAACTCACCTTTGATGACG	0.438000													22	37					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	401977	401977	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:401977T>G	ENST00000256509.2	+	12	1818	c.1176T>G	c.(1174-1176)ttT>ttG	p.F392L	CHL1_ENST00000397491.2_Missense_Mutation_p.F376L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	376	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCATCCATTTGCTGGTGATG	0.358000													28	75					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2013234	2013234	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2013234G>A	ENST00000529806.1	-	2	387	c.201C>T	c.(199-201)ttC>ttT	p.F67F	RPS2_ENST00000343262.4_Silent_p.F97F|RPS2_ENST00000530225.1_Silent_p.F97F|RPS2_ENST00000526522.1_Silent_p.F97F			P15880	RS2_HUMAN	ribosomal protein S2	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AGGCCCCCAGGAAGAAATCAA	0.448000													4	14					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49351192	49351192	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49351192G>A	ENST00000263265.6	-	14	2086	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P486S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	511						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGGAGCACGGGAGATGGGGAG	0.602000													19	45					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49785265	49785265	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49785265G>A	ENST00000321599.4	-	2	510	c.209C>T	c.(208-210)aCc>aTc	p.T70I	IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000468463.1_Missense_Mutation_p.T70I|IP6K1_ENST00000460540.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	70					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GTATTCAGGGGTGAACTCCTT	0.507000													14	42					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124663857	124663857	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:124663857C>T	ENST00000325995.7	-	1	1333	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	437										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCCTCTCCTCCAAAGAGATA	0.537000													89	132					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878601	190878601	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:190878601G>A	ENST00000226798.4	+	6	703	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	161					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TAGATGCAATGAAGCAGGGGA	0.378000													6	84					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132275369	132275369	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:132275369C>T	ENST00000438378.2	+	0	1642					NR_026922.1																						ACCGCGCACTCCGCACAGACC	0.587000													18	34					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604924	90604924	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:90604924C>T	ENST00000369352.1	+	1	737	c.737C>T	c.(736-738)tCc>tTc	p.S246F		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	246					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATAAGAAATCCAGCAGTGAG	0.393000													53	81					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220341617	220341617	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220341617G>A	ENST00000312358.7	+	19	4605	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1491	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCATCATGGAGGACGTGG	0.607000													12	133					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980408	67980408	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67980408G>A	ENST00000422611.2	-	17	2415	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000316341.3_Silent_p.S790S|SLC12A4_ENST00000572037.1_Silent_p.S742S|SLC12A4_ENST00000541864.2_Silent_p.S759S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	790					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGCACCACGGAGTTATGCC	0.677000													33	43					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471834	76471834	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76471834G>A	ENST00000389840.5	-	53	8318	c.8194C>T	c.(8194-8196)Cct>Tct	p.P2732S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P2741S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGGTTACAGGAACATATTTG	0.443000													16	37					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200089954	200089954	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200089954G>A	ENST00000367362.3	+	7	1495	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	NR5A2_ENST00000236914.3_Missense_Mutation_p.A371T|NR5A2_ENST00000544748.1_Missense_Mutation_p.A345T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	417					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTCCATAATAGCATCACAAGC	0.423000													4	111					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32336799	32336799	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:32336799G>C	ENST00000375200.1	+	4	775	c.410G>C	c.(409-411)aGc>aCc	p.S137T	ZNF341_ENST00000342427.2_Missense_Mutation_p.S137T			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATCTTGGTGAGCGATGATGTG	0.587000													24	54					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30602742	30602742	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30602742C>T	ENST00000300415.8	+	2	79	c.66C>T	c.(64-66)ccC>ccT	p.P22P	CCM2L_ENST00000262659.8_Silent_p.P22P					cerebral cavernous malformation 2-like																		TGGTGTTCCCCAAGGCCGGGC	0.602000													89	196					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381663	121381663	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121381663A>G	ENST00000297848.3	+	47	5520	c.5250A>G	c.(5248-5250)caA>caG	p.Q1750Q	COL14A1_ENST00000309791.4_Silent_p.Q1750Q|COL14A1_ENST00000247781.3_Silent_p.Q1655Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1750	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGGACCCCAAGGTCCTTCTG	0.592000													44	81					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73744921	73744921	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73744921G>A	ENST00000200181.3	+	27	3298		c.e27-1		ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCACTCCCAGGACTACATCC	0.622000													4	21					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550735	167550735	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167550735G>A	ENST00000341935.5	+	3	1569	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	CCR6_ENST00000400926.2_Silent_p.R339R|CCR6_ENST00000349984.4_Silent_p.R339R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	339					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGTGAGAAGGAAGTACAAGT	0.502000													44	71					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:175528581G>A	ENST00000253490.4	+	12	718	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM153B_ENST00000510151.1_Missense_Mutation_p.E144K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E144K|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	221								p.E221K(1)|p.E221*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463000													20	203					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039894	29039894	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:29039894G>A	ENST00000257189.4	+	6	687	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	202	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTCTCTCAGGAACCAGCAGG	0.458000													18	45					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993819	75993819	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75993819G>A	ENST00000274364.6	+	33	4511	c.4214G>A	c.(4213-4215)cGa>cAa	p.R1405Q	IQGAP2_ENST00000502745.1_Missense_Mutation_p.R901Q|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R901Q|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R907Q	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1405					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAGGATATTCGAAATCAAAGA	0.363000													22	29					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18906832	18906832	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18906832C>T	ENST00000388995.6	-	2	746		c.e2+1		SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Splice_Site|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Splice_Site			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCTGCCTCACCTTCTGTGCC	0.647000													24	47					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181491	65181491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:65181491C>T	ENST00000310045.7	-	2	1858	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	119						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCATAAATTTCATTCCACTTG	0.403000													36	81					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54265396	54265396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:54265396G>A	ENST00000354646.2	-	18	4226	c.3788C>T	c.(3787-3789)cCt>cTt	p.P1263L	WNK3_ENST00000375159.2_Missense_Mutation_p.P1263L|WNK3_ENST00000375169.3_Intron	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1247					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTTGCTAATAGGATTTTTGAG	0.463000													4	51					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371747	81371747	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:81371747C>T	ENST00000398636.3	+	3	304	c.166C>T	c.(166-168)Cct>Tct	p.P56S	SFTPA1_ENST00000428376.2_Missense_Mutation_p.P56S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.P71S|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Missense_Mutation_p.P56S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	56	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGACCCTGGCCCTCCAGGTAC	0.627000													36	77					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53413721	53413721	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53413721C>T	ENST00000262056.9	+	4	714	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	EIF4B_ENST00000416762.3_Intron|EIF4B_ENST00000420463.3_Missense_Mutation_p.P130S|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	130	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACCACGTGAACCCAGCAATCC	0.418000													14	46					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543374	28543374	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28543374C>T	ENST00000452236.2	-	3	1725	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	370	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAACTAACTTCCTTAATTGAT	0.343000													11	253					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31610704	31610704	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:31610704C>T	ENST00000379416.3	-	8	672	c.624G>A	c.(622-624)caG>caA	p.Q208Q	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	208					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAATGGGCTCCTGGGTTGGAT	0.522000													3	9					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359895	71359895	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:71359895C>T	ENST00000373677.1	+	2	2661	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	NHSL2_ENST00000540800.1_Silent_p.L833L|NHSL2_ENST00000510661.1_Silent_p.L602L|NHSL2_ENST00000535692.1_Silent_p.L467L			F5H593	F5H593_HUMAN	NHS-like 2	833										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TTCTGTTCGCCTGAGGTCGGT	0.512000													11	9					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155312429	155312429	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155312429C>T	ENST00000357232.3	-	1	20	c.21G>A	c.(19-21)acG>acA	p.T7T	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	7					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctctgatttcgttatctcat	0.383000													8	17					0	0	1	0	0
C19orf48	84798	broad.mit.edu	37	19	51301460	51301460	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51301460G>A	ENST00000598463.1	-	5	1344	c.246C>T	c.(244-246)tcC>tcT	p.S82S	C19orf48_ENST00000391812.1_Silent_p.S82S|C19orf48_ENST00000345523.4_Silent_p.S82S|C19orf48_ENST00000596655.1_Silent_p.S82S			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	82										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGTGGCGTATGGACAGCTCCT	0.642000													75	141					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212288973	212288973	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:212288973G>A	ENST00000342788.4	-	23	3083	c.2773C>T	c.(2773-2775)Cca>Tca	p.P925S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P925S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P915S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	925	Protein kinase.				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)		TCTCGCGTTGGAATTCCATCA	0.383000										TSP Lung(8;0.080)			25	55					0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85989020	85989020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:85989020C>T	ENST00000263360.6	+	11	1872	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	EED_ENST00000327320.4_Missense_Mutation_p.P396S|EED_ENST00000528180.1_Missense_Mutation_p.P316S|EED_ENST00000351625.6_Missense_Mutation_p.P421S|EED_ENST00000527888.1_Missense_Mutation_p.P61S	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	396	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGTAGAAGATCCTCATAAAGC	0.299000													47	133					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086766	9086766	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9086766G>A	ENST00000397910.4	-	1	5252	c.5049C>T	c.(5047-5049)ctC>ctT	p.L1683L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1683	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTAACAAGGAGTCCCATTG	0.473000													48	99					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132498130	132498130	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:132498130C>T	ENST00000333577.4	+	19	3924	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L	EP400_ENST00000389562.2_Missense_Mutation_p.P1235L|EP400_ENST00000389561.2_Missense_Mutation_p.P1236L|EP400_ENST00000330386.6_Missense_Mutation_p.P1236L|EP400_ENST00000332482.4_Missense_Mutation_p.P1199L			Q96L91	EP400_HUMAN	E1A binding protein p400	1272	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATCTCCAGGCCCTACCTGAGC	0.557000													27	55					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37535157	37535157	+	Splice_Site	SNP	G	G	A	rs146185118	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37535157G>A	ENST00000216223.5	-	5	586	c.388_splice	c.e5+1	p.L130_splice		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	130					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTCACTCACGGTTCTCAAAG	0.627000													13	44					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981767	85981767	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85981767A>C	ENST00000372113.4	-	3	1567	c.1562T>G	c.(1561-1563)tTt>tGt	p.F521C	LRIT2_ENST00000538192.1_Missense_Mutation_p.F531C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	521						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATGTTCTCTAAAGGAGCCATC	0.597000													69	144					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262291	45262291	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:45262291G>A	ENST00000303230.4	-	8	2462	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	802						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAGGTCTGGAAATCAGAGT	0.657000													30	87					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435917	435917	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:435917G>A	ENST00000338977.5	-	2	2351	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.P780L|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACATTTGTAGGGTTTCTTTCC	0.358000													14	29					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915867	126915867	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126915867C>T	ENST00000398112.1	+	2	579	c.339C>T	c.(337-339)ccC>ccT	p.P113P		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GCTTTGACCCCCTCATAGGAA	0.582000													84	200					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255461	240255461	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240255461G>A	ENST00000319653.9	+	1	282	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	18					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCTTTGCACGAAGGCGGCGG	0.682000													7	10					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155885707	155885707	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155885707C>T	ENST00000368320.3	-	13	1627	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	KIAA0907_ENST00000368321.3_Silent_p.E534E			Q7Z7F0	K0907_HUMAN	KIAA0907	534										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTTCATCGGACTCTGTTTTTA	0.428000													130	423					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807906	152807906	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:152807906G>A	ENST00000370186.1	+	5	1116	c.790_splice	c.e5+1	p.G264_splice	ATP2B3_ENST00000370181.2_Splice_Site_p.G264_splice|ATP2B3_ENST00000263519.4_Splice_Site_p.G264_splice|ATP2B3_ENST00000349466.2_Splice_Site_p.G264_splice|ATP2B3_ENST00000393842.1_Splice_Site_p.G264_splice|ATP2B3_ENST00000359149.3_Splice_Site_p.G264_splice			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	264					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCTCTCAGGTGAGGGCCA	0.652000													25	21					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172330436	172330436	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:172330436C>T	ENST00000375255.3	+	10	1369	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	348						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GATCTATTTCCATCCTGATGC	0.358000													4	57					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12277230	12277230	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:12277230C>T	ENST00000320477.9	+	5	686	c.621C>T	c.(619-621)tcC>tcT	p.S207S	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	207					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGCGGCCATCCCTCCGGTCAC	0.572000													26	63					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54275214	54275214	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:54275214C>T	ENST00000381405.4	-	3	646	c.501G>A	c.(499-501)gtG>gtA	p.V167V	ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Silent_p.V117V	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	167					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)			CATTCTCTTTCACAACTTCTT	0.438000													49	99					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25712297	25712297	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:25712297G>A	ENST00000349320.3	-	9	1318	c.930C>T	c.(928-930)tcC>tcT	p.S310S	RHCE_ENST00000243186.6_Silent_p.S326S|RHCE_ENST00000455194.1_Silent_p.S221S|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000340849.4_Silent_p.S221S|RHCE_ENST00000413854.1_Silent_p.S326S|RHCE_ENST00000346452.4_Silent_p.S175S|RHCE_ENST00000374352.2_Silent_p.S310S|RHCE_ENST00000349438.4_Intron|RHCE_ENST00000294413.7_Silent_p.S326S			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	326						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCATGACGGAGATGTGGT	0.517000													62	130					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902250	54902250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54902250G>A	ENST00000293373.6	+	5	520	c.441G>A	c.(439-441)cgG>cgA	p.R147R	NCKAP1L_ENST00000545638.2_Silent_p.R97R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	147					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCTGTCACGGATTGAAGATC	0.423000													93	213					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280373	32280373	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32280373C>T	ENST00000360482.2	-	2	691	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SPOCD1_ENST00000533231.1_Missense_Mutation_p.E188K|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.E188K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	188					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGGGGCTCCTCTTTGCTG	0.592000													69	128					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044109	2044109	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2044109G>A	ENST00000262113.4	+	18	2289	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	MYOM2_ENST00000523438.1_Silent_p.G141G	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	716	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCTTATGGGATTACGCTCC	0.617000													95	146					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846481	228846481	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228846481C>T	ENST00000392056.3	-	12	5101	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q	SPHKAP_ENST00000344657.5_Silent_p.Q1656Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1685						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCCATCCTTCTGCTCCTCAT	0.448000													44	67					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267101	3267101	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3267101G>A	ENST00000602557.1	-	14	2146	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P531S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P530S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P531S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P530S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P530S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P531S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	531	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGATTCCAGGATCCCCACAC	0.473000													12	16					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862720	5862720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5862720C>T	ENST00000329322.5	-	1	407	c.408G>A	c.(406-408)atG>atA	p.M136I	OR52E6_ENST00000379946.2_Missense_Mutation_p.M140I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGGATCATGGTGTACC	0.478000													85	92					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000981	142000981	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142000981C>T	ENST00000455382.2	+	0	147																											TGAAGTCACCCAGACTCCCAG	0.418000													13	37					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78383207	78383207	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:78383207G>A	ENST00000278550.7	-	31	6126	c.5664C>T	c.(5662-5664)tcC>tcT	p.S1888S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AACCCCCAGGGGAGTATGTCA	0.587000													20	47					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40959706	40959706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40959706G>A	ENST00000313164.9	+	12	2004	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	549	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CGAAGATGAGGAGCTGGAGCA	0.522000													9	24					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205608	32205608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32205608G>A	ENST00000373658.3	-	14	2427	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	BAI2_ENST00000257070.4_Missense_Mutation_p.R696C|BAI2_ENST00000527361.1_Missense_Mutation_p.R696C|BAI2_ENST00000398542.1_Missense_Mutation_p.R629C|BAI2_ENST00000440175.2_Missense_Mutation_p.R338C|BAI2_ENST00000398556.3_Missense_Mutation_p.R644C|BAI2_ENST00000398547.1_Missense_Mutation_p.R629C|BAI2_ENST00000373655.2_Missense_Mutation_p.R696C|BAI2_ENST00000398538.1_Missense_Mutation_p.R684C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	696					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCCACGACACGGAGCAGGTGC	0.587000													21	41					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639267	18639267	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:18639267C>T	ENST00000380548.4	+	7	1031	c.692C>T	c.(691-693)aCc>aTc	p.T231I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.T231I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.T231I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.T231I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	231						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAAACCAAAACCCTCCAGGGG	0.428000													17	17					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8137963	8137963	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8137963A>C	ENST00000600128.1	-	62	8335	c.7921T>G	c.(7921-7923)Ttc>Gtc	p.F2641V	FBN3_ENST00000601739.1_Missense_Mutation_p.F2641V|FBN3_ENST00000270509.2_Missense_Mutation_p.F2641V			Q75N90	FBN3_HUMAN	fibrillin 3	2641	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCAGCCCGGAAGTAGCCTTGA	0.647000													35	141					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722310	58722310	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58722310C>T	ENST00000300079.5	+	5	397	c.347C>T	c.(346-348)tCa>tTa	p.S116L	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.S85L	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	85						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCTCAAAAATCAGAAGAAGTT	0.398000													25	57					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396230	1396230	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1396230G>A	ENST00000378785.2	+	10	1908	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	305							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGGCAGGAGGAGCGGGCGCG	0.607000													26	47					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622415	234622415	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234622415G>A	ENST00000373414.3	+	1	778	c.778G>A	c.(778-780)Gac>Aac	p.D260N	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GTTCCGAGGGGACTTTGTGAT	0.522000													101	210					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55497631	55497631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55497631C>T	ENST00000543010.1	+	8	2457	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S	NLRP2_ENST00000263437.6_Missense_Mutation_p.P769S|NLRP2_ENST00000427260.2_Missense_Mutation_p.P749S|NLRP2_ENST00000537859.1_Missense_Mutation_p.P750S|NLRP2_ENST00000339757.7_Missense_Mutation_p.P750S|NLRP2_ENST00000538819.1_Missense_Mutation_p.P748S|NLRP2_ENST00000391721.4_Missense_Mutation_p.P748S|NLRP2_ENST00000448584.2_Missense_Mutation_p.P772S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	772					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGATATGTTTCCCGCATTGTG	0.443000													28	81					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187073146	187073146	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187073146C>T	ENST00000356371.5	+	4	906	c.906C>T	c.(904-906)acC>acT	p.T302T	FAM149A_ENST00000514153.1_Silent_p.T11T|FAM149A_ENST00000502970.1_Silent_p.T11T|FAM149A_ENST00000503432.1_Silent_p.T11T|FAM149A_ENST00000227065.4_Silent_p.T11T|FAM149A_ENST00000389354.5_Silent_p.T11T|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	302										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ACCCTCAGACCCAGAGTCTGC	0.517000													17	73					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42392168	42392168	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42392168C>T	ENST00000599846.1	+	2	140	c.15C>T	c.(13-15)gcC>gcT	p.A5A	ARHGEF1_ENST00000337665.4_Silent_p.A20A|ARHGEF1_ENST00000354532.3_Silent_p.A5A|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000378152.4_Silent_p.A20A|ARHGEF1_ENST00000347545.4_Silent_p.A5A			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	5					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AAGACTTCGCCCGAGGGGCGG	0.652000													32	42					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256380	84256380	+	Missense_Mutation	SNP	C	C	T	rs142789456		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:84256380C>T	ENST00000308251.4	-	3	1071	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	335						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACACGCAGGACCAGCCCCACC	0.697000													3	15					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436532	56436532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:56436532G>A	ENST00000327381.5	+	3	1799	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	567						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCAGAGCGGGATGGGTGTGT	0.542000													47	63					0	0	1	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132334420	132334420	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:132334420G>A	ENST00000324170.3	-	4	434	c.368C>T	c.(367-369)tCc>tTc	p.S123F	ZCCHC10_ENST00000509437.1_Missense_Mutation_p.S145F|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S139F|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S109F	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	145	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ggaactagaggagCTTTCATC	0.493000													14	34					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108789	169108789	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:169108789A>T	ENST00000256935.8	+	7	592	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	171					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGACGGAAATATCTTGGAC	0.418000													50	117					0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184431719	184431719	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:184431719C>G	ENST00000302327.3	+	2	659	c.457C>G	c.(457-459)Cgc>Ggc	p.R153G	ING2_ENST00000434682.2_Missense_Mutation_p.R113G	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	153					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAGAAGACCCCGCAGGCAGCG	0.463000													30	40					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556612	52556612	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52556612G>A	ENST00000262094.5	+	6	1146	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	209					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.E209*(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTGGATGGGGAAAAGCCACC	0.393000													4	80					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101611898	101611898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:101611898G>A	ENST00000335681.5	+	21	2614	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	NPAS2_ENST00000542504.1_Missense_Mutation_p.D842N|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	777					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAGCAGCAGGACTCGCTACT	0.567000													46	102					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212846	71212846	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:71212846C>G	ENST00000393567.2	-	4	516	c.366G>C	c.(364-366)ttG>ttC	p.L122F	HYDIN_ENST00000393550.2_Missense_Mutation_p.L122F|HYDIN_ENST00000538248.1_Missense_Mutation_p.L149F|HYDIN_ENST00000321489.5_Missense_Mutation_p.L122F|HYDIN_ENST00000448691.1_Missense_Mutation_p.L122F|HYDIN_ENST00000448089.2_Missense_Mutation_p.L122F|HYDIN_ENST00000288168.10_Missense_Mutation_p.L139F|HYDIN_ENST00000541601.1_Missense_Mutation_p.L139F	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGTTCCTCAAAATCAGTG	0.403000													4	114					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245422	59245422	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59245422C>T	ENST00000530162.1	+	1	577	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	174					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						ACCCAATGTTCTTGACACTTT	0.502000													73	110					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115338471	115338471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115338471G>A	ENST00000351270.3	+	7	750	c.654G>A	c.(652-654)tgG>tgA	p.W218*	HABP2_ENST00000541666.1_Nonsense_Mutation_p.W218*|HABP2_ENST00000542051.1_Nonsense_Mutation_p.W192*|HABP2_ENST00000537906.1_3'UTR	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	218	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GCCTTTACTGGAACTCCCACC	0.478000													5	131					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172563838	172563838	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:172563838C>T	ENST00000534253.2	+	5	454	c.286C>T	c.(286-288)Cca>Tca	p.P96S	DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P96S|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P108S|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P96S|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P108S|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P90S|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P96S			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	96					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGTGAGCACTCCAAGTGAAGC	0.453000													11	103					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298958	58298958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:58298958G>A	ENST00000377918.3	+	4	3036	c.3010G>A	c.(3010-3012)Gac>Aac	p.D1004N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1004					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTTGGAAAAGACAAGCGAGA	0.433000													32	69					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041590	184041590	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184041590C>T	ENST00000342981.4	+	15	2714	c.2300C>T	c.(2299-2301)tCc>tTc	p.S767F	EIF4G1_ENST00000352767.3_Missense_Mutation_p.S773F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S602F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S680F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S679F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S571F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S570F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S603F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S766F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S726F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S727F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S766F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S773F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S773F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	766	MIF4G.|eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGTGCGCTCCATCCTGAAT	0.572000													49	72					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032286	9032286	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9032286G>A	ENST00000383836.3	-	21	3223	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	SRGAP3_ENST00000360413.3_Silent_p.S908S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	932					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTGCCCTTCGGAGAGCGCCT	0.652000			T	RAF1	pilocytic astrocytoma								6	17					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511096	48511096	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48511096C>T	ENST00000446524.1	+	1	828	c.752C>T	c.(751-753)cCt>cTt	p.P251L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTCTTTGTTCCTTGTATTTTT	0.428000													26	254					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039189	11039189	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11039189G>A	ENST00000470054.1	-	0	1014									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGAGTGACAGATTCAATGAC	0.428000													27	477					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642819	39642819	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39642819G>A	ENST00000393986.2	-	8	1275	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	KRT36_ENST00000328119.6_Missense_Mutation_p.P405S			O76013	KRT36_HUMAN	keratin 36	405	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTTGGGGAGGAAGCCTGAGG	0.577000													8	13					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121361780	121361780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121361780G>A	ENST00000314583.3	-	6	539	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Nonsense_Mutation_p.Q150*	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	150					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTGCCTTTCTGAGATGTGTGC	0.458000													50	104					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40827876	40827876	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40827876C>T	ENST00000582783.1	-	9	1194	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	C19orf47_ENST00000584868.1_Intron|C19orf47_ENST00000392035.2_Silent_p.G327G	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	394										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TGGAGCTGCTCCCCCGGGGCC	0.642000													23	45					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662760	662760	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:662760G>A	ENST00000266383.5	+	14	1684	c.1671G>A	c.(1669-1671)agG>agA	p.R557R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	557						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACAGCCCCAGGAAGACTCAGT	0.642000													38	67					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242423731	242423731	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242423731C>T	ENST00000264042.3	+	21	2576	c.2406C>T	c.(2404-2406)ccC>ccT	p.P802P		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	802	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCCTCCTTCCCCTCCAAGGCA	0.577000													24	59					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937418	82937418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82937418G>A	ENST00000274341.4	-	5	1812	c.962C>T	c.(961-963)cCa>cTa	p.P321L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	321	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCGCCTTCTTGGCCTAGAGAT	0.537000													86	161					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196771633	196771633	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196771633C>T	ENST00000312428.6	-	26	4305	c.4205G>A	c.(4204-4206)aGa>aAa	p.R1402K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1402	AAA 1 (By similarity).				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						TCCATTACCTCTTTGGATAGT	0.373000													18	37					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003021	122003021	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122003021G>A	ENST00000498619.1	+	7	2688	c.2250G>A	c.(2248-2250)gtG>gtA	p.V750V	CASR_ENST00000490131.1_Silent_p.V740V|CASR_ENST00000296154.5_Silent_p.V740V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	740					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATCTGTGTGATCTGGCTCT	0.592000													30	58					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167064092	167064092	+	Silent	SNP	G	G	A	rs150412578	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167064092G>A	ENST00000361200.2	+	2	172	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DUSP27_ENST00000443333.1_Silent_p.A2A|DUSP27_ENST00000271385.5_Silent_p.A2A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	2					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGTCATGGCGACCAGAAAGG	0.552000													10	17					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882420	228882420	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228882420C>T	ENST00000392056.3	-	7	3196	c.3150G>A	c.(3148-3150)acG>acA	p.T1050T	SPHKAP_ENST00000344657.5_Silent_p.T1050T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1050						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGAGAACTCCGTTAGGTTCA	0.542000													51	104					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19171065	19171065	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19171065C>T	ENST00000263200.10	-	30	4737	c.4665G>A	c.(4663-4665)caG>caA	p.Q1555Q	CLTCL1_ENST00000353891.5_Silent_p.Q1498Q|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Silent_p.Q1555Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1555	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCAGGAACCACTGCAGCAACT	0.597000			T	?	ALCL								27	65					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806700	14806700	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14806700G>A	ENST00000380881.4	-	19	4051	c.3236C>T	c.(3235-3237)cCt>cTt	p.P1079L	FREM1_ENST00000422223.2_Missense_Mutation_p.P1078L|FREM1_ENST00000380880.3_Missense_Mutation_p.P1078L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1078					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCACAGAAGGGAGTATATT	0.428000													6	6					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34884512	34884512	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34884512G>A	ENST00000360581.1	+	7	890	c.762G>A	c.(760-762)ggG>ggA	p.G254G	NPSR1_ENST00000381539.3_Silent_p.G254G|NPSR1_ENST00000359791.1_Silent_p.G254G|NPSR1_ENST00000381542.1_Silent_p.G188G|NPSR1_ENST00000531252.1_Silent_p.G243G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACAGATGGGAAACTGTGCA	0.403000													34	77					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226575	23226575	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23226575C>T	ENST00000300061.2	+	13	1878	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	579					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAAACAGGCTCCCCCATGTCC	0.562000													5	178					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756722	248756722	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248756722G>A	ENST00000330500.2	-	1	378	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AGGCCATGGCGGCTAGAAGGC	0.562000													12	91					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214689	45214689	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45214689C>T	ENST00000066544.3	-	14	1835	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	CDC27_ENST00000527547.1_Missense_Mutation_p.R580Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R520Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R587Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	581					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATCATGTTCCCGTTGCAGACT	0.358000													4	81					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101433734	101433734	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101433734G>A	ENST00000392979.3	+	10	1155	c.792_splice	c.e10-1	p.G265_splice	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.G300_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	300						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTATCCCAGGGAAGTTATAGA	0.453000										HNSCC(74;0.22)			52	108					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719093	21719093	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:21719093C>T	ENST00000358491.4	+	4	446	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGTGTGTTCTCATTTTGCTGA	0.308000													18	47					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84649786	84649786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:84649786C>T	ENST00000370689.2	+	4	568	c.304C>T	c.(304-306)Cct>Tct	p.P102S	PRKACB_ENST00000370685.3_Missense_Mutation_p.P149S|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.P108S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P102S|PRKACB_ENST00000394838.2_Missense_Mutation_p.P109S|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370682.3_Missense_Mutation_p.P106S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	102	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AGTGAATTTTCCTTTCCTTGT	0.264000													4	125					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568245	131568245	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131568245C>T	ENST00000372648.5	+	10	1176	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	TBC1D13_ENST00000539497.1_Silent_p.F161F|TBC1D13_ENST00000223865.8_Silent_p.F217F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	342	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCCTCTTCGCCGATGACA	0.582000													7	89					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917170	47917170	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47917170G>A	ENST00000289672.2	-	22	3630	c.3580C>T	c.(3580-3582)Cgg>Tgg	p.R1194W		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1194	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCATGTCCCGAGGAGCCGGG	0.542000													48	94					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858057	154858057	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:154858057C>T	ENST00000460393.1	+	10	1053	c.933C>T	c.(931-933)aaC>aaT	p.N311N	MME_ENST00000493237.1_Silent_p.N311N|MME_ENST00000492661.1_Silent_p.N311N|MME_ENST00000360490.2_Silent_p.N311N|MME_ENST00000462745.1_Silent_p.N311N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	311					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAAAATAACTTTTCACTAG	0.328000													12	37					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067749	190067749	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:190067749G>A	ENST00000367462.3	-	8	1931	c.1700C>T	c.(1699-1701)cCa>cTa	p.P567L	FAM5C_ENST00000534846.1_Missense_Mutation_p.P465L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		567						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCCAACACTGGCTCCAAGGT	0.458000													83	109					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109723196	109723196	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109723196G>A	ENST00000299162.5	-	8	918	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	FOXN4_ENST00000355216.1_Silent_p.L92L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	272					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						ATGCGGGCCAGGTTCAGAGCC	0.607000													20	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651035	11651035	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11651035G>A	ENST00000262442.3	+	32	6630	c.6562G>A	c.(6562-6564)Gat>Aat	p.D2188N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2188N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2188	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCACAAATGATGAGCTCTT	0.522000													24	59					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97194269	97194269	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97194269C>T	ENST00000389672.5	+	8	2006	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	EPHA6_ENST00000514100.1_Silent_p.L48L|EPHA6_ENST00000442602.2_Silent_p.L22L|EPHA6_ENST00000502694.1_Silent_p.L48L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	561	Protein kinase.					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						TCACTCTCCTCGTCATCCTCA	0.403000													8	21					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718345	103718345	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:103718345G>A	ENST00000245312.3	-	1	851	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	85					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCACCGACAGGATGAATCCTG	0.527000													15	105					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091402	9091402	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9091402C>T	ENST00000397910.4	-	1	616	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	138	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						GGTAAAATTTCCTTCTGTGGA	0.493000													23	56					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925248	66925248	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66925248G>A	ENST00000269080.2	-	8	1204	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ABCA8_ENST00000430352.2_Missense_Mutation_p.S356F|ABCA8_ENST00000586539.1_Missense_Mutation_p.S356F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	356						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCACTCCAAGGATGCAGGAAG	0.478000													29	75					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201527596	201527596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:201527596G>A	ENST00000374700.2	+	31	3688	c.3447G>A	c.(3445-3447)atG>atA	p.M1149I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1149					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGTCAGACATGAACTGGGAGA	0.468000													38	80					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39517893	39517893	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:39517893G>A	ENST00000537403.1	-	11	2296	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	SEC23A_ENST00000545328.2_Missense_Mutation_p.S538F|SEC23A_ENST00000307712.6_Missense_Mutation_p.S567F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S441F			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	567					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAATCTGAAGGAACTTGGGTC	0.318000													4	75					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847405	28847405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28847405C>T	ENST00000336783.4	+	22	3214	c.3047C>T	c.(3046-3048)tCc>tTc	p.S1016F	ATXN2L_ENST00000395547.2_Missense_Mutation_p.S1016F|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S1016F|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S1016F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S1016F|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S1016F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S1022F	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1016						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCTCAGCTTCCACACCCTCA	0.672000													61	129					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409352	47409352	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:47409352C>T	ENST00000378688.4	-	3	1167	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	HTR2A_ENST00000542664.1_Missense_Mutation_p.A346T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A262T			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	346					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAGATGACGGCCATGATGTTT	0.493000													46	98					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186672	7186672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7186672C>T	ENST00000317370.8	+	2	410	c.142C>T	c.(142-144)Cct>Tct	p.P48S	SLC2A4_ENST00000424875.2_Missense_Mutation_p.P38S|SLC2A4_ENST00000571308.1_Missense_Mutation_p.P48S|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	48					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATCAATGCCCCTCAGAAGGT	0.612000													54	75					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057362	5057362	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:5057362C>T	ENST00000251170.7	+	13	1627	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	483						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GTGTAATGTCCCCGAAGGAGG	0.597000													5	28					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839490	42839490	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42839490A>C	ENST00000334370.4	+	5	1416	c.781A>C	c.(781-783)Aac>Cac	p.N261H	MEGF8_ENST00000251268.6_Missense_Mutation_p.N261H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	261						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGTCCTATACAACTTCTCCGC	0.617000													37	77					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262552	45262552	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:45262552C>T	ENST00000303230.4	-	8	2201	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	715						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R715Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGAAAGTTCGAGCGGCCAG	0.647000													16	65					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230056	38230056	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38230056C>T	ENST00000339503.4	-	8	1662	c.1161G>A	c.(1159-1161)aaG>aaA	p.K387K	ZNF573_ENST00000536220.1_Silent_p.K357K|ZNF573_ENST00000392138.1_Silent_p.K358K|ZNF573_ENST00000357309.3_Silent_p.K357K|ZNF573_ENST00000590414.2_Silent_p.K445K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTACACTCCTTACATTCAA	0.368000													61	141					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854196	12854196	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12854196G>A	ENST00000332296.7	+	3	523	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	140										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTCCAAGGATGGGAGAGC	0.532000													15	439					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46319060	46319060	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46319060G>A	ENST00000397850.2	-	9	1367	c.915C>T	c.(913-915)ggC>ggT	p.G305G	ITGB2_ENST00000397857.1_Silent_p.G305G|ITGB2_ENST00000355153.4_Silent_p.G305G|ITGB2_ENST00000397854.3_Silent_p.G248G|ITGB2_ENST00000302347.5_Silent_p.G305G|ITGB2_ENST00000397852.1_Silent_p.G305G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	305	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCGCCAGCTGGCCCACCGATG	0.627000													21	46					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273253	125273253	+	Missense_Mutation	SNP	C	C	T	rs150299329		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125273253C>T	ENST00000335302.5	+	1	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTTCACACCCCCATGTACTTC	0.527000													39	196					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36945899	36945899	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36945899G>A	ENST00000373627.5	-	4	670	c.546C>T	c.(544-546)tcC>tcT	p.S182S	MTCH1_ENST00000373616.5_Silent_p.S182S|MTCH1_ENST00000538808.1_Silent_p.S26S	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	182					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CATCCTTGTTGGAAACCTGCT	0.502000													24	107					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163250930	163250930	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163250930C>T	ENST00000332142.5	-	12	2778	c.2679G>A	c.(2677-2679)agG>agA	p.R893R		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	893					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGACAATTTCCTTCTTCTTA	0.333000													36	31					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2823435	2823435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2823435G>A	ENST00000602557.1	-	60	9700	c.9145C>T	c.(9145-9147)Cag>Tag	p.Q3049*	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q3048*|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q3049*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3049	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCCAAACTGGATGCCATTT	0.433000													6	16					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985275	36985275	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36985275G>A	ENST00000282516.8	+	10	2492	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E665K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	665					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.E665K(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAACAAAACGAGAGCACCAT	0.343000													5	184					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14613956	14613956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:14613956C>T	ENST00000403951.2	-	20	2073	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	DGKB_ENST00000402815.1_Missense_Mutation_p.E551K|DGKB_ENST00000444700.2_Missense_Mutation_p.E533K|DGKB_ENST00000407950.1_Missense_Mutation_p.E544K|DGKB_ENST00000258767.5_Missense_Mutation_p.E552K|DGKB_ENST00000406247.3_Missense_Mutation_p.E552K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.E552K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	552	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTGCTGTTTTCAATGTCTTTT	0.348000													47	93					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34552687	34552687	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:34552687C>T	ENST00000378980.3	-	8	1227	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CNTFR_ENST00000351266.4_Missense_Mutation_p.E312K	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	312					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCCTGGGCCTCCGTGGTGAGG	0.647000													35	47					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945126	55945126	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55945126G>A	ENST00000394256.2	+	1	144	c.116G>A	c.(115-117)gGa>gAa	p.G39E	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGTATCCTAGGAAATCTGACT	0.418000													90	201					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050038	9050038	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9050038G>A	ENST00000397910.4	-	5	31796	c.31593C>T	c.(31591-31593)ttC>ttT	p.F10531F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10533	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						GAACATCAGGGAAAACATATG	0.478000													137	270					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87567117	87567117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:87567117C>T	ENST00000521271.1	+	15	1321	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	CPNE3_ENST00000198765.4_Missense_Mutation_p.P387S	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	387	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GTCTTGTCTTCCTCAGATAAA	0.398000													50	103					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170952642	170952642	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:170952642G>A	ENST00000367759.4	+	9	850	c.696G>A	c.(694-696)aaG>aaA	p.K232K	MROH9_ENST00000367758.3_Silent_p.K232K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.K232N(2)									TTCTACCCAAGGAGTTTCAAC	0.363000													20	61					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086317	55086317	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55086317G>A	ENST00000251377.3	+	5	605	c.472G>A	c.(472-474)Gga>Aga	p.G158R	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G158R|LILRA2_ENST00000391737.1_Missense_Mutation_p.G146R|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G158R					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGTAAGGAAGGAGAAGATGA	0.602000													77	180					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518235	107518235	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:107518235G>A	ENST00000265840.7	+	7	727	c.462G>A	c.(460-462)cgG>cgA	p.R154R	ELMOD1_ENST00000531234.1_Silent_p.R148R|ELMOD1_ENST00000443271.2_Silent_p.R154R	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	154	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGGAATCTCGGATTTCTAAGC	0.388000													21	20					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29450499	29450499	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29450499C>T	ENST00000389048.3	-	17	3761	c.2855G>A	c.(2854-2856)gGg>gAg	p.G952E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	952					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)	CCCATCTTCCCCATCCATTTC	0.507000			"""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				51	102					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261210	51261210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:51261210G>A	ENST00000395542.2	-	3	506	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	COBL_ENST00000441453.1_Missense_Mutation_p.R108W|COBL_ENST00000395540.2_Missense_Mutation_p.R108W|COBL_ENST00000265136.7_Missense_Mutation_p.R108W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	108										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTGAAGACCGAATTTCAAGG	0.418000													24	56					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81888120	81888120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81888120C>T	ENST00000359376.3	+	3	479	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	89	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AAAAGCAGTTCGCCAGAAAGA	0.458000													67	60					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622946	46622946	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:46622946G>A	ENST00000398637.5	-	5	998	c.304C>T	c.(304-306)Cta>Tta	p.L102L	SLC38A1_ENST00000549049.1_Silent_p.L102L|SLC38A1_ENST00000439706.1_Silent_p.L102L|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.L102L|SLC38A1_ENST00000546893.1_Silent_p.L102L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	102					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGAAAAAGTAGGATTCCAGTG	0.388000													11	30					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191923489	191923489	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:191923489T>C	ENST00000392320.2	-	11	1355	c.1041A>G	c.(1039-1041)ctA>ctG	p.L347L	STAT4_ENST00000358470.4_Silent_p.L347L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	347					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAATTTTATTAGTAGCCTGG	0.239000													9	26					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554291	28554291	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28554291C>T	ENST00000452236.2	-	1	821	c.204G>A	c.(202-204)gaG>gaA	p.E68E	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	68	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GACTCAGAGCCTCCCTGGGCC	0.532000													41	125					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433273	104433273	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:104433273C>T	ENST00000361820.3	-	3	2021	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	474					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATTGGCTTTCCCATGGGGTC	0.502000													80	181					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911605	107911605	+	Missense_Mutation	SNP	C	C	T	rs104886391		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107911605C>T	ENST00000328300.6	+	41	3905	c.3661C>T	c.(3661-3663)Cca>Tca	p.P1221S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1221S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1221	Triple-helical region.				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						CCTTCCAGGTCCAAAGGGCGA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				19	11					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517843	79517843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79517843C>T	ENST00000537152.1	-	3	749	c.224G>A	c.(223-225)gGg>gAg	p.G75E	C17orf70_ENST00000327787.8_Missense_Mutation_p.G226E	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	226					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AAAGAGGAGCCCGAAGAGGGC	0.642000													24	46					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323685	145323685	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145323685C>T	ENST00000342960.5	+	27	3557	c.3522C>T	c.(3520-3522)gaC>gaT	p.D1174D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1174										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAAGAAGACCAAGACCCAC	0.468000													70	1569					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430546	49430546	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:49430546G>A	ENST00000299191.3	+	4	724	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	203										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ACCTAAGATGGAAACCATGAG	0.552000													14	15					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25124351	25124351	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25124351C>T	ENST00000332271.5	-	15	2141	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	PIWIL3_ENST00000533313.1_Intron|PIWIL3_ENST00000527701.1_Intron|PIWIL3_ENST00000532537.2_Intron	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	575					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTTGAAAACCAGCAAACATG	0.408000													34	94					0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118023336	118023336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:118023336C>T	ENST00000324727.4	-	1	199	c.53G>A	c.(52-54)gGg>gAg	p.G18E	SCN4B_ENST00000529878.1_Missense_Mutation_p.G18E	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	18						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		ACCCAAAAGCCCAGTGCCCAG	0.657000													9	20					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689789	189689789	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189689789C>T	ENST00000319332.5	-	12	1904	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	LEPREL1_ENST00000427335.2_Silent_p.Q388Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	569	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCTTCTATCCTGCTGACCTG	0.473000													14	28					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46974998	46974998	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46974998C>T	ENST00000371253.2	-	12	2739	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N	GPR110_ENST00000283297.5_Missense_Mutation_p.D645N|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	842					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTACTGTCCAAGAGTATT	0.328000													24	73					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171686043	171686043	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171686043G>A	ENST00000358196.3	+	4	754	c.204G>A	c.(202-204)aaG>aaA	p.K68K	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Silent_p.K68K|GAD1_ENST00000344257.5_Silent_p.K68K	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	68				K -> R (in Ref. 2; AAA62368).	glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGCCTTCAAGGAGAGGCAAT	0.532000													51	116					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846379	55846379	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55846379C>A	ENST00000322678.1	+	1	382	c.382C>A	c.(382-384)Ctt>Att	p.L128I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGTAAACCCCTTCATTATGT	0.433000													42	121					2.64894e-19	2.67506e-19	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:17228396G>A	ENST00000261381.6	-	9	2045	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	654					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627000													44	118					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105923972	105923972	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105923972C>A	ENST00000357060.3	-	24	3241	c.3126G>T	c.(3124-3126)aaG>aaT	p.K1042N	WDR96_ENST00000428666.1_Missense_Mutation_p.K1043N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1042										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						CATTTCTTTCCTTCACGCGTG	0.353000													14	29					0.000151284	0.000151748	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78638703	78638703	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78638703G>A	ENST00000545128.1	+	4	999	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PCSK5_ENST00000376767.3_Missense_Mutation_p.G154E|PCSK5_ENST00000376752.4_Missense_Mutation_p.G154E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	154	Catalytic.				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	extracellular space|Golgi lumen|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						AATATCGAAGGAGCCTGGAAG	0.453000													55	105					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7684526	7684526	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:7684526G>A	ENST00000507866.2	+	10	1507	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	SORCS2_ENST00000329016.9_Missense_Mutation_p.M294I	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	466						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAAAGTGATGACGCTTATAA	0.468000													16	16					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59752248	59752248	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59752248C>T	ENST00000288228.5	+	3	324	c.137C>T	c.(136-138)gCc>gTc	p.A46V		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	46										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ACCACCGCCGCCCTCGTAGAG	0.537000													14	41					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775164	73775164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73775164G>A	ENST00000254810.4	-	2	224	c.92C>T	c.(91-93)cCc>cTc	p.P31L	H3F3B_ENST00000589599.1_Missense_Mutation_p.P31L|H3F3B_ENST00000586607.1_Missense_Mutation_p.P31L|H3F3B_ENST00000587560.1_Missense_Mutation_p.P31L|H3F3B_ENST00000591890.1_Missense_Mutation_p.P31L|H3F3B_ENST00000592643.1_Missense_Mutation_p.P31L|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	31					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGTAGAGGGAGCGCTTTT	0.637000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	72					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767209	23767209	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23767209C>T	ENST00000300113.2	+	3	605	c.182C>T	c.(181-183)cCc>cTc	p.P61L		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	61	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCCGTGAACCCCCTGGGAGAC	0.587000													22	52					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236944	42236944	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42236944C>T	ENST00000541110.1	-	5	953	c.385G>A	c.(385-387)Gag>Aag	p.E129K	TRERF1_ENST00000340840.2_Missense_Mutation_p.E129K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E129K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E129K|TRERF1_ENST00000372922.4_Missense_Mutation_p.E129K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	129					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCCGGATCTCGCTGGCCTGG	0.547000													107	444					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103474025	103474025	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103474025G>A	ENST00000428762.1	-	3	591	c.432C>T	c.(430-432)atC>atT	p.I144I	RELN_ENST00000424685.2_Silent_p.I144I|RELN_ENST00000343529.5_Silent_p.I144I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	144	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAGCAATCCAGATGAAACTGA	0.488000													32	72					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884145	36884145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36884145C>T	ENST00000429976.2	-	17	5363	c.5116G>A	c.(5116-5118)Gga>Aga	p.G1706R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1156R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G1156R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1706					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGTAATCTCCCTGTGCAATC	0.498000													4	38					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725385	4725385	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:4725385C>T	ENST00000354582.6	+	28	3751	c.3401C>T	c.(3400-3402)tCc>tTc	p.S1134F	ITPR1_ENST00000443694.2_Missense_Mutation_p.S1119F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1110F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1125F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S1119F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S1125F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1134					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	p.S1125Y(1)|p.S1110Y(1)|p.S1119Y(1)		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)		CAACTGAGGTCCATCGTGGAA	0.468000													49	83					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540335	96540335	+	Silent	SNP	C	C	T	rs145272564		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96540335C>T	ENST00000371321.3	+	4	643	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	187					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)	AGAAACGTTTCGATTATAAAG	0.403000													80	125					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119526035	119526035	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:119526035C>T	ENST00000368468.3	-	7	1446	c.1005G>A	c.(1003-1005)agG>agA	p.R335R		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	335					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AGGGCCAGTTCCTTCCAATAC	0.443000													31	74					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117415	47117415	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:47117415G>A	ENST00000562435.1	-	9	1679	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	NETO2_ENST00000303155.5_Missense_Mutation_p.S425F	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	432						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GATGCAGCGGGAGGCGGTGGA	0.532000										HNSCC(25;0.065)			13	102					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291379	154291379	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:154291379G>A	ENST00000285873.7	-	15	2150	c.2075C>T	c.(2074-2076)cCt>cTt	p.P692L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	692					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATCCAAAGGAGACCATGC	0.532000													29	49					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58455307	58455307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58455307G>A	ENST00000282308.3	-	2	351	c.155C>T	c.(154-156)tCc>tTc	p.S52F	ZNF256_ENST00000598928.1_Intron	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	52	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTTACCCAGGGAGGTTGTAAG	0.512000													41	90					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943837	1943837	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:1943837G>A	ENST00000543818.1	+	5	1905	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.D355N|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.D355N|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	355						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGATGGGGGACCCCGAGGG	0.652000													8	98					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36182008	36182008	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36182008C>T	ENST00000274255.6	+	10	1346	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Missense_Mutation_p.P177S|SKP2_ENST00000546211.1_Missense_Mutation_p.P170S	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	384					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGCCCTTCCTCATCTACA	0.443000													48	164					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752242	13752242	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13752242C>T	ENST00000265104.4	-	64	11133		c.e64+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					GTTTAACCTACCTTAAAGGTA	0.383000									Kartagener syndrome				26	27					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718417	142718417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:142718417G>A	ENST00000381779.4	-	2	733	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L170F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L170F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	170						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTATCAGGAAGGAATGAAATC	0.403000													58	30					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189928722	189928722	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189928722C>T	ENST00000374866.3	-	26	2028	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	585					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAAGTTTTCCTTCAGGACC	0.333000													15	36					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328195	57328195	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57328195C>T	ENST00000326441.9	-	10	1978	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E413K|PEG3_ENST00000598410.1_Missense_Mutation_p.E415K|PEG3_ENST00000423103.2_Missense_Mutation_p.E539K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	539					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCACATTCCTGATTCTTA	0.443000													78	150					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55310786	55310786	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:55310786G>A	ENST00000491895.2	-	6	890	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GCH1_ENST00000543643.2_Intron|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Silent_p.F234F|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	234			F -> S (in DYT5).		dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						GATCCTCCCGGAACACACCCA	0.478000													49	102					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244187	56244187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56244187G>A	ENST00000332836.2	-	2	1037	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	337	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCACGTAAAGGGATTATGGCA	0.428000													52	132					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891133	32891133	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:32891133G>A	ENST00000330048.5	-	0	2925					NR_003083.2																						TCACCATGGAGAGATCAATGA	0.602000													43	102					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173816	126173816	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:126173816G>A	ENST00000339582.2	-	9	2428	c.1620C>T	c.(1618-1620)cgC>cgT	p.R540R	GRM8_ENST00000358373.3_Silent_p.R540R|GRM8_ENST00000444921.2_Silent_p.R540R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	540					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACCTTCACAGCGTTCACAGT	0.562000										HNSCC(24;0.065)			54	155					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123244973	123244973	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123244973C>T	ENST00000358487.5	-	16	2403	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	FGFR2_ENST00000357555.5_Missense_Mutation_p.E622K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E712K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E599K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E623K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E712K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E595K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E709K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E594K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E483K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E709K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E597K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	711	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTAAAAAGTTCCTCCACGGGA	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				50	98					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847850	215847850	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:215847850C>T	ENST00000366943.2	-	63	13789	c.13403G>A	c.(13402-13404)aGa>aAa	p.R4468K	USH2A_ENST00000307340.3_Missense_Mutation_p.R4468K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4468	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTGGGTTTCTTGGAGGTTT	0.458000										HNSCC(13;0.011)			24	211					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34110877	34110877	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:34110877G>A	ENST00000389232.4	+	76	10768	c.10698G>A	c.(10696-10698)acG>acA	p.T3566T	RYR3_ENST00000415757.3_Silent_p.T3561T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3566					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3565T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCTCTCACGGAGAGGAGGT	0.517000													12	32					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537813	55537813	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55537813G>A	ENST00000220676.1	+	4	1519	c.1371G>A	c.(1369-1371)gtG>gtA	p.V457V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	457					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)			TAAGAAGAGTGAGACAAAAGA	0.418000													40	69					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166150047	166150047	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166150047T>A	ENST00000226725.6	+	3	500	c.241T>A	c.(241-243)Ttt>Att	p.F81I	KLHL2_ENST00000421009.2_Silent_p.I24I|KLHL2_ENST00000514860.1_Missense_Mutation_p.F85I|KLHL2_ENST00000538127.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	81	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TAGTCCTTATTTTCATGCCAT	0.353000													9	30					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445364	10445364	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:10445364G>A	ENST00000326756.3	-	3	3027	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTCCATACAAGAGGCCAGTTT	0.423000													29	83					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153431746	153431746	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:153431746C>T	ENST00000288670.9	+	7	1060	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	231	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase 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						TACGTGCCATCATGAATTATC	0.383000													5	9					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33682434	33682434	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:33682434C>T	ENST00000321505.4	+	19	5322	c.5142C>T	c.(5140-5142)gcC>gcT	p.A1714A	KIAA1549L_ENST00000389726.3_Silent_p.A1720A					KIAA1549-like																		CAGTGTTCGCCATCCCAGCTG	0.557000													9	40					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080307	29080307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29080307C>T	ENST00000377169.1	+	1	640	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTCATACCTCTCATCCTCAT	0.458000													22	122					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074905	54074905	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54074905G>T	ENST00000253144.9	+	6	1390	c.57G>T	c.(55-57)gaG>gaT	p.E19D	ZNF331_ENST00000513999.1_Missense_Mutation_p.E19D|ZNF331_ENST00000513265.1_Missense_Mutation_p.E19D|ZNF331_ENST00000511593.2_Missense_Mutation_p.E19D|ZNF331_ENST00000511154.1_Missense_Mutation_p.E19D|ZNF331_ENST00000411977.2_Missense_Mutation_p.E19D|ZNF331_ENST00000449416.1_Missense_Mutation_p.E19D|ZNF331_ENST00000512387.1_Missense_Mutation_p.E19D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTCAGGAGGAGTGGGCCTGTC	0.512000			T	?	follicular thyroid adenoma								141	260					7.32028e-54	7.41407e-54	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23797526	23797526	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:23797526G>A	ENST00000264867.2	-	13	2435	c.2316C>T	c.(2314-2316)gaC>gaT	p.D772D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	772					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAAGCAGGGTCAAAGTCAT	0.403000													38	71					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350957	101350957	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101350957C>T	ENST00000534062.1	-	1	227	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	57										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTGGGGGGCTCCTTCTTTTCC	0.632000													27	40					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406340	17406340	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:17406340C>T	ENST00000470360.1	+	6	923	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SLC7A2_ENST00000494857.1_Missense_Mutation_p.S229L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S269L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S269L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S229L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	229					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAAAATATATCAGCAAGTGCC	0.328000													12	96					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13071798	13071798	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:13071798G>A	ENST00000399002.2	+	5	949	c.675G>A	c.(673-675)atG>atA	p.M225I	SPTLC3_ENST00000378194.4_Missense_Mutation_p.M225I	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	225					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.M225I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGCAGCTATGGTCTTTGGGA	0.423000													47	111					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92191496	92191496	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:92191496G>A	ENST00000256343.3	-	3	252	c.96C>T	c.(94-96)cgC>cgT	p.R32R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	32					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACATGCAAAGCGTTTCTCTG	0.299000													17	34					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586432	37586432	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:37586432T>G	ENST00000399151.3	+	8	1043	c.958T>G	c.(958-960)Tat>Gat	p.Y320D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	320					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCAAATTCTTATGAAGACCA	0.393000													16	155					0	0	1	0	0
RTCA	8634	broad.mit.edu	37	1	100741244	100741244	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:100741244T>A	ENST00000370128.4	+	7	874	c.705T>A	c.(703-705)ccT>ccA	p.P235P	RTCA_ENST00000260563.4_Silent_p.P248P	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	235					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										TTCAAGAACCTAAAGACCAAG	0.363000													45	87					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52384783	52384783	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52384783C>T	ENST00000356297.4	-	8	876	c.776G>A	c.(775-777)gGa>gAa	p.G259E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	259	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTGGGGTTTCCTTCCGCCCG	0.443000													6	135					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368871	27368871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27368871G>A	ENST00000244576.4	+	3	1267	c.722G>A	c.(721-723)cGa>cAa	p.R241Q		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CAGCATCAACGAATACACACT	0.433000													32	63					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	824434	824434	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:824434G>A	ENST00000293892.3	-	8	1806	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	MSLNL_ENST00000442466.1_Silent_p.L252L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	252					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGCGCCCACAGGTGAGGGCTG	0.711000													12	8					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90537765	90537765	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:90537765G>A	ENST00000404459.1	+	9	963		c.e9-1			NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N						lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CTCTCCCACAGAGTCATCCCC	0.483000													14	41					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241920715	241920715	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:241920715C>T	ENST00000366552.2	+	14	2078	c.1871C>T	c.(1870-1872)cCa>cTa	p.P624L	WDR64_ENST00000437684.2_Missense_Mutation_p.P624L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	624										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATTCCTTTCCCAGATGTCGAG	0.403000													38	97					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315896	50315896	+	Missense_Mutation	SNP	G	G	A	rs139444035	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50315896G>A	ENST00000332853.3	-	2	223	c.200C>T	c.(199-201)tCc>tTc	p.S67F	VSTM4_ENST00000298454.3_Missense_Mutation_p.S67F	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	67	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGAGTCGAAGGAGTGTGCAAA	0.602000													17	68					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428934	43428934	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43428934G>A	ENST00000406070.2	-	0	1382					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				catgggagaagatggaattgg	0.408000													14	66					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818772	26818772	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26818772G>A	ENST00000444914.3	+	6	1347	c.927G>A	c.(925-927)gtG>gtA	p.V309V	SLC13A2_ENST00000545060.1_Silent_p.V217V|SLC13A2_ENST00000314669.5_Silent_p.V260V|SLC13A2_ENST00000537681.1_Silent_p.V189V	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	260						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACGGCAACGTGGTGAACTTCG	0.587000													40	78					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373156	86373156	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:86373156G>A	ENST00000604798.1	-	8	2552	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCAAATGGAATTTTTTGA	0.318000													6	55					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206848	160206848	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160206848C>T	ENST00000392783.2	-	28	4729	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1376K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1378K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1312K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTCTCTTTCTTTTGCAATT	0.318000													5	20					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155163820	155163820	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155163820G>A	ENST00000357232.3	-	22	5680	c.5681C>T	c.(5680-5682)cCc>cTc	p.P1894L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1894	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCTTCAGAGGGGAGAAAAGC	0.393000													38	91					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746625	158746625	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158746625G>A	ENST00000339258.1	-	1	800	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CAAGGGTCAGGGAATAGCTCT	0.428000													28	111					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658717	55658717	+	Missense_Mutation	SNP	G	G	A	rs138042923	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55658717G>A	ENST00000449290.2	+	7	1060	c.968G>A	c.(967-969)gGa>gAa	p.G323E	TRIM51_ENST00000244891.3_Missense_Mutation_p.G180E	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	323	B30.2/SPRY.					intracellular	zinc ion binding	p.G323A(1)|p.G164A(1)									GATATCACTGGAAAATCTGAA	0.443000													62	130					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6902626	6902626	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6902626G>A	ENST00000251535.6	+	6	701	c.646_splice	c.e6-1	p.E216_splice	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	216	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCACCAAAGAGAAGGTTCGCC	0.532000													25	44					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87684072	87684072	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:87684072C>T	ENST00000436978.1	+	24	4226	c.3746C>T	c.(3745-3747)tCc>tTc	p.S1249F	PTPN13_ENST00000511467.1_Missense_Mutation_p.S1249F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1058F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1230F|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1249F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1249						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTCAAGATTCCAGGACTGAG	0.552000													30	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452849	179452849	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179452849C>T	ENST00000589042.1	-	305	63509	c.63285G>A	c.(63283-63285)ccG>ccA	p.P21095P	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.P12155P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P19454P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P18527P|TTN_ENST00000460472.2_Silent_p.P12030P|TTN_ENST00000342175.6_Silent_p.P12222P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19454	Fibronectin type-III 52.						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)			ATCCAATGATCGGTGCACCAC	0.478000													18	40					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612532	48612532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48612532C>T	ENST00000328333.8	-	75	6351	c.6244G>A	c.(6244-6246)Gga>Aga	p.G2082R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2050R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2082	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGGGTTCCAGGGAGTCCA	0.647000													25	94					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14522340	14522340	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14522340G>A	ENST00000242776.4	-	4	508	c.407C>T	c.(406-408)tCc>tTc	p.S136F	DDX39A_ENST00000454233.2_Missense_Mutation_p.S136F|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	136	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CATGTACTTGGAAAAGCGCTC	0.587000													36	64					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324635	152324635	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152324635C>T	ENST00000388718.5	-	3	5699	c.5627G>A	c.(5626-5628)aGg>aAg	p.R1876K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1876							calcium ion binding|structural molecule activity	p.R1876M(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCTCCTTCTTCCAGT	0.507000													27	458					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699048	68699048	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:68699048C>T	ENST00000283916.6	-	7	664	c.566G>A	c.(565-567)gGa>gAa	p.G189E	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G72E	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	189	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTCAGTGCCTCCAAGGATTCT	0.507000													9	243					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247122	37247122	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37247122G>A	ENST00000373491.3	+	3	302	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	52						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TTCCTCTGAAGAATAAGAAGG	0.438000													58	179					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133191275	133191275	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133191275G>A	ENST00000302334.2	+	6	1199	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	370	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCGGCCGGCTGGAGGCGGAGC	0.637000													20	58					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094890	139094890	+	Missense_Mutation	SNP	C	C	T	rs143573686		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:139094890C>T	ENST00000332797.6	+	1	234	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	27										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGGCTGTACCTCTTACGTCA	0.632000													98	186					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137980	31137980	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31137980A>C	ENST00000538351.1	-	7	1961	c.1207T>G	c.(1207-1209)Tct>Gct	p.S403A	ZNF438_ENST00000452305.1_Missense_Mutation_p.S442A|ZNF438_ENST00000444692.2_Missense_Mutation_p.S442A|ZNF438_ENST00000375311.1_Missense_Mutation_p.S16A|ZNF438_ENST00000361310.3_Missense_Mutation_p.S452A|ZNF438_ENST00000436087.2_Missense_Mutation_p.S452A|ZNF438_ENST00000442986.1_Missense_Mutation_p.S452A|ZNF438_ENST00000413025.1_Missense_Mutation_p.S452A|ZNF438_ENST00000331737.6_Missense_Mutation_p.S442A	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTAGTTGGAGAAGCCAGGGAG	0.458000													6	101					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960654	116960654	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:116960654C>T	ENST00000265441.3	-	2	576	c.277G>A	c.(277-279)Gat>Aat	p.D93N	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	93					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGGCTGTGATCCCTGTCCAGG	0.582000													22	40					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569724	248569724	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248569724C>T	ENST00000366474.1	+	1	429	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GGACCATTTCCTTTGTGGGGT	0.473000													151	96					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949548	41949548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:41949548G>A	ENST00000298919.7	+	7	959	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.D451N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D193N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	451							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGAGAAGGGGATCGGATTTT	0.408000													49	84					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190589	48190589	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:48190589G>A	ENST00000400384.2	+	2	1297	c.261G>A	c.(259-261)aaG>aaA	p.K87K	MAPK4_ENST00000588540.1_Silent_p.K87K|MAPK4_ENST00000592595.1_Silent_p.K87K|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	87	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGGTCCCAAGGGCACTGACC	0.612000													22	60					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205419	70205419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:70205419G>A	ENST00000269503.4	-	5	1440	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	223	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTTATAGAGGAAACACCAAG	0.507000													48	87					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065577	55065577	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55065577C>T	ENST00000526016.1	-	0	131					NR_038174.2																						CATGTTGTCTCCTTGCATTTA	0.493000													22	31					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231248236	231248236	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231248236G>A	ENST00000243810.6	+	8	649	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SP140L_ENST00000415673.2_Missense_Mutation_p.G217R|SP140L_ENST00000396563.4_Missense_Mutation_p.G217R|SP140L_ENST00000444636.1_Missense_Mutation_p.G217R			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	217						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAAAGAAGGGGCATGGCTG	0.338000													6	25					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:18688140C>T	ENST00000406451.3	+	11	1442	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	HDAC9_ENST00000405010.3_Missense_Mutation_p.S431L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S390L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S434L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S403L|HDAC9_ENST00000432645.2_Missense_Mutation_p.S431L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S387L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S429L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S354L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S418L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	431					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	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|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)	GAGAGAATTTCACCTGGCATT	0.473000													39	78					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8494753	8494753	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:8494753C>T	ENST00000447869.1	-	2	1214	c.296G>A	c.(295-297)gGa>gAa	p.G99E	STK33_ENST00000534493.1_Missense_Mutation_p.G58E|STK33_ENST00000315204.1_Missense_Mutation_p.G99E|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.G99E|STK33_ENST00000396673.1_Missense_Mutation_p.G99E			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	99						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGGAACTTTTCCTTCTGTAAA	0.383000													43	83					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395581	31395581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31395581C>T	ENST00000328111.2	+	23	2755	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S	DNMT3B_ENST00000456297.2_Missense_Mutation_p.P653S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P804S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P687S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P729S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P792S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S752F	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	812					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTGGCTTTCCTGTGCACTA	0.592000													19	245					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092825	27092825	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27092825C>T	ENST00000324856.7	+	9	3217	c.2846C>T	c.(2845-2847)tCc>tTc	p.S949F	ARID1A_ENST00000457599.2_Missense_Mutation_p.S949F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S566F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	949					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCATATTCCATGGGTGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	170					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26357637	26357637	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26357637G>A	ENST00000374280.3	+	5	1983	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	372					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGGACCGGATTTTTGGAA	0.587000													10	162					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063511	58063511	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58063511C>A	ENST00000339762.6	-	1	104	c.105G>T	c.(103-105)tgG>tgT	p.W35C	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCCTGGCTTCCATACCTCCT	0.438000													4	56					2.56e-06	2.5696e-06	1	1	0
CCDC15	80071	broad.mit.edu	37	11	124908375	124908375	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124908375C>T	ENST00000529051.1	+	14	2719	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Silent_p.I820I			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	820						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGCAGAGGATCCTAAGAATGA	0.313000													3	6					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894089	23894089	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23894089G>A	ENST00000355349.3	-	22	2730	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	856					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGAGGCGTGTGAACTCCTCCT	0.557000													54	96					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331145	40331145	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40331145G>A	ENST00000221801.3	-	3	305	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	64	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CACCAGAATGGAAGCCTCCAC	0.572000													33	273					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633595	70633595	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70633595G>A	ENST00000381269.2	-	2	2298	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	SLC8A3_ENST00000357887.3_Silent_p.S515S|SLC8A3_ENST00000356921.2_Silent_p.S515S|SLC8A3_ENST00000528359.1_Silent_p.S515S|SLC8A3_ENST00000534137.1_Silent_p.S515S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	515					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCACACAAGGGGAGGCTAGGA	0.498000													33	65					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794574	141794574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141794574C>T	ENST00000475668.2	+	63	7423	c.7369C>T	c.(7369-7371)Caa>Taa	p.Q2457*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.Q1561*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1561					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGTTCTTTCAAGATGCTGA	0.483000													22	112					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88477793	88477793	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:88477793C>T	ENST00000429277.2	+	11	1909	c.1764C>T	c.(1762-1764)tcC>tcT	p.S588S	LDB3_ENST00000458213.2_Silent_p.S473S|LDB3_ENST00000263066.6_Silent_p.S473S|LDB3_ENST00000361373.4_Silent_p.S583S|LDB3_ENST00000352360.5_Silent_p.S326S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	583	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCAAGACTTCCCTGGCAGATG	0.527000													6	141					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55078376	55078376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55078376C>T	ENST00000302250.2	-	5	743	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.A195T	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	195						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGACCAGGGCCAGGAACCTG	0.572000													29	53					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46287538	46287538	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46287538G>A	ENST00000270223.6	-	5	2033	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	AC011530.4_ENST00000593999.1_Intron|DMWD_ENST00000377735.3_Missense_Mutation_p.S638F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	663					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCTGGTTGGGAGGAGATGCC	0.642000													36	63					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420465	203420465	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:203420465T>C	ENST00000374580.4	+	12	2616	c.2077T>C	c.(2077-2079)Ttc>Ctc	p.F693L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	693					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCTTAAACAGTTCAGTGGCCC	0.448000													7	116					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290666	15290666	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:15290666G>A	ENST00000378116.4	-	5	732	c.726C>T	c.(724-726)gtC>gtT	p.V242V	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	242						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCACGCCGCGACATAGGCAT	0.552000													48	106					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472271	71472271	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71472271G>A	ENST00000322937.6	+	13	1271	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	AMBN_ENST00000449493.2_Missense_Mutation_p.E375K	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	390					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GATGACCCCTGAATTAGCTGA	0.547000													28	48					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85066366	85066366	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:85066366G>A	ENST00000335459.5	-	3	956	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	TRABD2A_ENST00000409520.2_Silent_p.L300L|TRABD2A_ENST00000409133.1_Silent_p.L300L	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TTGTAGATCAGCTCCCGGCGT	0.498000													34	53					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069131	205069131	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:205069131G>A	ENST00000264515.6	-	8	955	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	RBBP5_ENST00000367164.1_Missense_Mutation_p.R272W	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	272					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	p.R272W(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCATGCTGCCGGGCAGAACCT	0.517000													105	96					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326130	63326130	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63326130C>T	ENST00000255695.1	-	3	179	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	41					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAGCAATTTCACCTGTGCAA	0.592000													61	100					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585577	32585577	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32585577C>T	ENST00000341377.5	+	6	1130	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	NRG1_ENST00000521670.1_Missense_Mutation_p.P205S|NRG1_ENST00000338921.4_Missense_Mutation_p.P205S|NRG1_ENST00000520502.2_Missense_Mutation_p.P260S|NRG1_ENST00000519301.1_Missense_Mutation_p.P150S|NRG1_ENST00000539990.1_Missense_Mutation_p.P51S|NRG1_ENST00000523079.1_Missense_Mutation_p.P205S|NRG1_ENST00000356819.4_Missense_Mutation_p.P205S|NRG1_ENST00000287842.3_Missense_Mutation_p.P205S|NRG1_ENST00000287845.5_Missense_Mutation_p.P171S|NRG1_ENST00000405005.2_Missense_Mutation_p.P205S|NRG1_ENST00000520407.1_Missense_Mutation_p.P386S|NRG1_ENST00000287840.5_Missense_Mutation_p.P205S			Q02297	NRG1_HUMAN	neuregulin 1	205	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTTCAAACCCCTCGAGATA	0.423000													39	81					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59996779	59996779	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:59996779G>A	ENST00000444766.3	-	5	730	c.655C>T	c.(655-657)Cct>Tct	p.P219S	INTS2_ENST00000251334.6_Missense_Mutation_p.P211S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	219					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAACTATCAGGAACATTGGCC	0.388000													4	9					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251825	47251825	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47251825C>T	ENST00000296861.2	-	3	1485	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	364					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACCACAATCACCACAAGCA	0.512000													65	211					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65365005	65365005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:65365005C>T	ENST00000330909.8	-	18	3009	c.3010G>A	c.(3010-3012)Ggg>Agg	p.G1004R	MAGI1_ENST00000483466.1_Missense_Mutation_p.G1004R|MAGI1_ENST00000497477.2_Missense_Mutation_p.G976R|MAGI1_ENST00000402939.2_Missense_Mutation_p.G976R	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1004	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCGTTCTCCCCGCGCCGGATC	0.677000													7	29					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461019	12461019	+	Silent	SNP	G	G	C	rs138796747	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12461019G>C	ENST00000242804.4	-	6	1962	c.1380C>G	c.(1378-1380)ccC>ccG	p.P460P	ZNF442_ENST00000438182.1_Silent_p.P391P	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TACATTTATAGGGTTTCTCTC	0.378000													11	128					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156746817	156746817	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:156746817C>G	ENST00000275820.3	+	3	1148	c.1133C>G	c.(1132-1134)gCt>gGt	p.A378G	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	378	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCCAACATGGCTTCCATCAGT	0.458000													22	110					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39453451	39453451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:39453451G>A	ENST00000301821.6	+	6	801	c.692G>A	c.(691-693)tGg>tAg	p.W231*	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Nonsense_Mutation_p.W236*	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	231					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CAGGGTGAATGGACTGCTCCC	0.493000													4	144					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613553	179613553	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179613553G>A	ENST00000360870.5	-	46	13796	c.13574C>T	c.(13573-13575)tCa>tTa	p.S4525L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	655	Ig-like 25.			K -> R (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4525L(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)			AATGTTAGATGAATCTGATTC	0.323000													36	89					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40034123	40034123	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:40034123G>A	ENST00000373233.3	-	37	7435	c.7258C>T	c.(7258-7260)Ctt>Ttt	p.L2420F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2420					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTTCTGGAAGAAACCCCTGG	0.567000													11	46					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113133598	113133598	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113133598C>T	ENST00000533760.1	+	17	2377	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	721	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|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)		GCATCCTACACCTTTGTCTCA	0.418000													12	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239395	126239395	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126239395G>A	ENST00000394329.3	+	1	1842	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAACTGACGGGGACCTGGGT	0.537000													43	72					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25034155	25034155	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25034155G>A	ENST00000381989.3	-	18	2358	c.2253C>T	c.(2251-2253)acC>acT	p.T751T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	751					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGGTGCTACGGTGGCGGGCA	0.468000													13	34					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868807	100868807	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:100868807G>A	ENST00000369208.3	-	10	1808	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	SIM1_ENST00000262901.4_Silent_p.L342L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	342	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATCCAGGGAGAGCTGCAGCC	0.527000													14	21					0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75756960	75756960	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:75756960G>A	ENST00000312442.2	+	4	646	c.600G>A	c.(598-600)aaG>aaA	p.K200K	GLIPR1L1_ENST00000378695.4_Silent_p.K200K|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	200						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AATGTGTAAAGAACCTCTGCA	0.289000													11	24					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6212561	6212561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6212561C>T	ENST00000262450.3	-	6	880	c.781G>A	c.(781-783)Gat>Aat	p.D261N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	261	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTCTTCCCATCTTTGGAGCCT	0.542000													26	59					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514227	125514227	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:125514227G>A	ENST00000241305.3	-	13	2123	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	657					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATGGCGTTTGGGATTCCTTTT	0.458000													53	149					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877183	27877183	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27877183G>A	ENST00000374011.2	-	6	2412	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	AHDC1_ENST00000247087.5_Missense_Mutation_p.P482S|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	482							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGCGATACGGGGATCTTGGCC	0.632000													16	28					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844804	94844804	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94844804C>T	ENST00000448921.1	-	7	1811	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V	SERPINA1_ENST00000440909.1_Silent_p.V413V|SERPINA1_ENST00000449399.3_Silent_p.V413V|SERPINA1_ENST00000404814.4_Silent_p.V413V|SERPINA1_ENST00000393087.4_Silent_p.V413V|SERPINA1_ENST00000437397.1_Silent_p.V413V|SERPINA1_ENST00000393088.4_Silent_p.V413V|SERPINA1_ENST00000355814.4_Silent_p.V413V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	413					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGGTGGGATTCACCACTTTTC	0.507000													5	87					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139124	90139124	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90139124C>T	ENST00000492446.1	+	0	47																											AGGGTCCTCGCTCAGCTCCTG	0.532000													26	271					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160292	41160292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41160292C>T	ENST00000263413.3	-	11	1900	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S	C6_ENST00000337836.5_Missense_Mutation_p.G546S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCATAGGTGCCACTCTGACAC	0.468000													63	185					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70712215	70712215	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70712215C>T	ENST00000338779.6	-	8	838	c.564G>A	c.(562-564)cgG>cgA	p.R188R		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	188	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGATCAGCGCCCGGCGCACGG	0.662000													49	42					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72343377	72343377	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72343377G>A	ENST00000333850.3	+	5	691	c.550G>A	c.(550-552)Gac>Aac	p.D184N	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	184					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGGATTTAAGGACAATGTCTA	0.353000													29	61					0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573390	143573390	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143573390G>A	ENST00000479870.1	-	2	520	c.312C>T	c.(310-312)atC>atT	p.I104I	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.I104I	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	104										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGCCCTCGAGGATTTTGGCCA	0.547000													34	109					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10011406	10011406	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10011406G>A	ENST00000245046.2	-	7	1112	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		AGTATACCTTGAAAGCTTTGT	0.468000													39	68					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129636777	129636777	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:129636777C>T	ENST00000421865.2	+	25	3761	c.3712C>T	c.(3712-3714)Cca>Tca	p.P1238S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P1238S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGGAAACTTCCAGAACAATT	0.378000													6	87					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645489	38645489	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38645489C>T	ENST00000413689.1	-	12	1797	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	SCN5A_ENST00000443581.1_Missense_Mutation_p.R535Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R535Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R535Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	535					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)	ACCCAGGTCTCGCCTGCGAAA	0.582000													6	24					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080228	30080228	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30080228C>T	ENST00000376734.3	-	2	480	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	TRIM31_ENST00000540829.1_Missense_Mutation_p.E119K|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	119						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCCTTGGATTCACGACACACA	0.493000													45	92					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502463	16502463	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:16502463G>A	ENST00000396652.1	-	5	1115	c.403C>T	c.(403-405)Cct>Tct	p.P135S	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.P111S			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	111	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATCCAGTTAGGGAGCACTGGC	0.562000													38	77					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767921	57767921	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57767921C>T	ENST00000371030.2	+	1	1847	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	616						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGATGTTCTCCCAGGAGAAG	0.592000													49	104					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32626954	32626954	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32626954C>T	ENST00000266086.4	-	10	1141		c.e10+1		RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATTTTCCTACCTTGGGGCAT	0.532000													12	43					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156742004	156742004	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156742004G>A	ENST00000347377.6	+	13	1689	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	CYFIP2_ENST00000521420.1_Missense_Mutation_p.D394N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D345N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D420N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D224N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D420N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D94N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	420					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATCCCACAGACAAGTTCTG	0.493000													5	8					0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44592263	44592263	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44592263C>T	ENST00000291554.2	+	3	487	c.395C>T	c.(394-396)tCc>tTc	p.S132F	CRYAA_ENST00000398132.1_Missense_Mutation_p.S95F|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Missense_Mutation_p.S112F	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	132					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTCTCTTGCTCCCTGTCTGCC	0.672000													34	95					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011847	176011847	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176011847G>A	ENST00000510636.1	+	19	2839	c.2565G>A	c.(2563-2565)ggG>ggA	p.G855G	CDHR2_ENST00000261944.5_Silent_p.G855G|CDHR2_ENST00000506348.1_Silent_p.G855G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	855	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCAAGGCCGGGGTCGATGTGG	0.607000													42	62					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330663	33330663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33330663G>A	ENST00000374796.2	-	12	5967	c.3397C>T	c.(3397-3399)Cct>Tct	p.P1133S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1133S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1133	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTTGCTTCAGGGAGTGAGGCC	0.532000													45	89					0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62592521	62592521	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62592521G>A	ENST00000294179.3	-	8	819	c.666C>T	c.(664-666)gcC>gcT	p.A222A	STX5_ENST00000394690.1_Silent_p.A168A|STX5_ENST00000377897.4_Silent_p.A222A|STX5_ENST00000541317.1_Silent_p.A126A	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	222					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGTGGTTAGGGGCAAGGGGCA	0.572000													4	65					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882279	7882279	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7882279G>A	ENST00000542353.1	-	7	1045	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CLEC4C_ENST00000540085.1_Silent_p.F154F|CLEC4C_ENST00000360345.3_Silent_p.F185F|CLEC4C_ENST00000354629.5_Silent_p.F154F	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	185	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTGAAGAACGGAAATTTATTA	0.393000													42	113					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:119943007C>T	ENST00000327554.2	+	7	1247	c.782C>T	c.(781-783)tCg>tTg	p.S261L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	261										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567000													96	170					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325723	179325723	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179325723G>A	ENST00000409117.3	+	7	1137	c.781G>A	c.(781-783)Gat>Aat	p.D261N	DFNB59_ENST00000375129.4_Missense_Mutation_p.D261N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	261					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAGAGTGATGGATGTCATTTC	0.333000													55	134					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317571	30317571	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30317571G>A	ENST00000375377.1	-	3	1607	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	502										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGGGGGGCTGGCCCCACAGCC	0.647000													65	160					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9085217	9085217	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9085217C>T	ENST00000433083.2	+	7	1174	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	PHC1_ENST00000536844.1_Silent_p.L167L|PHC1_ENST00000544916.1_Silent_p.L388L|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Silent_p.L388L			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	388					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGATCCACCTCCAGCAGAAAC	0.527000													21	92					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117241596	117241596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117241596G>A	ENST00000332958.2	+	12	1322	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	436					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CACAGACACTGAATCTGGTAT	0.413000													72	96					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031191	79031191	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79031191C>T	ENST00000446378.2	+	2	6634	c.6603C>T	c.(6601-6603)gaC>gaT	p.D2201D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2201						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAAGAAGACTTAGAAACAC	0.408000													73	108					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47350724	47350724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:47350724C>T	ENST00000400314.1	+	13	1159	c.821C>T	c.(820-822)tCc>tTc	p.S274F	PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.S248F|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.S274F|PCBP3_ENST00000400304.1_Missense_Mutation_p.S264F|PCBP3_ENST00000400309.1_Missense_Mutation_p.S273F			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	274					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		ttacactcctccgaagaagct	0.517000													24	47					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650403	55650403	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:55650403C>T	ENST00000339140.3	+	1	571	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	87					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCCAATATCCTGTGCCCCCT	0.552000													33	15					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101443	168101443	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168101443G>A	ENST00000409195.1	+	9	3630	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E1181K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E959K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1006					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAAGGAGAAGAAGTGAAGGA	0.378000													4	98					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572993	56572993	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56572993G>A	ENST00000323456.5	-	16	2634	c.2510C>T	c.(2509-2511)cCc>cTc	p.P837L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P780L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	837						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACCCTGAGGGATCTTGGTT	0.517000													31	104					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8089946	8089946	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:8089946G>A	ENST00000296372.8	-	4	546	c.404C>T	c.(403-405)tCc>tTc	p.S135F	ABLIM2_ENST00000361737.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S135F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S135F|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S135F			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	135	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TACGGGCAGGGAACACTTCTG	0.642000													11	25					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153915521	153915521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153915521G>A	ENST00000361217.4	-	3	821	c.403C>T	c.(403-405)Cct>Tct	p.P135S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	135	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCTGGAGGGGCCAGGTTT	0.647000													43	52					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906183	43906183	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43906183C>T	ENST00000562955.1	+	51	7099	c.7099C>T	c.(7099-7101)Ccc>Tcc	p.P2367S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1525S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2424						peroxisome		p.P1525S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TAGCACCTTTCCCCCTGCCCC	0.567000													8	174					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529725	5529725	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5529725G>A	ENST00000311659.4	-	2	1211	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	355										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTCCTAGGGACTGGGGGTT	0.493000													50	48					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131964130G>A	ENST00000286355.5	-	3	3317	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					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	p.R409G(2)		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)			TTCTCATAGCGATGGATGTAG	0.517000										HNSCC(32;0.087)			24	49					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805815	70805815	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:70805815C>T	ENST00000358731.4	+	17	3159	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	966	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGAGAGTTCCCCAAGGGAGAA	0.448000													43	104					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97770838	97770838	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:97770838C>T	ENST00000370192.3	-	18	2376	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	759					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATATGTAGTTCGCTTTGCAAT	0.478000													28	70					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196788394	196788394	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196788394G>A	ENST00000312428.6	-	23	3850	c.3750C>T	c.(3748-3750)ctC>ctT	p.L1250L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1250	Stem (By similarity).				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						CAAGTGATGAGAGGACATCTC	0.408000													32	57					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048474	148048474	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:148048474T>A	ENST00000370460.2	+	14	3547	c.3068T>A	c.(3067-3069)aTt>aAt	p.I1023N	AFF2_ENST00000370457.5_Missense_Mutation_p.I988N|AFF2_ENST00000342251.3_Missense_Mutation_p.I990N|AFF2_ENST00000286437.5_Missense_Mutation_p.I664N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1023					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					accactaccatttccaccatc	0.562000													136	38					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398601	10398601	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10398601C>T	ENST00000226207.5	-	36	5297	c.5203G>A	c.(5203-5205)Gag>Aag	p.E1735K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1735						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGTCTGTCTCCAGCTTCTTC	0.428000													68	106					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135286995	135286995	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135286995G>A	ENST00000274507.1	-	3	406	c.206C>T	c.(205-207)cCa>cTa	p.P69L	LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Missense_Mutation_p.P69L|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.P69L	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	69					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGTGAATGGTGCGTACAC	0.458000													27	55					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879590	39879590	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39879590A>T	ENST00000221265.3	-	8	963	c.633T>A	c.(631-633)ttT>ttA	p.F211L	PAF1_ENST00000595564.1_Missense_Mutation_p.F201L|PAF1_ENST00000221266.7_Intron	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	211					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCCTGACCTTAAAGTCTGGGA	0.527000													81	105					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770383	119770383	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:119770383C>T	ENST00000313400.4	-	7	1679	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	ASTN2_ENST00000361209.2_Missense_Mutation_p.D476N|ASTN2_ENST00000373996.3_Missense_Mutation_p.D527N|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	527	EGF-like 1.					integral to membrane		p.D476N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTTTCTGGGTCGCAGAGCTGC	0.577000													27	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588293	179588293	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179588293C>T	ENST00000589042.1	-	74	21758	c.21534G>A	c.(21532-21534)gtG>gtA	p.V7178V	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6861V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V5934V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6861	Ig-like 53.						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)			GGTCTCCTTTCACTAGTTCTC	0.423000													14	37					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266172	43266172	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43266172C>T	ENST00000372585.5	+	1	171	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	SLC22A7_ENST00000372574.3_Silent_p.L26L|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Silent_p.L26L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	26						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACTGCTGGCCCTGCCCCGAGT	0.647000													44	107					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234752853	234752853	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234752853G>A	ENST00000411486.2	-	7	637	c.572C>T	c.(571-573)cCc>cTc	p.P191L	HJURP_ENST00000432087.1_Missense_Mutation_p.P137L|HJURP_ENST00000441687.1_Missense_Mutation_p.P106L|HJURP_ENST00000434039.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	191					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACACTCACCGGGGGCAGGCAC	0.557000													44	108					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42654519	42654519	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:42654519G>A	ENST00000372572.1	-	13	1845	c.1534C>T	c.(1534-1536)Ctt>Ttt	p.L512F	FOXJ3_ENST00000372573.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000361346.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000361776.1_Missense_Mutation_p.L478F|FOXJ3_ENST00000545068.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000372571.1_Missense_Mutation_p.L26F	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	512					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACTGATTAAGAGAAGAACAA	0.398000													25	54					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201058395	201058395	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201058395G>A	ENST00000362061.3	-	6	1117	c.891C>T	c.(889-891)gtC>gtT	p.V297V	CACNA1S_ENST00000367338.3_Silent_p.V297V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	297					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)	CCCAGTAAAGGACGTCAGTCC	0.607000													35	82					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762535	53762535	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53762535C>T	ENST00000341702.3	+	1	991	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	303					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TAGGAACAATCTCTACCCCAA	0.493000													57	100					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37398590	37398590	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37398590G>A	ENST00000535679.1	-	6	767	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SULT6B1_ENST00000379149.2_Silent_p.F152F|SULT6B1_ENST00000407963.1_Silent_p.F218F|SULT6B1_ENST00000260637.3_Silent_p.F218F			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	256						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGCGGAAAAGGAATGGGCCGA	0.463000													57	123					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66902293	66902293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66902293C>T	ENST00000269080.2	-	17	2307	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D764N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D764N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	724						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTATCAAGATCCTTGTAAAGT	0.313000													28	138					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641895	121641895	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121641895C>T	ENST00000489711.1	+	10	1264	c.876C>T	c.(874-876)ctC>ctT	p.L292L	SLC15A2_ENST00000295605.2_Silent_p.L261L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	292					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGAAGCAGCTCATTATGGATG	0.423000													18	228					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831850	32831850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32831850C>T	ENST00000397452.1	-	9	875	c.765G>A	c.(763-765)ctG>ctA	p.L255L	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Silent_p.L69L|BPIFC_ENST00000300399.3_Silent_p.L255L			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	255						extracellular region	lipopolysaccharide binding|phospholipid binding										TGAGGTTTTCCAGTGGGTAGA	0.458000													33	59					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986911	166986911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166986911C>T	ENST00000061240.2	+	16	2731	c.2084C>T	c.(2083-2085)gCt>gTt	p.A695V	TLL1_ENST00000507499.1_Missense_Mutation_p.A718V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	695	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCTGTGGCGCTGAAGTGCCT	0.388000													34	79					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652082	121652082	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121652082G>A	ENST00000393386.2	+	12	3393	c.2982G>A	c.(2980-2982)ggG>ggA	p.G994G	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	994					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G994G(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGGTGATGGGGAATGGTCTG	0.448000													6	250					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76381981	76381981	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:76381981G>A	ENST00000357063.3	+	11	2978	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	LMO7_ENST00000465261.2_Missense_Mutation_p.R288Q|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R288Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R573Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	573						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTGTTCGCCGAATTCCAGCA	0.453000													53	62					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671250	7671250	+	Silent	SNP	C	C	T	rs147333435	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7671250C>T	ENST00000572933.1	+	23	5168	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I	DNAH2_ENST00000389173.2_Silent_p.I1236I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1236	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)				TCTGGGAGATCGCACGAGACT	0.612000													34	63					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100503146	100503146	+	Missense_Mutation	SNP	G	G	A	rs145545828	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100503146G>A	ENST00000457717.1	+	3	402	c.146G>A	c.(145-147)gGa>gAa	p.G49E	MTTP_ENST00000265517.5_Missense_Mutation_p.G49E|MTTP_ENST00000511045.1_Missense_Mutation_p.G76E|MTTP_ENST00000422897.2_Missense_Mutation_p.G49E	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	49	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.G49V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGGGGCAAAGGAAAACTGCAA	0.463000													55	84					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70935101	70935101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70935101C>T	ENST00000393567.2	-	53	9004	c.8854G>A	c.(8854-8856)Gaa>Aaa	p.E2952K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2952										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCCTGGATTCCTGTCTGCAG	0.438000													5	45					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252252	110252252	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:110252252G>A	ENST00000418703.2	-	1	444	c.350C>T	c.(349-351)tCc>tTc	p.S117F	TRPV4_ENST00000261740.2_Missense_Mutation_p.S117F|TRPV4_ENST00000346520.2_Missense_Mutation_p.S117F|TRPV4_ENST00000541794.1_Missense_Mutation_p.S117F|TRPV4_ENST00000537083.1_Missense_Mutation_p.S117F|TRPV4_ENST00000544971.1_Missense_Mutation_p.S117F|TRPV4_ENST00000536838.1_Missense_Mutation_p.S83F|TRPV4_ENST00000392719.2_Missense_Mutation_p.S117F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	117					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTTGTCACTGGAGTGGTGACG	0.517000													16	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438274	179438274	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179438274G>A	ENST00000589042.1	-	326	72809	c.72585C>T	c.(72583-72585)ttC>ttT	p.F24195F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.F15255F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F22554F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F21627F|TTN_ENST00000460472.2_Silent_p.F15130F|TTN_ENST00000342175.6_Silent_p.F15322F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22554	Ig-like 121.						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)			CCATGACACGGAATATGTATT	0.453000													109	238					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586527	33586527	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33586527G>A	ENST00000262873.7	+	33	4217	c.4125G>A	c.(4123-4125)aaG>aaA	p.K1375K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1333						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGCAGGCCAAGAGTGCCCTGG	0.682000													11	20					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402588	228402588	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228402588G>A	ENST00000570156.2	+	5	1691	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	OBSCN_ENST00000284548.11_Silent_p.G539G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G539G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	539	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCCATGGGGAACGCCCTG	0.602000													28	31					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354539	45354539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45354539G>A	ENST00000359271.2	+	2	1114	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	288						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGACCGCCATGGGGCTGGTGG	0.652000													64	133					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999864	112999864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:112999864C>T	ENST00000271277.6	+	6	1975	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	584						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCATCCCACCCAAGAAACC	0.567000													46	86					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52412782	52412782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52412782C>T	ENST00000420323.2	+	47	7624	c.7363C>T	c.(7363-7365)Ccg>Tcg	p.P2455S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2455					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)		CATGGCTGACCCGGCCAAGGT	0.627000													31	121					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616165	79616165	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79616165C>T	ENST00000296739.4	+	1	376	c.131C>T	c.(130-132)cCt>cTt	p.P44L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCACATTCCCCTTCCTCCTGG	0.423000													84	146					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79319928	79319928	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79319928G>A	ENST00000428286.1	-	8	7385	c.6185C>T	c.(6184-6186)tCt>tTt	p.S2062F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2421F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2421					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCATCCCAGAGATTCATCCTC	0.512000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	39					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540805	72540805	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72540805G>A	ENST00000330793.1	-	2	703	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	115	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CGGAGCCACGGTGTATCCACC	0.582000													33	112					0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99812067	99812067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:99812067C>T	ENST00000338148.3	+	6	583	c.385C>T	c.(385-387)Cca>Tca	p.P129S	C2orf15_ENST00000512183.2_Missense_Mutation_p.P129S|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	129					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACAAGGACTTCCAGCAGAGGA	0.473000													90	171					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462496	66462496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:66462496C>T	ENST00000404260.3	+	29	7806	c.7498C>T	c.(7498-7500)Ccc>Tcc	p.P2500S	MAST4_ENST00000403625.2_Missense_Mutation_p.P2497S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2318S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2308S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2303S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2500						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCTTCCAGCCCCCAGCAACAG	0.657000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632562	179632562	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179632562C>T	ENST00000589042.1	-	40	9619	c.9395G>A	c.(9394-9396)gGa>gAa	p.G3132E	TTN_ENST00000359218.5_Missense_Mutation_p.G3086E|TTN_ENST00000591111.1_Missense_Mutation_p.G3132E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3132E|TTN_ENST00000460472.2_Missense_Mutation_p.G3086E|TTN_ENST00000342175.6_Missense_Mutation_p.G3086E|TTN_ENST00000360870.5_Missense_Mutation_p.G3132E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2869	Ig-like 18.						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)			CACGTTGCCTCCTGCCACCAC	0.438000													55	91					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36223953	36223953	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:36223953C>T	ENST00000540320.1	+	51	8403	c.7869C>T	c.(7867-7869)ctC>ctT	p.L2623L	NBEA_ENST00000379922.3_Silent_p.L201L|NBEA_ENST00000310336.4_Silent_p.L2623L|NBEA_ENST00000537702.1_Silent_p.L416L|NBEA_ENST00000379939.2_Silent_p.L2620L|NBEA_ENST00000400445.3_Silent_p.L2623L			Q8NFP9	NBEA_HUMAN	neurobeachin	2623						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGCCGACTCTTTGCAGTGA	0.443000													34	65					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745973	5745973	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5745973C>T	ENST00000381624.3	+	9	768	c.707C>T	c.(706-708)tCt>tTt	p.S236F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	236						integral to membrane											TTCGGGCTGTCTTTTGACTAT	0.517000													117	254					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3611756	3611756	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3611756C>T	ENST00000301749.7	-	0	2367				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGCAGCTCCATCACGGGGT	0.652000													37	85					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474971	50474971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50474971C>T	ENST00000267842.5	+	1	579	c.347C>T	c.(346-348)gCc>gTc	p.A116V	SLC27A2_ENST00000380902.4_Missense_Mutation_p.A116V	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	116					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AACGAGCCGGCCTACGTGTGG	0.662000													86	144					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28926071	28926071	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28926071G>A	ENST00000358201.4	-	4	1053	c.465C>T	c.(463-465)atC>atT	p.I155I	RABEP2_ENST00000544477.1_Silent_p.I84I|RABEP2_ENST00000357573.6_Silent_p.I155I	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	155					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TGGGCAGTACGATCTCCCGCA	0.632000													83	144					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756775	56756775	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56756775C>T	ENST00000326855.2	+	1	429	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTGTAAGCCCCTTCACTATA	0.428000													44	93					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012884	29012884	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29012884C>T	ENST00000377175.1	-	1	133	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GGATCATCTCCATTTTTGGAT	0.403000													53	125					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512364	14512364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14512364C>T	ENST00000242786.5	+	10	1144	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	CD97_ENST00000357355.3_Missense_Mutation_p.P306L|CD97_ENST00000358600.3_Missense_Mutation_p.P262L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	355					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TACATTTCCCCTTCGAACACA	0.607000													7	89					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333366	70333366	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:70333366C>T	ENST00000338508.4	-	32	3034	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	SHANK2_ENST00000423696.2_Missense_Mutation_p.G632E|SHANK2_ENST00000409161.1_Missense_Mutation_p.G415E|SHANK2_ENST00000449833.2_Missense_Mutation_p.G416E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	632					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACCAGCATCCCCTTCCGCCT	0.617000													90	197					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836084	43836084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43836084C>T	ENST00000372781.3	+	2	203	c.146C>T	c.(145-147)tCt>tTt	p.S49F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S49F	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAGCACTATTCTGGACAAAAA	0.398000													69	124					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241992720	241992720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241992720G>A	ENST00000310397.8	+	16	2234	c.2234G>A	c.(2233-2235)tGg>tAg	p.W745*	SNED1_ENST00000342631.6_Nonsense_Mutation_p.W745*|SNED1_ENST00000401884.1_Nonsense_Mutation_p.W745*|SNED1_ENST00000405547.3_Nonsense_Mutation_p.W745*|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	745	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGTGTCTGGAGTGAGCCT	0.687000													42	77					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367169	248367169	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248367169C>T	ENST00000456743.1	+	1	838	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGATCGCTCCCCAACACAG	0.502000													132	182					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27716873	27716873	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27716873C>T	ENST00000264703.3	-	4	769	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	126	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTGGGGGACTCTCTCCCCGAA	0.607000													49	105					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55176600	55176600	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55176600C>T	ENST00000391736.1	+	8	1041	c.726C>T	c.(724-726)ccC>ccT	p.P242P	LILRB4_ENST00000391733.3_Silent_p.P242P|LILRB4_ENST00000430952.2_Silent_p.P242P|LILRB4_ENST00000391734.3_Silent_p.P242P|LILRB4_ENST00000270452.2_Silent_p.P242P	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	242						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGACCAGCCCCTCATGCCTA	0.642000													7	16					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33016078	33016078	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:33016078C>T	ENST00000242209.4	+	4	839	c.670C>T	c.(670-672)Cct>Tct	p.P224S	FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.P277S|FKBP9_ENST00000538443.1_Missense_Mutation_p.P86S	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	224	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATCACCATTCCTCCTTTTCT	0.473000													7	106					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	661768	661768	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:661768G>A	ENST00000255622.6	+	21	2519	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E826K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E547K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	826					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAGAAGGAGGAGGAGGAGAG	0.567000													26	101					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147563	129147563	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:129147563C>T	ENST00000540052.1	+	3	859	c.815C>T	c.(814-816)tCg>tTg	p.S272L	BCORL1_ENST00000218147.7_Missense_Mutation_p.S272L|BCORL1_ENST00000303743.5_Missense_Mutation_p.S272L|BCORL1_ENST00000359304.2_Missense_Mutation_p.S272L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	272	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATCTCTGACTCGAACCCCCTT	0.637000													77	41					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34242392	34242392	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:34242392G>A	ENST00000374114.3	-	3	1116	c.853C>T	c.(853-855)Cct>Tct	p.P285S	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P285S|RBM12_ENST00000374104.3_Missense_Mutation_p.P285S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	285	Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCTGGATAGGGTTAACAGGA	0.453000													43	91					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113192632	113192632	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113192632C>T	ENST00000401783.2	-	33	5788	c.5452G>A	c.(5452-5454)Gga>Aga	p.G1818R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1795R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1818	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGGTATCCTTCCTGACAC	0.398000													15	28					0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10555689	10555689	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:10555689G>A	ENST00000265981.2	-	2	159	c.17C>T	c.(16-18)tCg>tTg	p.S6L	RNF141_ENST00000528665.1_Missense_Mutation_p.S6L	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	6							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TGTCTGATCCGAAATTTGCTG	0.338000													52	48					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1905991	1905991	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:1905991C>T	ENST00000503128.1	+	3	853	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	WHSC1_ENST00000436793.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382895.3_Missense_Mutation_p.H216Y|WHSC1_ENST00000398261.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.H216Y|WHSC1_ENST00000514045.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382891.5_Missense_Mutation_p.H216Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.H216Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.H216Y			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	216					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACAAAGACCACCTGTTGAA	0.448000			T	IGH@	MM								39	90					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181019241	181019241	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:181019241C>T	ENST00000367580.5	+	3	428	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MR1_ENST00000434571.2_Silent_p.F141F|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Silent_p.F141F|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	141	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GGCAGGATTTCCTGATCTTCA	0.502000													25	115					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459700	142459700	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142459700G>A	ENST00000486171.1	+	4	335	c.318G>A	c.(316-318)aaG>aaA	p.K106K	PRSS1_ENST00000311737.7_Silent_p.K92K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	92	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATGCAGCCAAGATCATCCGCC	0.542000													120	341					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053357	157053357	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:157053357C>T	ENST00000265007.6	-	5	2594	c.2253G>A	c.(2251-2253)agG>agA	p.R751R	SOX30_ENST00000519442.1_Silent_p.R446R|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	751					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTATAAATCCCTGAGCACTT	0.368000													19	90					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48380878	48380878	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48380878C>T	ENST00000380518.3	-	21	1512	c.1348G>A	c.(1348-1350)Ggc>Agc	p.G450S	COL2A1_ENST00000337299.6_Missense_Mutation_p.G381S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	450	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCGGGCCCAGAGGACCA	0.612000													44	108					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024273	28024273	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:28024273G>A	ENST00000375790.5	-	4	811	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	MKX_ENST00000419761.1_Missense_Mutation_p.R127W			Q8IYA7	MKX_HUMAN	mohawk homeobox	127					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTCTTAAGCCGACGTCTTGCA	0.353000													38	101					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15374375	15374375	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:15374375G>A	ENST00000341776.2	+	2	317	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	25					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCGTGGTCAGAAGAACGGGT	0.428000													89	297					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161810	6161810	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6161810C>T	ENST00000261405.5	-	16	2339	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	695	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCTCTCATCCATGTAGAGCC	0.597000													14	98					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944750	55944750	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55944750C>T	ENST00000312298.1	+	1	657	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTCCTACATCTTCATTGCTT	0.483000													39	90					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383251	152383251	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152383251C>T	ENST00000271835.3	-	3	369	c.307G>A	c.(307-309)Gga>Aga	p.G103R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	103					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAGGCTTCCAGACTCTTGA	0.572000													245	285					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49950203	49950203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49950203C>T	ENST00000257981.6	+	13	2779	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	840					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCAAGTTCTCTTTCCGCGTG	0.612000													63	114					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511057	56511057	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56511057G>A	ENST00000302957.3	-	1	230	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GATTGCCAATGAAAAAGTACA	0.413000													39	59					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994903	140994903	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140994903G>A	ENST00000285879.4	+	4	1999	c.1713G>A	c.(1711-1713)ggG>ggA	p.G571G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	571							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)					CTCCTCAGGGGGAGGACTCCC	0.597000										HNSCC(15;0.026)			158	188					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400083	138400083	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:138400083C>T	ENST00000409968.1	+	21	4003	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I	THSD7B_ENST00000272643.3_Silent_p.I1278I|THSD7B_ENST00000413152.2_Silent_p.I1247I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		CTCGATTTATCATTATGCCAA	0.512000													46	80					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872860	39872860	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:39872860C>T	ENST00000502986.2	+	11	1244	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.I321I	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	321					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGGACTACATCCTGTCATCTG	0.507000													27	63					0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013735	99013735	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99013735G>A	ENST00000375263.3	-	5	465	c.418C>T	c.(418-420)Cca>Tca	p.P140S	HSD17B3_ENST00000375262.2_Missense_Mutation_p.P140S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	140					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AAATGGCTTGGGAGAAGGTTT	0.463000													5	87					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696169	10696169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:10696169G>A	ENST00000302079.6	-	43	6753	c.6754C>T	c.(6754-6756)Ctc>Ttc	p.L2252F	PIEZO2_ENST00000285141.4_Missense_Mutation_p.L107F|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L2277F|PIEZO2_ENST00000538948.1_Missense_Mutation_p.L209F|PIEZO2_ENST00000503781.3_Missense_Mutation_p.L2252F			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2252						integral to membrane	ion channel activity										GTCTTCCTGAGGTAGAGGGCT	0.507000													51	91					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90024356	90024356	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:90024356C>G	ENST00000428670.3	-	6	1310	c.854G>C	c.(853-855)gGa>gCa	p.G285A	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G285A|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G28A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G285A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G285A			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	285					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAAGATAATTCCAGTTTGAGA	0.323000													25	49					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243469	10243469	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10243469G>A	ENST00000418404.3	-	17	2217	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	MYH13_ENST00000252172.4_Missense_Mutation_p.P685L|MYH13_ENST00000570743.1_Missense_Mutation_p.P685L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	685	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACTCACCAGGAGTCTTGGT	0.438000													9	11					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872703	40872703	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40872703C>T	ENST00000409587.1	+	5	523	c.126C>T	c.(124-126)gtC>gtT	p.V42V	PLD3_ENST00000409281.1_Silent_p.V42V|PLD3_ENST00000356508.5_Silent_p.V42V|PLD3_ENST00000409419.1_Silent_p.V42V|PLD3_ENST00000409735.4_Silent_p.V42V			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	42					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCCTGCTGGTCCTCATTCTGG	0.647000													44	100					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108782021	108782021	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108782021C>T	ENST00000232603.5	-	10	955	c.873G>A	c.(871-873)aaG>aaA	p.K291K	MORC1_ENST00000483760.1_Silent_p.K291K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	291					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						CTTCTTCTGCCTTTTTAACTT	0.318000													4	135					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117303151	117303151	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:117303151G>A	ENST00000369478.3	+	3	618	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	170	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TTTCTCAGAGGGTCATCACAC	0.473000													7	101					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107664513	107664513	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107664513C>T	ENST00000388781.3	-	34	5340	c.5257G>A	c.(5257-5259)Gaa>Aaa	p.E1753K	LAMB4_ENST00000205386.4_Missense_Mutation_p.E1753K|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1753	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TATTTTTTTTCTTGTTCAACA	0.373000													15	58					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765165	49765165	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:49765165A>T	ENST00000492622.2	+	18	2264	c.1959A>T	c.(1957-1959)ttA>ttT	p.L653F	FNDC3A_ENST00000541916.1_Missense_Mutation_p.L653F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.L597F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	653	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTGAATCTTTACTTGTGCAGA	0.408000													8	112					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029726	76029726	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76029726C>T	ENST00000275560.3	-	4	699	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	118	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGATGGGGCCTCGGCCTTGG	0.677000													17	57					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068426	89068426	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89068426G>A	ENST00000286614.6	-	8	1584	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	435	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATGAGGGGGAATTCCACTT	0.423000													8	124					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202290	39202290	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39202290G>A	ENST00000351578.6	-	2	963	c.773C>T	c.(772-774)cCc>cTc	p.P258L	FYB_ENST00000505428.1_Missense_Mutation_p.P258L|FYB_ENST00000512982.1_Missense_Mutation_p.P258L|FYB_ENST00000515010.1_Missense_Mutation_p.P258L|FYB_ENST00000540520.1_Missense_Mutation_p.P268L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	258					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCCAGGAAAGGGCAAACTTGA	0.498000													72	448					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7244216	7244216	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7244216G>A	ENST00000542285.1	-	2	209	c.60C>T	c.(58-60)atC>atT	p.I20I				P00736	C1R_HUMAN	complement component 1, r subcomponent	21	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTTCTGAGGGATGGGAATGG	0.547000													4	9					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9543605C>T	ENST00000378429.3	-	7	2095	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_ENST00000353224.5_Missense_Mutation_p.D517N|PAK7_ENST00000378423.1_Missense_Mutation_p.D517N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	517	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGAGCTCATCGCCGACAAGG	0.478000													68	165					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110333	73110333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:73110333G>A	ENST00000264839.7	+	30	4543	c.4543G>A	c.(4543-4545)Gat>Aat	p.D1515N	RIMS1_ENST00000517960.1_Missense_Mutation_p.D1449N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1449N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1265N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D800N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D734N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.D986N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1455N|RIMS1_ENST00000538414.1_Missense_Mutation_p.D472N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D791N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1666N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1316N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1345N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D193N			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1666					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCACTGGTGGATCCCACACT	0.522000													65	34					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56032941	56032941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:56032941C>T	ENST00000244728.5	-	6	1578	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G394E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G394E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	394	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCTTCTTTTCCAGAATATTT	0.313000													3	9					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663439	102663439	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:102663439C>T	ENST00000315274.6	-	7	997	c.930G>A	c.(928-930)ccG>ccA	p.P310P	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	310	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTCAACTTCCGGGTAGAAGG	0.423000													44	57					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237392	26237392	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:26237392C>T	ENST00000519902.1	-	0	2556																											TTGGAAATTTCTTGCTGTTCT	0.473000													12	61					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16261037	16261037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:16261037G>A	ENST00000339732.5	+	7	2023	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	GALNT15_ENST00000437509.1_Missense_Mutation_p.G507E	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGTTTCTCTGGAAAGGCAAGG	0.527000													94	222					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152640006	152640006	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:152640006C>T	ENST00000367255.5	-	85	16982	c.16381G>A	c.(16381-16383)Gac>Aac	p.D5461N	SYNE1_ENST00000265368.4_Missense_Mutation_p.D5461N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5390N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5390N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5134N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTTTGGTCAGTTTTAGCT	0.353000										HNSCC(10;0.0054)			14	33					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642834	127642834	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:127642834C>T	ENST00000405109.1	+	2	1397	c.930C>T	c.(928-930)ttC>ttT	p.F310F	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.F310F			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	310										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAACCTATTTCATCTCATCTC	0.418000													38	76					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395316	115395316	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:115395316G>A	ENST00000393780.3	+	3	1063	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GAP43_ENST00000305124.6_Missense_Mutation_p.E163K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	163					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCCAGCCAAGGAGGAGCCTAA	0.602000													4	69					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760582	54760582	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54760582C>T	ENST00000450632.1	-	3	202	c.125G>A	c.(124-126)gGg>gAg	p.G42E	LILRB5_ENST00000345866.6_Missense_Mutation_p.G42E|LILRB5_ENST00000316219.5_Missense_Mutation_p.G42E|LILRB5_ENST00000449561.2_Missense_Mutation_p.G42E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	42	Ig-like C2-type 1.				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)		CACGGGCTTCCCCCGAGCTAT	0.617000													10	205					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438597	10438597	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10438597G>A	ENST00000245503.5	-	18	2444	c.2060C>T	c.(2059-2061)cCt>cTt	p.P687L	MYH2_ENST00000397183.2_Missense_Mutation_p.P687L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	687	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P687L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCTTACCAGGAGTTTTTGT	0.423000													18	39					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505198	37505198	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:37505198G>A	ENST00000374660.1	+	38	3247	c.3148G>A	c.(3148-3150)Gga>Aga	p.G1050R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G931R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G931R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1053						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAACGTACAGGAAAAATGGA	0.333000													28	69					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044336	163044336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:163044336C>T	ENST00000421743.2	+	6	1055	c.895C>T	c.(895-897)Cct>Tct	p.P299S	RGS4_ENST00000527809.1_Missense_Mutation_p.P184S|RGS4_ENST00000367906.3_Missense_Mutation_p.P184S|RGS4_ENST00000367909.6_Missense_Mutation_p.P202S|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	202					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCCCTGGTCCCTCAGTGTGC	0.488000													4	161					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301913	110301913	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110301913C>T	ENST00000369805.3	-	5	581	c.352G>A	c.(352-354)Gag>Aag	p.E118K	EPS8L3_ENST00000361965.4_Missense_Mutation_p.E118K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E118K|EPS8L3_ENST00000494151.1_5'UTR	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	118						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGCCCGGCTCCTGCACGGTG	0.602000													95	200					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622148	134622148	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134622148G>A	ENST00000368586.5	-	58	8025	c.7925C>T	c.(7924-7926)gCc>gTc	p.A2642V	TTC40_ENST00000263170.5_Missense_Mutation_p.A803V	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	803										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						tgcaccaagggctggggagag	0.706000													8	25					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791914	95791914	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95791914C>T	ENST00000260766.3	+	2	1745	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	PLCE1_ENST00000371380.2_Missense_Mutation_p.P371S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	371					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGAAATGGTCCCTTACTGCC	0.488000													36	64					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37440716	37440716	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37440716C>T	ENST00000415168.1	+	5	845	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P221S	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGTAACCCCCTTTAAGTG	0.368000													29	117					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58038616	58038616	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:58038616C>T	ENST00000299766.3	-	1	1385	c.967G>A	c.(967-969)Gga>Aga	p.G323R		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	323					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CAAAGGCCTCCCAGGGGATAG	0.418000													43	87					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30772331	30772331	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:30772331C>T	ENST00000405659.1	+	11	2650	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	CCDC157_ENST00000338306.3_Silent_p.S647S|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	647										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGAGCACATCCCCAGGGTGAG	0.567000													7	142					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012620	41012620	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:41012620C>T	ENST00000372699.3	+	5	876	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TCAGAAAATTCATAATGGAGA	0.428000													35	55					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373155	86373155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:86373155G>A	ENST00000604798.1	-	8	2553	c.1349C>T	c.(1348-1350)cCa>cTa	p.P450L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATATCAAATGGAATTTTTTG	0.313000													6	54					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388511	148388511	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:148388511C>T	ENST00000538184.1	-	11	2910	c.2022G>A	c.(2020-2022)cgG>cgA	p.R674R	SH3TC2_ENST00000515425.1_Silent_p.R1127R|SH3TC2_ENST00000512049.1_Silent_p.R1120R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1127							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGAAAATCCGGAGCTCAG	0.527000													62	159					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501396	71501396	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:71501396C>T	ENST00000370455.3	+	5	667	c.419C>T	c.(418-420)tCc>tTc	p.S140F	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	140					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCACAGATTTCCTCCTCTGAT	0.398000													43	117					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76510937	76510937	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76510937G>A	ENST00000389840.5	-	26	4144	c.4020C>T	c.(4018-4020)atC>atT	p.I1340I	DNAH17_ENST00000585328.1_Silent_p.I1341I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGGGACGTGATCACGTTTT	0.562000													28	118					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784034	9784034	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:9784034C>T	ENST00000304374.2	+	1	777	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	127					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)	CCACTGCCTCCATCCTGAACC	0.617000													27	58					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460315	27460315	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27460315G>A	ENST00000337929.3	+	9	1801	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G443E|IL21R_ENST00000395755.1_Missense_Mutation_p.G443E|IL21R_ENST00000564089.1_Missense_Mutation_p.G443E	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	443					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGCCCCTGGGAAGCCTCCTG	0.662000			T	BCL6	NHL								25	58					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32496994	32496994	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32496994C>T	ENST00000286827.3	-	28	4623	c.4152G>A	c.(4150-4152)aaG>aaA	p.K1384K	TIAM1_ENST00000541036.1_Silent_p.K1324K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1384	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTAGGAAATCCTTTCGGCTCT	0.458000													20	32					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48761735	48761735	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:48761735G>A	ENST00000314191.2	-	55	7313	c.7257C>T	c.(7255-7257)ttC>ttT	p.F2419F	PRKDC_ENST00000338368.3_Silent_p.F2419F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2420					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGACTTGAACGAAGTCCTTGC	0.448000								Non-homologous end-joining					35	93					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49507665	49507665	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49507665C>T	ENST00000413176.2	+	4	1268	c.120C>T	c.(118-120)gcC>gcT	p.A40A	RUVBL2_ENST00000595090.1_Silent_p.A85A|RUVBL2_ENST00000601968.1_Silent_p.A40A			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	85					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGAAGACGGCCATCGCCATGG	0.602000													37	94					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124738371	124738371	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124738371A>T	ENST00000311127.4	-	5	1390	c.1323T>A	c.(1321-1323)acT>acA	p.T441T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	441						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACCTAGACACAGTCTCAGTCT	0.493000													14	257					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73593724	73593724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:73593724C>T	ENST00000339362.5	+	29	4675	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S	NEO1_ENST00000560262.1_Missense_Mutation_p.P1357S|NEO1_ENST00000261908.6_Missense_Mutation_p.P1410S|NEO1_ENST00000558964.1_Missense_Mutation_p.P1399S			Q92859	NEO1_HUMAN	neogenin 1	1410					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGGAGCCGGCCTCCTATGCC	0.562000													26	53					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378014	67378014	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67378014C>T	ENST00000322776.6	+	5	826	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	NDUFV1_ENST00000415352.2_Silent_p.L218L|NDUFV1_ENST00000532303.1_Silent_p.L124L|NDUFV1_ENST00000529927.1_Silent_p.L216L|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	225					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CAAGCCCCGCCTGAAGCCCCC	0.617000													32	70					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18066623	18066623	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18066623C>T	ENST00000205890.5	+	59	10016	c.9678C>T	c.(9676-9678)atC>atT	p.I3226I	MYO15A_ENST00000451725.2_Silent_p.I118I|MYO15A_ENST00000418233.3_Silent_p.I490I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3226	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATCTCAAAATCAAAACATGCA	0.557000													44	108					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1294069	1294069	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:1294069G>A	ENST00000310581.5	-	2	989	c.932C>T	c.(931-933)tCg>tTg	p.S311L	TERT_ENST00000334602.6_Missense_Mutation_p.S311L|TERT_ENST00000296820.5_Missense_Mutation_p.S311L|TERT_ENST00000508104.2_Missense_Mutation_p.S311L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	311	Linker.|Required for oligomerization.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|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)			TGGTGGCCGCGATGTGGATGG	0.697000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				4	13					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168032897	168032897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:168032897G>A	ENST00000367840.3	+	18	2433	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	DCAF6_ENST00000432587.2_Missense_Mutation_p.R749Q|DCAF6_ENST00000312263.6_Missense_Mutation_p.R689Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R709Q	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	689					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTCTTCAGACGGAGAAAAGAA	0.338000													28	20					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183514227	183514227	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183514227C>T	ENST00000367537.3	+	17	2294	c.2099C>T	c.(2098-2100)cCt>cTt	p.P700L	SMG7_ENST00000347615.2_Missense_Mutation_p.P717L|SMG7_ENST00000507469.1_Missense_Mutation_p.P671L|SMG7_ENST00000456731.2_Missense_Mutation_p.P629L|SMG7_ENST00000508461.1_Missense_Mutation_p.P675L|SMG7_ENST00000515829.2_Missense_Mutation_p.P671L			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	717	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCACATTCCTTACAGCCAG	0.552000													191	189					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875614	35875614	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35875614G>A	ENST00000303115.3	+	7	930	c.800_splice	c.e7-1	p.R267_splice	IL7R_ENST00000343305.4_Splice_Site_p.G236_splice|IL7R_ENST00000506850.1_Splice_Site_p.G236_splice	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	267					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			CTGATTTCAGGATTAAGCCTA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						14	64					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42631946	42631946	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:42631946C>T	ENST00000318010.8	+	17	2163	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	641					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACCAGCCCTTCTTCCGTGGCC	0.572000													50	101					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949440	131949440	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:131949440G>A	ENST00000286355.5	-	5	3452	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.H454Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	454					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)			CGAAGGCAGTGATGCTCCTGG	0.522000										HNSCC(32;0.087)			23	36					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288739	57288739	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:57288739C>T	ENST00000543872.2	+	2	1591	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	SMG8_ENST00000300917.5_Missense_Mutation_p.P443S|SMG8_ENST00000578922.1_Missense_Mutation_p.P443S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	443					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTTGAACTTCCTACTTATCA	0.478000													31	92					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109391586	109391586	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109391586C>T	ENST00000370001.3	-	4	1398	c.1130G>A	c.(1129-1131)gGg>gAg	p.G377E	AKNAD1_ENST00000369995.3_Missense_Mutation_p.G377E|AKNAD1_ENST00000369994.1_Missense_Mutation_p.G377E|AKNAD1_ENST00000357393.4_Missense_Mutation_p.G84E	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	377										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CATCTGTTTCCCTTGGGATAT	0.343000													46	114					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131515	66131515	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66131515C>T	ENST00000590019.1	-	0	298																											TCACCTGGCCCCGGATCTTGC	0.637000													20	39					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535584	141535584	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:141535584C>T	ENST00000264952.2	+	4	1491	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	452	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGGAAACATCATTTCTTTAA	0.423000													27	86					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52596091	52596091	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52596091C>T	ENST00000591504.1	-	8	897	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	208										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)		AGACAGTTTTCTTTCTAGTAG	0.363000													17	44					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224681	248224681	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248224681G>A	ENST00000359959.3	+	1	698	c.698G>A	c.(697-699)aGg>aAg	p.R233K	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCAGAAGGGAGGAAGAAAGCC	0.473000													78	212					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411080	179411080	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179411080C>T	ENST00000589042.1	-	342	95202	c.94978G>A	c.(94978-94980)Gaa>Aaa	p.E31660K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22720K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30019K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29092K|TTN_ENST00000460472.2_Missense_Mutation_p.E22595K|TTN_ENST00000342175.6_Missense_Mutation_p.E22787K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30019	Fibronectin type-III 130.						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)			GAGACTTTTTCACAGAGATCT	0.433000													50	125					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128033064	128033064	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:128033064G>A	ENST00000338791.6	-	17	2147	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y	IMPDH1_ENST00000378717.4_Silent_p.Y530Y|IMPDH1_ENST00000470772.1_Silent_p.Y513Y|IMPDH1_ENST00000354269.5_Silent_p.Y589Y|IMPDH1_ENST00000348127.6_Silent_p.Y563Y|IMPDH1_ENST00000480861.1_Silent_p.Y509Y|IMPDH1_ENST00000419067.2_Silent_p.Y566Y|IMPDH1_ENST00000343214.4_Silent_p.Y489Y|IMPDH1_ENST00000496200.1_Silent_p.Y489Y	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	514					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GCTGTCCTCAGTACAGCCGCT	0.597000													30	119					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040466	103040466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103040466C>T	ENST00000264260.2	+	4	855	c.266C>T	c.(265-267)tCg>tTg	p.S89L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	89					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAACAACCTTCGAATGGAGAT	0.458000													30	45					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373000									Hailey-Hailey disease				47	79					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263363	39263363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:39263363C>T	ENST00000280481.7	+	1	2098	c.1882C>T	c.(1882-1884)Ctt>Ttt	p.L628F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	628					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTCAGAGGCCTTTGGAGGAA	0.542000													14	41					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032693	30032693	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:30032693G>A	ENST00000328224.6	-	2	2766	c.1533C>T	c.(1531-1533)atC>atT	p.I511I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	511						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATGCATCTGGGATGCTTTGGA	0.512000													4	123					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632099	169632099	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:169632099G>A	ENST00000366787.3	-	14	2376	c.2127C>T	c.(2125-2127)acC>acT	p.T709T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	709					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGTGGCGTTGGTGGCGCAGA	0.701000													54	18					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112642578	112642578	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:112642578C>T	ENST00000471858.1	-	7	1156	c.924G>A	c.(922-924)gtG>gtA	p.V308V	CD200R1_ENST00000295863.4_3'UTR|CD200R1_ENST00000308611.3_Silent_p.V331V	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	308					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CAGATGCCTTCACCTTGTTTG	0.378000													24	68					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46693323	46693323	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46693323A>G	ENST00000454366.1	+	2	238	c.26A>G	c.(25-27)gAg>gGg	p.E9G		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	0					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGCCGCGATGAGCCTTCAGCC	0.607000													45	91					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95840142	95840142	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95840142G>A	ENST00000375472.3	+	3	328	c.292G>A	c.(292-294)Gag>Aag	p.E98K	SUSD3_ENST00000375469.1_Missense_Mutation_p.E85K	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	98						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GCCACCACACGAGACCTTTGG	0.607000													26	66					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752784	41752784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:41752784C>T	ENST00000352645.4	+	22	2910	c.2653C>T	c.(2653-2655)Ccc>Tcc	p.P885S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P885S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	901					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCCGCTTCCCCATGGGCGA	0.657000													18	162					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439880	52439880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52439880G>A	ENST00000242819.4	+	2	662	c.366G>A	c.(364-366)tgG>tgA	p.W122*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	122						extracellular region|plasma membrane		p.W122*(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAACTTTCTGGAAAAAGTACC	0.468000													76	170					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875238	36875238	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36875238G>A	ENST00000429976.2	-	21	5951	c.5704C>T	c.(5704-5706)Cgg>Tgg	p.R1902W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1352W|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1352W			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1902					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGCGTTTCCGAGACTTCAAG	0.512000													60	112					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348762	89348762	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:89348762G>A	ENST00000301030.4	-	9	4648	c.4188C>T	c.(4186-4188)ttC>ttT	p.F1396F	ANKRD11_ENST00000378330.2_Silent_p.F1396F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1396	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGCCTCCAGGAAGTCCTTTT	0.463000													7	133					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119235	93119235	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:93119235C>T	ENST00000216487.7	+	6	2000	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	614	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GACAAGGGCTCGTACTTTGGC	0.582000													27	44					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649318	48649318	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48649318C>T	ENST00000352832.5	+	5	1038	c.666C>T	c.(664-666)ttC>ttT	p.F222F	CACNA1G_ENST00000515411.1_Silent_p.F222F|CACNA1G_ENST00000514717.1_Silent_p.F222F|CACNA1G_ENST00000429973.2_Silent_p.F222F|CACNA1G_ENST00000503485.1_Silent_p.F222F|CACNA1G_ENST00000514181.1_Silent_p.F222F|CACNA1G_ENST00000515165.1_Silent_p.F222F|CACNA1G_ENST00000514079.1_Silent_p.F222F|CACNA1G_ENST00000416767.4_Silent_p.F222F|CACNA1G_ENST00000359106.5_Silent_p.F222F|CACNA1G_ENST00000505165.1_Silent_p.F222F|CACNA1G_ENST00000513964.1_Silent_p.F222F|CACNA1G_ENST00000502264.1_Silent_p.F222F|CACNA1G_ENST00000358244.5_Silent_p.F222F|CACNA1G_ENST00000512389.1_Silent_p.F222F|CACNA1G_ENST00000510115.1_Silent_p.F222F|CACNA1G_ENST00000510366.1_Silent_p.F222F|CACNA1G_ENST00000360761.4_Silent_p.F222F|CACNA1G_ENST00000513689.2_Silent_p.F222F|CACNA1G_ENST00000507336.1_Silent_p.F222F|CACNA1G_ENST00000442258.2_Silent_p.F222F|CACNA1G_ENST00000507510.2_Silent_p.F222F|CACNA1G_ENST00000354983.4_Silent_p.F222F|CACNA1G_ENST00000507609.1_Silent_p.F222F|CACNA1G_ENST00000515765.1_Silent_p.F222F|CACNA1G_ENST00000507896.1_Silent_p.F222F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	222					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			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)	TCTTCGTCTTCTTCATCTTCG	0.602000													43	57					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544610G>A	ENST00000423517.2	-	7	13029	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F|PCLO_ENST00000437081.1_Missense_Mutation_p.S951F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		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						TGCCCTGGAGGAAATGCCACC	0.388000													6	91					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845198	65845198	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65845198C>T	ENST00000395325.3	+	5	643	c.486C>T	c.(484-486)gtC>gtT	p.V162V	DNAJC6_ENST00000371069.4_Silent_p.V219V|DNAJC6_ENST00000263441.7_Silent_p.V149V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	162	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCTGTGTTGTCCACTGCTTGG	0.448000													9	268					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21695476	21695476	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21695476C>T	ENST00000328843.6	+	29	5017	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F	DNAH11_ENST00000409508.3_Silent_p.F1657F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1662	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAAACTTTTCGACAGCATTG	0.383000									Kartagener syndrome				10	33					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076323	93076323	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:93076323G>A	ENST00000510627.4	-	1	1020	c.947C>T	c.(946-948)tCc>tTc	p.S316F	FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGGGGCAGAGGAGTGGGCTAC	0.612000													23	59					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20832992	20832992	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20832992C>T	ENST00000359062.3	+	16	3253	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1071	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGAGAAAAATCTACTGCCAAA	0.373000													28	71					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509411	149509411	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149509411G>A	ENST00000378016.2	+	0	9809							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTGTGGGGGAGGCCTGCGG	0.721000													6	22					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483910	88483910	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:88483910G>A	ENST00000394480.1	-	15	1981	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	NTRK3_ENST00000557856.1_Silent_p.L546L|NTRK3_ENST00000558676.1_Silent_p.L546L|NTRK3_ENST00000357724.2_Silent_p.L546L|NTRK3_ENST00000542733.2_Silent_p.L456L|NTRK3_ENST00000355254.2_Silent_p.L554L|NTRK3_ENST00000360948.2_Silent_p.L554L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	554	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACTCGGCCAGGAAGACCTTT	0.572000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			57	111					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332401	22332401	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:22332401C>T	ENST00000558896.1	+	0	208																											ACTTGATATTCTTGGCTTGAT	0.328000													5	87					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232879	134232879	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:134232879C>T	ENST00000250160.6	+	3	511	c.405C>T	c.(403-405)tcC>tcT	p.S135S	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	135	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACGGCCAGTCCTTCCAGCCTA	0.672000													83	123					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91396269	91396269	+	Missense_Mutation	SNP	G	G	T	rs142841602		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:91396269G>T	ENST00000261172.3	-	2	166	c.74C>A	c.(73-75)tCc>tAc	p.S25Y		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	25					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ATAGTTGATGGACTCTAGAGT	0.378000													13	121					2.23348e-06	2.24224e-06	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3313147	3313147	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3313147C>T	ENST00000378398.3	+	6	751	c.669C>T	c.(667-669)ccC>ccT	p.P223P	PRDM16_ENST00000514189.1_Silent_p.P223P|PRDM16_ENST00000378391.2_Silent_p.P222P|PRDM16_ENST00000511072.1_Silent_p.P223P|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.P222P|PRDM16_ENST00000441472.2_Silent_p.P222P|PRDM16_ENST00000270722.5_Silent_p.P222P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	222					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAGTGCCGCCCGGCCTGGACG	0.637000			T	EVI1	"""MDS, AML"""								4	7					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822238	43822238	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:43822238G>A	ENST00000389420.3	-	26	3750	c.3751C>T	c.(3751-3753)Cgc>Tgc	p.R1251C	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R369C|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1251C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1251	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCAAAGGGCGAACTTCAGGA	0.478000													18	42					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903161	129903161	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:129903161C>T	ENST00000368654.3	-	13	7318	c.6943G>A	c.(6943-6945)Gac>Aac	p.D2315N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1955N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2315	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGCCAGGTCTTCTAGAGCC	0.488000													17	445					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719730	160719730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160719730G>A	ENST00000368043.3	+	3	533	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SLAMF7_ENST00000368042.3_Missense_Mutation_p.A59T|SLAMF7_ENST00000458104.2_Missense_Mutation_p.A59T|SLAMF7_ENST00000359331.4_Missense_Mutation_p.A166T|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.A59T|SLAMF7_ENST00000441662.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	166	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TACCTGGAAGGCCCTGGGGCA	0.517000													49	178					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147811	44147811	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44147811G>A	ENST00000542245.1	+	14	1589	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	CAPN11_ENST00000398776.1_Silent_p.G517G			Q9UMQ6	CAN11_HUMAN	calpain 11	517	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCCTCCGGGGGAATATATCA	0.532000													8	160					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196757391	196757391	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196757391C>T	ENST00000471440.2	+	4	550	c.476C>T	c.(475-477)tCc>tTc	p.S159F	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000367425.4_Missense_Mutation_p.S159F					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GGATTCATTTCCGAATCTTCC	0.254000													4	104					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141276	25141276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25141276G>A	ENST00000260600.5	-	1	1432	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	194					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAGACCACGGAGATGATCAC	0.632000													6	90					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10790537	10790537	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10790537C>T	ENST00000449870.1	+	8	1110	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ILF3_ENST00000407004.3_Missense_Mutation_p.P265S|ILF3_ENST00000592763.1_Missense_Mutation_p.P265S|ILF3_ENST00000588657.1_Missense_Mutation_p.P265S|ILF3_ENST00000420083.1_Missense_Mutation_p.P265S|ILF3_ENST00000250241.8_Missense_Mutation_p.P265S|ILF3_ENST00000589998.1_Missense_Mutation_p.P265S|ILF3_ENST00000590261.1_Missense_Mutation_p.P265S|ILF3_ENST00000318511.3_Missense_Mutation_p.P265S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	265	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGCCAACAGACCGATGGGTGC	0.627000													19	43					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824877	124824877	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124824877G>A	ENST00000356219.3	-	37	5627	c.5472C>T	c.(5470-5472)tcC>tcT	p.S1824S	NCOR2_ENST00000405201.1_Silent_p.S1817S|NCOR2_ENST00000404121.2_Silent_p.S1378S|NCOR2_ENST00000397355.1_Silent_p.S1808S|NCOR2_ENST00000429285.2_Silent_p.S1807S|NCOR2_ENST00000404621.1_Silent_p.S1807S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1825					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGTCGTGGTGGACGTGAGGA	0.667000													11	47					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093614	40093614	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40093614G>A	ENST00000299092.3	-	4	1462	c.1264C>T	c.(1264-1266)Cca>Tca	p.P422S	GPR176_ENST00000543580.1_Missense_Mutation_p.P378S|GPR176_ENST00000561100.1_Missense_Mutation_p.P423S	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	423					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCAGGGGTGGGGCAGAGGGC	0.577000													87	190					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48952829	48952829	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:48952829G>A	ENST00000294954.7	-	4	390	c.369C>T	c.(367-369)ccC>ccT	p.P123P	LHCGR_ENST00000344775.3_Silent_p.P123P|LHCGR_ENST00000405626.1_Silent_p.P123P|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Silent_p.P123P|LHCGR_ENST00000403273.1_Silent_p.P123P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	123					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATTTTAATCGGGGAAGATTTA	0.368000													89	129					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30054432	30054432	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:30054432C>T	ENST00000222803.5	-	4	730	c.555G>A	c.(553-555)gaG>gaA	p.E185E	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	185	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CAAAAATATCCTCCACCAAAG	0.333000													43	49					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607262	84607262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84607262G>A	ENST00000344803.2	+	4	1924	c.1877G>A	c.(1876-1878)tGg>tAg	p.W626*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CATCTGGAGTGGAACGTGTTG	0.473000													5	108					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524499	37524499	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37524499G>A	ENST00000216223.5	-	10	1491	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	431					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGACTGGGGGAGAAGAGCA	0.667000													15	39					0	0	1	0	0
LZTS3	9762	broad.mit.edu	37	20	3147606	3147606	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3147606G>A	ENST00000329152.3	-	1	1601	c.204C>T	c.(202-204)ttC>ttT	p.F68F	LZTS3_ENST00000360342.3_Silent_p.F68F|LZTS3_ENST00000337576.5_Silent_p.F68F	NM_014731.2	NP_055546.1																					GGGGGCCAGGGAAACTGCCCT	0.687000													14	28					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76703282	76703282	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76703282G>A	ENST00000264917.5	+	13	1410	c.1365_splice	c.e13+1	p.K455_splice	PDE8B_ENST00000346042.3_Splice_Site_p.K358_splice|PDE8B_ENST00000342343.4_Splice_Site_p.K435_splice|PDE8B_ENST00000333194.4_Splice_Site_p.K455_splice|PDE8B_ENST00000340978.3_Splice_Site_p.K408_splice	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	455					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCATCACAAAGGTGAGTGGCG	0.567000													25	74					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920103	30920103	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30920103A>C	ENST00000462446.1	+	2	3890	c.3862A>C	c.(3862-3864)Aca>Cca	p.T1288P	DPCR1_ENST00000304311.2_Missense_Mutation_p.T130P|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	412						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAGTTCTATCACATCAGAAGC	0.443000													49	145					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110932	55110932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55110932G>A	ENST00000314721.2	+	1	306	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTACTCTGTGATAAAATCGC	0.443000													85	193					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826558	143826558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143826558C>T	ENST00000408899.2	+	1	408	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTGGTGATGTCCTATGATCGC	0.483000													87	302					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602850	10602850	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10602850G>A	ENST00000171111.5	-	3	1275	c.728C>T	c.(727-729)tCc>tTc	p.S243F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S243F|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	243	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S243C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAAGACCTCGGACTCGCAGCG	0.632000													24	78					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032056	142032056	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142032056C>T	ENST00000547918.2	+	0	51																											CAAGGCTCCTCTGCTGGGCAG	0.562000													15	65					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058000	152058000	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152058000G>A	ENST00000368806.1	-	3	2222	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	720							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTTCTAACAGAGTATTCTGG	0.443000													149	135					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415556	74415556	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74415556G>A	ENST00000376332.3	-	7	1222	c.726C>T	c.(724-726)atC>atT	p.I242I	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I242I	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	242					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTTCAGGACGATCTTGACAG	0.637000													41	84					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868615	129868615	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:129868615G>A	ENST00000254667.3	+	14	1473	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	PTPRE_ENST00000419012.2_Silent_p.G398G|PTPRE_ENST00000306042.5_Silent_p.G340G	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	398					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ACCTCTACGGGGACACAGAGC	0.592000													35	62					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65502060	65502060	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65502060G>A	ENST00000261883.4	-	2	200	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	12					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCAGGACCAGGAAGGAGAAC	0.547000													10	94					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153324	101153324	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101153324G>A	ENST00000428847.2	-	2	1474	c.1158C>T	c.(1156-1158)acC>acT	p.T386T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	386					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTTCCCGAAGGGTGGACAGTC	0.483000													59	96					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65021082	65021082	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65021082C>T	ENST00000262138.3	+	3	413	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	137					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AGAACAACATCGTCCTCAGTG	0.662000													51	162					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117053	106117053	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:106117053A>G	ENST00000357242.5	+	21	3395	c.3221A>G	c.(3220-3222)cAg>cGg	p.Q1074R	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q1068R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1074						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGAACCTCAGTGGTCATTT	0.448000													57	36					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208965	140208965	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140208965G>A	ENST00000529310.1	+	1	1403	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G430E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGACGGGGGCTCGCCT	0.622000													88	190					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210607	15210607	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:15210607C>T	ENST00000217246.4	+	6	835	c.440C>T	c.(439-441)cCa>cTa	p.P147L	MACROD2_ENST00000310348.4_Missense_Mutation_p.P147L|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	147	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACTGTAGGGCCAATAGCCAGG	0.348000													22	54					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276591	97276591	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97276591C>T	ENST00000599854.1	-	11	1397	c.930G>A	c.(928-930)aaG>aaA	p.K310K	KANSL3_ENST00000441706.2_Silent_p.K310K|KANSL3_ENST00000440133.1_Silent_p.K191K|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.K397K	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	397																	GGACTGGAGTCTTCATATCCA	0.458000													78	135					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15886086	15886086	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:15886086C>T	ENST00000375847.3	+	8	1253	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	DNAJC16_ENST00000375849.1_Silent_p.A363A|DNAJC16_ENST00000375838.1_Silent_p.A363A	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	363					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TATTGGCAGCCAGGCTCACCA	0.453000													9	194					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73002872	73002872	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:73002872G>A	ENST00000377126.2	-	2	1815	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	185					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CGTCTGAGCGGGAGAACTTTT	0.522000													4	55					0	0	1	0	0
CRB3	92359	broad.mit.edu	37	19	6466968	6466968	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6466968C>T	ENST00000356762.3	+	5	469	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	CRB3_ENST00000600229.1_3'UTR|CRB3_ENST00000598494.1_3'UTR	NM_174881.2	NP_777377.1	Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	0					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						TCAGTTCTCCCATGCAGCCGA	0.637000													74	153					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722940	94722940	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94722940G>A	ENST00000304338.3	+	17	2163	c.2010_splice	c.e17+1	p.R670_splice		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	670						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTGTAAAAAGAGTAAGTATC	0.353000													8	32					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186954068	186954068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186954068C>T	ENST00000296280.6	-	11	1816	c.1591G>A	c.(1591-1593)Gca>Aca	p.A531T	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.A418T|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	530	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGTTGACTGCCCCCGATTTG	0.572000													36	84					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52580350	52580350	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52580350C>T	ENST00000395489.2	-	10	1204	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	A1CF_ENST00000373993.1_Missense_Mutation_p.E277K|A1CF_ENST00000395495.1_Missense_Mutation_p.E222K|A1CF_ENST00000374001.1_Missense_Mutation_p.E277K|A1CF_ENST00000373995.3_Missense_Mutation_p.E285K|A1CF_ENST00000373997.3_Missense_Mutation_p.E277K|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.E277K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	277	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACTGCATCTTCTCGGTTACTG	0.383000													40	60					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620305	68620305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:68620305G>A	ENST00000234313.7	+	7	953	c.774G>A	c.(772-774)agG>agA	p.R258R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	258	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGCATAGAAGGAAAAACTGGA	0.428000													57	152					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505970	178505970	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:178505970G>A	ENST00000315475.6	+	5	843	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCACACAACAGAGTGTTCCTA	0.353000													37	84					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466002	24466002	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:24466002C>T	ENST00000382137.3	-	3	496	c.428G>A	c.(427-429)gGg>gAg	p.G143E	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G143E|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	143	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCCCAAAGGCCCAATGTTGCC	0.647000													16	52					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722076	53722076	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53722076G>A	ENST00000536324.2	-	3	1433	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	SP7_ENST00000537210.2_Missense_Mutation_p.P366S|SP7_ENST00000303846.3_Missense_Mutation_p.P384S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACTGGGAGGGGGACCCGGG	0.662000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864420	153864420	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:153864420C>T	ENST00000511601.1	+	2	399	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	FHDC1_ENST00000260008.3_Missense_Mutation_p.P71S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	71					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGGGGAGCCTCCCATCCCACC	0.567000													31	22					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235047	33235047	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33235047C>T	ENST00000445902.2	-	11	1261	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.G223E	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	348					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCGCGGGTTCCTAGGGTGAA	0.567000													39	130					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544307	82544307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544307G>A	ENST00000423517.2	-	7	13332	c.12995C>T	c.(12994-12996)tCa>tTa	p.S4332L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4332L|PCLO_ENST00000437081.1_Missense_Mutation_p.S1052L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4263					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						GGCAGAGGATGATGCATGACT	0.423000													24	99					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151700020	151700020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151700020G>A	ENST00000392800.2	+	6	1134	c.880G>A	c.(880-882)Gga>Aga	p.G294R	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.G294R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	294						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TGAGATGGATGGACCAGAAGG	0.408000													8	180					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604142	57604142	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57604142C>T	ENST00000243077.3	+	82	13099	c.12633C>T	c.(12631-12633)ttC>ttT	p.F4211F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4211	EGF-like 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGCTGTTTCCTCAATGCAC	0.627000													47	79					0	0	1	0	0
LCE4A	199834	broad.mit.edu	37	1	152681657	152681657	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152681657C>T	ENST00000368777.1	+	2	362	c.106C>T	c.(106-108)Cca>Tca	p.P36S	LCE4A_ENST00000335535.3_Missense_Mutation_p.P36S			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	36	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			ATGCCCACCTCCAATCTCTTC	0.597000													73	214					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94750136	94750136	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94750136G>A	ENST00000289495.5	+	3	1857	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	PPP1R9A_ENST00000424654.1_Silent_p.R547R|PPP1R9A_ENST00000456331.2_Silent_p.R547R|PPP1R9A_ENST00000340694.4_Silent_p.R547R|PPP1R9A_ENST00000433360.1_Silent_p.R547R|PPP1R9A_ENST00000433881.1_Silent_p.R547R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	547	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGCTCAACGGGATGGCAGGT	0.388000										HNSCC(28;0.073)			59	195					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319743	31319743	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31319743C>T	ENST00000269197.5	+	11	2375	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGCCAAACCTCTGGGAGAG	0.473000													13	37					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692789	153692789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153692789G>A	ENST00000369682.3	+	9	2048	c.1873G>A	c.(1873-1875)Ggc>Agc	p.G625S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	625					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGAGACAGGCGTGAGGTT	0.652000													36	49					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33068887	33068887	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33068887C>A	ENST00000397149.3	-	4	486	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	146						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AAGGCCTGGGCAATTGCTGCT	0.493000													29	45					2.85442e-18	2.88133e-18	1	1	0
SPATS2L	26010	broad.mit.edu	37	2	201337685	201337685	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:201337685C>T	ENST00000409988.3	+	12	1714	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SPATS2L_ENST00000451764.2_Silent_p.P397P|SPATS2L_ENST00000409755.3_Silent_p.P427P|SPATS2L_ENST00000409140.3_Silent_p.P397P|SPATS2L_ENST00000409151.1_Silent_p.P405P|SPATS2L_ENST00000409718.1_Silent_p.P397P|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000358677.4_Silent_p.P397P|SPATS2L_ENST00000360760.5_Silent_p.P328P|SPATS2L_ENST00000409385.1_Silent_p.P337P	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	397						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ACAATAAGCCCTCTGAAGGCA	0.572000													5	79					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81703748	81703748	+	Splice_Site	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81703748A>C	ENST00000537098.3	+	8	899	c.825_splice	c.e8-1	p.D276_splice	CMIP_ENST00000398040.4_Splice_Site_p.D123_splice|CMIP_ENST00000539778.2_Splice_Site_p.D182_splice|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	242						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCTCCACAGGACTTTGGGAAG	0.597000													6	10					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482380	76482380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76482380G>A	ENST00000389840.5	-	45	7109	c.6985C>T	c.(6985-6987)Ccc>Tcc	p.P2329S	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2338S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCCCTGGGGGAGTCGGGG	0.622000													32	93					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976655	107976655	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107976655C>T	ENST00000372129.2	-	1	2996	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	974						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTGAGAGGTCGTTTGCTGGA	0.483000													5	160					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111372079	111372079	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111372079C>T	ENST00000375774.3	+	2	1531	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	ING1_ENST00000375775.3_Silent_p.L145L|ING1_ENST00000333219.7_Silent_p.L214L|ING1_ENST00000338450.7_Silent_p.L170L	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	357					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CACGTACTGTCTGTGCAACCA	0.607000													10	95					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894554	77894554	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:77894554C>T	ENST00000262198.4	+	4	1713	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	420	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGTGTTCTTCCTGTGAGCCC	0.607000													55	80					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10584176	10584176	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:10584176C>T	ENST00000304501.1	-	2	317	c.238_splice	c.e2-1	p.G80_splice	SOX7_ENST00000553390.1_Splice_Site_p.G132_splice|SOX7_ENST00000554914.1_Splice_Site_p.G132_splice	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	80					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCACGACTTTCCTGCTCACAC	0.627000													22	51					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249150050	249150050	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:249150050G>A	ENST00000451251.1	-	7	1115	c.770C>T	c.(769-771)cCt>cTt	p.P257L	ZNF692_ENST00000306601.4_Missense_Mutation_p.P252L|ZNF692_ENST00000366471.3_Missense_Mutation_p.P207L|ZNF692_ENST00000427146.1_Missense_Mutation_p.P207L|ZNF692_ENST00000366469.5_Missense_Mutation_p.P251L|ZNF692_ENST00000468455.1_5'UTR	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACAGCAAGAGGACTGGAGAG	0.602000													5	89					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242380843	242380843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242380843C>T	ENST00000264042.3	+	13	1453	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	FARP2_ENST00000545004.1_Missense_Mutation_p.S428F|FARP2_ENST00000373287.4_Missense_Mutation_p.S428F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	428	Poly-Ser.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCAGCAGCTCCCTCACAGAT	0.617000													47	57					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220275907	220275907	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:220275907C>T	ENST00000366922.1	+	6	935	c.604C>T	c.(604-606)Cct>Tct	p.P202S	IARS2_ENST00000302637.5_Missense_Mutation_p.P274S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	274					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAAAATTTCCTCTCTTAAA	0.323000													59	69					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34107461	34107461	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:34107461T>A	ENST00000361264.4	-	3	777	c.436A>T	c.(436-438)Atc>Ttc	p.I146F	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	146						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTCAGCTCGATGGCATGGATA	0.532000													37	67					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710978	77710978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:77710978G>A	ENST00000328313.5	+	4	1386	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	389					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGTGTACGAGCTCATGTG	0.632000													13	73					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6553455	6553455	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:6553455C>A	ENST00000321612.6	-	20	2520	c.2370G>T	c.(2368-2370)cgG>cgT	p.R790R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCTCATTCCGCTTTAGTG	0.483000													60	25					2.6711e-34	2.70347e-34	1	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47241517	47241517	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47241517C>T	ENST00000300404.2	+	8	1073	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	B4GALNT2_ENST00000393354.2_Silent_p.I278I|B4GALNT2_ENST00000504681.1_Silent_p.I252I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	338					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGCTCATGATCATGCTCCGGA	0.493000													102	135					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333045	25333045	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25333045G>A	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CCATGTATAGGAAATTTCTTG	0.478000													10	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089247	9089247	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9089247G>A	ENST00000397910.4	-	1	2771	c.2568C>T	c.(2566-2568)tcC>tcT	p.S856S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	856	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						ATAGATGAGTGGAAGGAGTAG	0.463000													29	61					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101096461	101096461	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:101096461C>T	ENST00000537026.1	-	6	669	c.310G>A	c.(310-312)Gag>Aag	p.E104K	NXF5_ENST00000361708.2_Missense_Mutation_p.E104K|NXF5_ENST00000473265.2_Missense_Mutation_p.E104K	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	104					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTAGCATCTCCATTTGGCCT	0.488000													6	79					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749126	8749126	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:8749126A>C	ENST00000276282.6	-	1	2029	c.1443T>G	c.(1441-1443)gaT>gaG	p.D481E		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	481	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CATAACTTTCATCCCCAGCTA	0.602000													48	63					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578814	49578814	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49578814G>A	ENST00000371175.4	-	7	1016	c.990C>T	c.(988-990)gtC>gtT	p.V330V	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	330					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGAGGTTATGGACCCCACATG	0.418000													29	124					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495572	27495572	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27495572G>A	ENST00000356183.4	-	25	3976	c.3961C>T	c.(3961-3963)Cgc>Tgc	p.R1321C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1321C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1321						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTATGTAGCGAGCTCTTCGT	0.488000													7	107					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058524	19058524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19058524C>T	ENST00000421369.3	+	12	1921	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	TMC7_ENST00000569532.1_Missense_Mutation_p.P565S|TMC7_ENST00000304381.5_Missense_Mutation_p.P565S	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	565						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCCCTTCTCCCTGCAATTGC	0.512000													142	349					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416570	113416570	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113416570C>T	ENST00000272542.3	+	7	1486	c.947C>T	c.(946-948)aCa>aTa	p.T316I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	316					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GAGGAGAGAACAGTCTCATTC	0.493000													37	90					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036759	133036759	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133036759G>A	ENST00000262283.5	-	18	2138	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	OC90_ENST00000603859.1_Missense_Mutation_p.P468L|OC90_ENST00000254627.3_Missense_Mutation_p.P468L|OC90_ENST00000443356.2_Missense_Mutation_p.P484L			Q02509	OC90_HUMAN	otoconin 90	484					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GATCCCCAAGGGACCCAGTGA	0.592000													14	33					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67022560	67022560	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:67022560G>A	ENST00000340001.4	-	16	2310	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	ABCA9_ENST00000453985.2_Missense_Mutation_p.S700F|ABCA9_ENST00000370732.2_Missense_Mutation_p.S700F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	700	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAGGAACAGAGAAGAGCCTGC	0.418000													144	390					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52515741	52515741	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:52515741C>T	ENST00000261839.7	-	29	3788	c.3627_splice	c.e29+1	p.M1209_splice		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1209						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GAGACCATACCATGTTCTCTG	0.438000													25	61					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476271	22476271	+	RNA	SNP	C	C	T	rs140297772	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22476271C>T	ENST00000390447.3	+	0	318																											AATTGGTTTTCCTTATTCGTC	0.418000													14	25					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48524734	48524734	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:48524734G>A	ENST00000422556.1	-	2	643	c.294C>T	c.(292-294)aaC>aaT	p.N98N	SPATA2_ENST00000289431.5_Silent_p.N98N|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	98					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGAGGAAGAGGTTGATGCCCA	0.597000													92	166					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821460	26821460	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26821460T>G	ENST00000444914.3	+	9	1805	c.1385T>G	c.(1384-1386)gTg>gGg	p.V462G	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V370G|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V413G|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V342G	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	413						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGGAAGACGGTGAACCAGAAG	0.577000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	97					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25353256	25353256	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25353256T>A	ENST00000302874.4	+	8	980	c.956T>A	c.(955-957)tTt>tAt	p.F319Y	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	319							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTCCCCTATTTTTTTGAATCC	0.353000													4	109					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010079	71010079	+	Missense_Mutation	SNP	G	G	A	rs138845753		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71010079G>A	ENST00000354624.5	+	11	1737	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	HKDC1_ENST00000395086.2_Missense_Mutation_p.G535E	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	535					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATCTTGGGGGAACCAACTTC	0.547000													13	305					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915063	119915063	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:119915063C>T	ENST00000331113.4	+	1	1342	c.377C>T	c.(376-378)cCg>cTg	p.P126L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	126					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGCCTCATCCCGGAAATCATC	0.582000													126	303					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230148	140230148	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140230148G>A	ENST00000378122.3	+	1	2792	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PCDHA9_ENST00000532602.1_Missense_Mutation_p.E690K|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCCCCGAGGTGACGCT	0.657000													19	142					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676615	138676615	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138676615C>T	ENST00000298480.5	+	27	3110	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	KCNT1_ENST00000371757.2_Silent_p.I1012I|KCNT1_ENST00000263604.3_Silent_p.I993I|KCNT1_ENST00000486577.2_Silent_p.I971I|KCNT1_ENST00000488444.2_Silent_p.I993I|KCNT1_ENST00000487664.1_Silent_p.I967I|KCNT1_ENST00000490355.2_Silent_p.I991I|KCNT1_ENST00000491806.2_Silent_p.I979I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1012						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGATGAAAATCACCGAGGGCG	0.647000													45	124					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298567	125298567	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:125298567C>T	ENST00000538699.1	-	2	1421	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	DCAF12L2_ENST00000360028.2_Silent_p.G447G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	447										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAGAGGCCCCCCAGCCACAA	0.557000													67	32					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27188527	27188527	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:27188527G>A	ENST00000335625.5	+	10	1931	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D|GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	348					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.G348D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACCAAGAGAGGCTGGGCCTGG	0.527000													4	10					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40488926	40488926	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:40488926G>A	ENST00000309930.5	+	10	902	c.878G>A	c.(877-879)gGa>gAa	p.G293E	C7orf10_ENST00000401647.2_Missense_Mutation_p.G245E|C7orf10_ENST00000335693.4_Missense_Mutation_p.G293E	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	293							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GTTGGAGCAGGAAATAACCAG	0.363000													9	16					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944196	50944196	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50944196C>T	ENST00000357701.5	+	8	683	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	211					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTAGGCATCCCCCCGGAGATT	0.582000													16	32					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407869	49407869	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:49407869G>A	ENST00000299191.3	+	1	136	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	7										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCAACAAATGGACCTGAAGGA	0.522000													42	44					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747388	139747388	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:139747388C>T	ENST00000230993.6	+	16	2366	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	SLC4A9_ENST00000507527.1_Silent_p.V777V|SLC4A9_ENST00000506757.2_Silent_p.V753V|SLC4A9_ENST00000506545.1_Silent_p.V690V|SLC4A9_ENST00000432095.2_Silent_p.V739V	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	777	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGTATGTCTCAGCCACTG	0.597000													4	40					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611186	62611186	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:62611186C>T	ENST00000281156.4	-	5	852	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATCCCTCTGCCTCTAATACCT	0.408000													77	54					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284451	223284451	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223284451G>A	ENST00000540964.1	-	4	2384	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	TLR5_ENST00000342210.6_Silent_p.S641S			O60602	TLR5_HUMAN	toll-like receptor 5	641			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAATGAAAAGGGAGAACTTTA	0.453000													13	124					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7412420	7412420	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7412420C>T	ENST00000322644.6	+	21	4022	c.3623C>T	c.(3622-3624)tCc>tTc	p.S1208F		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1208					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCCGAATCTCCCCCTGGCTG	0.537000													22	37					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35168150	35168150	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:35168150G>A	ENST00000156471.5	-	28	3448	c.3223C>T	c.(3223-3225)Cct>Tct	p.P1075S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1075						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAAGAAGAGGGATAAAAGTT	0.373000													32	77					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333123	33333123	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33333123C>T	ENST00000023064.4	-	11	1366	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G392E|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G392E	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	392					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACGATGAGTCCTAGAATCGT	0.423000													26	74					0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111800797	111800797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:111800797G>A	ENST00000450786.2	-	2	538	c.377C>T	c.(376-378)cCc>cTc	p.P126L	FAM109A_ENST00000392658.5_Silent_p.S145S|FAM109A_ENST00000547838.2_Silent_p.S145S|FAM109A_ENST00000548163.1_Silent_p.S145S|FAM109A_ENST00000361483.3_Silent_p.S158S			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	166					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						gcaagggcagggactggggct	0.756000													3	14					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109844640	109844640	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109844640G>A	ENST00000310903.5	+	9	1068	c.962G>A	c.(961-963)aGa>aAa	p.R321K	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.R321K			B4DNW6	B4DNW6_HUMAN	myosin IH	68						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTCACCCACAGAAAAATTGAA	0.498000													7	92					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788182	10788182	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10788182C>T	ENST00000283025.2	-	1	620	c.549G>A	c.(547-549)gtG>gtA	p.V183V		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	183					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						ATGGGCAGTTCACCTCATTGG	0.572000													140	300					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076416	3076416	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:3076416C>T	ENST00000397461.1	+	16	2268	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	CNTN4_ENST00000418658.1_Silent_p.T628T|CNTN4_ENST00000358480.3_Silent_p.T409T|CNTN4_ENST00000448906.2_Silent_p.T300T|CNTN4_ENST00000427331.1_Silent_p.T628T|CNTN4_ENST00000397459.2_Silent_p.T300T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	628	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCCCATCACCATGTATGTCA	0.547000													13	113					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284571	52284571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52284571C>T	ENST00000301190.6	+	5	1068	c.841C>T	c.(841-843)Cct>Tct	p.P281S	ANKRD33_ENST00000538991.1_Missense_Mutation_p.P87S|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.P156S	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	156										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ccaggTTGCCCCTTCACTCCT	0.667000													12	32					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142948	41142948	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41142948C>T	ENST00000380588.4	+	4	627	c.524C>T	c.(523-525)tCc>tTc	p.S175F	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	175	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CCGGATATTTCCTGGGAGCTC	0.522000													40	68					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28419874	28419874	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:28419874T>C	ENST00000394835.3	+	22	4433	c.4241T>C	c.(4240-4242)tTa>tCa	p.L1414S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.L1290S|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1414							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AACAAATATTTAGTCAACAAT	0.343000													30	60					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80919005	80919005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80919005C>T	ENST00000576599.1	-	8	1070	c.320G>A	c.(319-321)gGc>gAc	p.G107D	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G218D			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	218							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCGGATGACGCCGCCGCCCTT	0.692000													8	22					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151482	168151482	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:168151482C>T	ENST00000519560.1	-	21	2697	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E760K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E760K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	760					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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			TGGTTTCCTTCCAGGTACCTG	0.512000													10	38					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029711	193029711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193029711C>T	ENST00000342358.4	-	20	2456	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	780					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGAACTGTTTCCAGTATGCAT	0.408000													36	75					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367836	57367836	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57367836C>T	ENST00000403558.1	+	2	1004	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SERPING1_ENST00000378323.4_Missense_Mutation_p.T184I|SERPING1_ENST00000378324.2_Missense_Mutation_p.T127I|SERPING1_ENST00000278407.4_Missense_Mutation_p.T179I|SERPING1_ENST00000340687.6_Missense_Mutation_p.T179I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	179					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGCCTCCTTACCCAGGTCCTG	0.507000													5	104					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819692	17819692	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:17819692A>T	ENST00000545871.1	-	3	899	c.439T>A	c.(439-441)Tcc>Acc	p.S147T	RAI2_ENST00000331511.1_Missense_Mutation_p.S147T|RAI2_ENST00000415486.3_Missense_Mutation_p.S97T|RAI2_ENST00000360011.1_Missense_Mutation_p.S147T|RAI2_ENST00000451717.1_Missense_Mutation_p.S147T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	147					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GTACTGGAGGAGCATGGGGCC	0.672000													37	78					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413198	24413198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24413198C>T	ENST00000330966.7	-	15	1899	c.1737G>A	c.(1735-1737)atG>atA	p.M579I	MYOM3_ENST00000374434.3_Missense_Mutation_p.M578I|MYOM3_ENST00000329601.7_Missense_Mutation_p.M578I|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	578	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATACTGGTTCATTGCTCGCA	0.627000													43	75					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255776	240255776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240255776C>T	ENST00000319653.9	+	1	597	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	123					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACCTCAGCCTCTCGGCGGA	0.692000													14	15					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43150590	43150590	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43150590C>T	ENST00000342374.4	-	1	160	c.3G>A	c.(1-3)atG>atA	p.M1I	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Start_Codon_SNP_p.M1I	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	1						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCACAGCCCCCATGGTGACGC	0.627000													6	11					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104026905	104026905	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104026905G>A	ENST00000445922.2	-	2	843	c.597C>T	c.(595-597)gtC>gtT	p.V199V	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Silent_p.V199V|BAG5_ENST00000337322.4_Silent_p.V240V	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	199	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GTGCAATCAGGACCCCTCGGG	0.532000													65	100					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782124	54782124	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54782124G>A	ENST00000391748.1	-	7	1375	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	LILRB2_ENST00000314446.5_Silent_p.L416L|LILRB2_ENST00000391749.4_Silent_p.L416L|LILRB2_ENST00000434421.1_Silent_p.L300L|LILRB2_ENST00000391746.1_Silent_p.L416L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	416	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGACCACGAGCTCCAGGG	0.652000													35	102					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2595510	2595510	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:2595510C>T	ENST00000261597.4	+	11	1293	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	371	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GCGAATAAATCATGAAAGAAA	0.373000													50	64					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123625061	123625061	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123625061G>A	ENST00000327930.2	-	1	192	c.166C>T	c.(166-168)Cca>Tca	p.P56S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56A(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGTACATTGGAATTTGTAGC	0.433000													42	38					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408389	50408389	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50408389G>A	ENST00000217086.4	-	2	744	c.633C>T	c.(631-633)atC>atT	p.I211I	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.I211I	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	211					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACCCACGGGATGCTGTTGG	0.622000													17	179					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39563937	39563937	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39563937G>A	ENST00000287152.7	-	7	833	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	KIF6_ENST00000373215.3_Missense_Mutation_p.H247Y|KIF6_ENST00000373216.3_Missense_Mutation_p.H247Y|KIF6_ENST00000373213.4_Missense_Mutation_p.H86Y|KIF6_ENST00000538893.1_Missense_Mutation_p.H247Y	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	247	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCAACCAGATGGAGTTTGGCA	0.473000													31	95					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74681816	74681816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:74681816G>A	ENST00000380494.5	-	14	2005	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.P417L|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.P443L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	443	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AGCTTTTAAAGGATCCAGAAC	0.373000													22	33					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507221	28507221	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28507221C>T	ENST00000564831.1	+	2	892	c.859C>T	c.(859-861)Cca>Tca	p.P287S	APOBR_ENST00000431282.1_Missense_Mutation_p.P287S|APOBR_ENST00000328423.5_Missense_Mutation_p.P287S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	287	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGACAACCCCAGGTAGGGA	0.632000													10	23					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175582	143175582	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143175582C>T	ENST00000408916.1	+	1	617	c.617C>T	c.(616-618)tCt>tTt	p.S206F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTAATTAATTCTCTGAGGAGG	0.463000													24	123					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502813	20502813	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20502813G>A	ENST00000315693.2	-	1	106	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAATCCCCACGAAGACCACAG	0.413000													32	38					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503039	149503039	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149503039G>A	ENST00000378016.2	+	0	8543							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGATGGAGGCATCCAG	0.647000													22	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89940622	89940622	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89940622G>A	ENST00000405460.2	+	15	2930	c.2834G>A	c.(2833-2835)gGg>gAg	p.G945E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	945	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CCTGTACAAGGGACTGTTGTC	0.373000													7	129					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163483254	163483254	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:163483254C>T	ENST00000337019.3	+	4	588	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	PACRG_ENST00000366888.2_Missense_Mutation_p.P122S|PACRG_ENST00000366889.2_Missense_Mutation_p.P122S	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AATGACATTTCCCTATGAGTT	0.428000													70	44					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814568	60814568	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60814568C>T	ENST00000544856.2	-	7	1036	c.658G>A	c.(658-660)Gga>Aga	p.G220R	MARCH10_ENST00000311269.5_Missense_Mutation_p.G221R|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G221R|MARCH10_ENST00000583600.1_Missense_Mutation_p.G259R			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	221							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCGGGTCTCCTTTTTTGGCT	0.512000													10	440					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100050693	100050693	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100050693G>A	ENST00000395996.1	+	3	301	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	VPS13B_ENST00000441350.2_Missense_Mutation_p.E64K|VPS13B_ENST00000358544.2_Missense_Mutation_p.E64K|VPS13B_ENST00000355155.1_Missense_Mutation_p.E64K|VPS13B_ENST00000357162.2_Missense_Mutation_p.E64K			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	64					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACATATTCATGAATTGAGGAT	0.294000													24	31					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307177	120307177	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120307177C>T	ENST00000369406.3	-	2	226	c.177G>A	c.(175-177)ctG>ctA	p.L59L	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.L59L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	59					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGTAGACCTCCAGGGCCAGGA	0.522000													33	57					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41143056	41143056	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41143056G>A	ENST00000380588.4	+	4	735	c.632G>A	c.(631-633)gGg>gAg	p.G211E	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	211	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAGAGCAATGGGACTTTGACT	0.527000													35	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395249	179395249	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179395249C>T	ENST00000589042.1	-	358	106317	c.106093G>A	c.(106093-106095)Ggt>Agt	p.G35365S	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26425S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33724S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32797S|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26300S|TTN_ENST00000342175.6_Missense_Mutation_p.G26492S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33724							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)			GACGTTCCACCTTCACCAGAA	0.358000													37	86					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56203375	56203375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56203375C>T	ENST00000411543.2	+	7	1823	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	EPN1_ENST00000270460.6_Missense_Mutation_p.P340S|EPN1_ENST00000085079.7_Missense_Mutation_p.P315S	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	340	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GACCCCAGCCCCTGCAGCTGG	0.697000													5	13					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43991260	43991260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43991260G>A	ENST00000292140.5	-	10	1525	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	389										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCAGTCCTCTGGAGGCCAATG	0.582000													3	11					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47804692	47804692	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:47804692G>A	ENST00000378460.2	-	34	4095	c.4049C>T	c.(4048-4050)gCt>gTt	p.A1350V	NUP160_ENST00000530326.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1350					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAATCCACAGCTTCTTCTAA	0.373000													7	209					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112430	64112430	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64112430C>T	ENST00000356786.5	+	14	2461	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	806					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCTGGAGTCTGCGTCCCAG	0.751000													7	7					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412552	110412552	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110412552G>A	ENST00000378402.5	+	13	1364	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	420					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ATTTTAGCCAGACTGGACTTC	0.348000										HNSCC(38;0.096)			58	89					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135602815	135602815	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135602815G>A	ENST00000356140.5	+	2	206	c.70G>A	c.(70-72)Gga>Aga	p.G24R	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	24					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GTTTGGCTACGGAGGCTGGGT	0.527000													43	102					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158687447G>A	ENST00000368146.1	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F	OR6K3_ENST00000368145.1_Silent_p.F153F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000													5	153					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34850798	34850798	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:34850798G>A	ENST00000420428.2	-	8	1427	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	CELF4_ENST00000334919.5_Silent_p.L334L|CELF4_ENST00000601019.1_Silent_p.L342L|CELF4_ENST00000588597.1_Silent_p.L333L|CELF4_ENST00000591282.1_Silent_p.L344L|CELF4_ENST00000603232.1_Silent_p.L343L|CELF4_ENST00000591287.1_Silent_p.L343L|CELF4_ENST00000412753.1_Silent_p.L343L|CELF4_ENST00000361795.5_Silent_p.L342L	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	344					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGTGGGGGGAGGCCGGTGA	0.607000													27	54					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795327	30795327	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:30795327A>T	ENST00000013222.5	+	3	668	c.652A>T	c.(652-654)Aaa>Taa	p.K218*	INMT_ENST00000409539.1_Nonsense_Mutation_p.K217*|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	218						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGCCCTGGAGAAAGAGGAGGT	0.582000													10	136					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851923	43851923	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43851923C>T	ENST00000372769.3	+	2	1740	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	550	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AACAGGAATCCAGTGAGTCAC	0.378000													21	43					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001845	98001845	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98001845G>A	ENST00000355273.2	+	1	114	c.114G>A	c.(112-114)gtG>gtA	p.V38V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTCTTGGTGATCTATCTCA	0.423000													117	266					0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368300	74368300	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74368300G>A	ENST00000290438.3	-	8	631	c.591C>T	c.(589-591)ctC>ctT	p.L197L		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	197										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						ACCACCGCTGGAGGACCGCTT	0.557000													34	164					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525120	84525120	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:84525120G>A	ENST00000360700.4	+	9	2100	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	ZNF711_ENST00000395402.1_Missense_Mutation_p.R367K|ZNF711_ENST00000373165.3_Missense_Mutation_p.R359K|ZNF711_ENST00000542798.1_Missense_Mutation_p.R201K|ZNF711_ENST00000276123.3_Missense_Mutation_p.R359K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	359					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCCAAAAAGAGGAGAAGGGGA	0.348000													23	20					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23613743	23613743	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23613743G>A	ENST00000305877.8	+	6	2636	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	BCR_ENST00000359540.3_Missense_Mutation_p.D629N	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	629	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AAGCAACAAAGATGCCAAGGA	0.532000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								23	75					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643344	138643344	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:138643344C>T	ENST00000394800.2	+	6	789	c.240C>T	c.(238-240)tcC>tcT	p.S80S	MATR3_ENST00000361059.2_Silent_p.S80S|MATR3_ENST00000502929.1_Silent_p.S80S|MATR3_ENST00000394805.3_Silent_p.S80S|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.S80S|MATR3_ENST00000509990.1_Silent_p.S80S			P43243	MATR3_HUMAN	matrin 3	80						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTACTTCTTCCCATAATTTGC	0.428000													5	149					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16371064	16371064	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16371064C>T	ENST00000375679.4	+	2	188	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		GGCCCCTGTCCCCGCATCCGC	0.647000													6	12					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117188072	117188072	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117188072C>T	ENST00000257575.4	+	4	743	c.510C>T	c.(508-510)atC>atT	p.I170I	RNFT2_ENST00000407967.3_Silent_p.I170I|RNFT2_ENST00000319176.7_Silent_p.I170I|RNFT2_ENST00000392549.2_Silent_p.I170I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	170						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCCCCTTCATCCTGATCCTCC	0.637000													10	21					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502961	140502961	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140502961G>A	ENST00000194152.1	+	1	1381	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		461	Cadherin 5.				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)			GTTCGTCCGCGAGAACAACAG	0.627000													17	255					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117040	20117040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20117040G>A	ENST00000397165.2	-	4	1431	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	ZNF682_ENST00000397162.1_Missense_Mutation_p.P392L|ZNF682_ENST00000358523.5_Missense_Mutation_p.P392L|ZNF682_ENST00000597972.1_Missense_Mutation_p.P430L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.P348L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ACAGTTGTAGGGTTTCTCTCC	0.393000													25	81					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622208	241622208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241622208G>A	ENST00000407834.3	-	1	109	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	16						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTCACAGAGGGTGAAGGTGGC	0.677000													13	68					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:71275406C>T	ENST00000395275.2	-	6	961	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000													52	175					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352321	44352321	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44352321C>T	ENST00000324461.7	+	7	1865	c.1568C>T	c.(1567-1569)gCt>gTt	p.A523V	ZNF283_ENST00000588797.1_Missense_Mutation_p.A384V	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTGGGAAGGCTTTTAATTGT	0.408000													48	110					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166183400	166183400	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166183400C>T	ENST00000375437.2	+	13	2345	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	SCN2A_ENST00000375427.2_Silent_p.S685S|SCN2A_ENST00000357398.3_Silent_p.S685S|SCN2A_ENST00000283256.6_Silent_p.S685S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	685					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGAGACGGTCCAGTTCTTATC	0.378000													50	95					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121256236	121256236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121256236C>T	ENST00000297848.3	+	20	2738	c.2468C>T	c.(2467-2469)cCt>cTt	p.P823L	COL14A1_ENST00000309791.4_Missense_Mutation_p.P823L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.P728L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	823	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTCTCCGCTCCTGGAAAAACC	0.473000													58	137					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86225414	86225414	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:86225414C>T	ENST00000394518.2	+	15	5222	c.5127C>T	c.(5125-5127)ttC>ttT	p.F1709F	AKAP13_ENST00000361243.2_Silent_p.F1713F|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1709					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.F1713L(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACAGTACCTTCCACAATACCA	0.328000													30	63					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861917	99861917	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:99861917G>A	ENST00000409679.1	-	4	333	c.189C>T	c.(187-189)atC>atT	p.I63I	LYG2_ENST00000333017.2_Silent_p.I63I|LYG2_ENST00000409238.1_Silent_p.I63I			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	63					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CAGAACCACGGATCCCTACGT	0.483000													32	53					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157704	155157704	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155157704G>A	ENST00000357232.3	-	25	6734	c.6735C>T	c.(6733-6735)atC>atT	p.I2245I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2245	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTTGTAGATGATTTCTGCAT	0.418000													11	94					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751937	247751937	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247751937G>A	ENST00000320065.1	+	1	276	c.276G>A	c.(274-276)atG>atA	p.M92I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGAACCCATGAAAACTATCG	0.522000													57	167					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251603	216251603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:216251603C>T	ENST00000366943.2	-	27	5786	c.5400G>A	c.(5398-5400)tgG>tgA	p.W1800*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W1800*|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGACTTTATTCCACTTTCCAT	0.433000										HNSCC(13;0.011)			170	440					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211467019	211467019	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211467019C>T	ENST00000233072.5	+	16	1997	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	CPS1_ENST00000430249.2_Missense_Mutation_p.P607S|CPS1_ENST00000451903.2_Missense_Mutation_p.P150S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	601	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGGCATCTGTCCCAACAGAGA	0.458000													56	99					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39001171	39001171	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39001171C>T	ENST00000355481.4	+	59	9097	c.8966C>T	c.(8965-8967)tCc>tTc	p.S2989F	RYR1_ENST00000360985.3_Missense_Mutation_p.S2989F|RYR1_ENST00000359596.3_Missense_Mutation_p.S2989F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2989					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	GTGGAAAAGTCCCCACATGAA	0.562000													34	79					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997759	66997759	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:66997759G>A	ENST00000303334.4	+	4	552	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CES3_ENST00000394037.1_Missense_Mutation_p.D161N	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	161						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CACCTCCTACGATGGATCAGC	0.602000													41	53					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335619	83335619	+	Missense_Mutation	SNP	G	G	A	rs140388339	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83335619G>A	ENST00000261722.3	-	15	1939	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	AP3B2_ENST00000535348.1_Missense_Mutation_p.R546W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R578W	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	578					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAGCGCGCCCGGTCGCGAATA	0.602000													44	91					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26124120	26124120	+	Missense_Mutation	SNP	C	C	T	rs1142845		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26124120C>T	ENST00000314332.5	-	1	18	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A5T			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	5				A -> S (in Ref. 2; CAB02545).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCAGACTTGGCTGGCTCAGGC	0.507000													8	229					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388571	64388571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:64388571C>T	ENST00000476120.1	+	4	936	c.865C>T	c.(865-867)Cct>Tct	p.P289S	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.P224S	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGAAGAGAAACCTTACAAATG	0.333000													36	74					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874500	33874500	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33874500C>T	ENST00000374408.3	-	4	2178	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	694										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTCAGTTCCCTGCCTGGCCC	0.602000													46	88					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310143	57310143	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57310143G>A	ENST00000457912.1	+	2	82	c.82G>A	c.(82-84)Gag>Aag	p.E28K	SMTNL1_ENST00000399154.2_Missense_Mutation_p.E10K|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E10K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	10										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAAGCTCTCTGAGGATGGGAC	0.587000													18	23					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173693	207173693	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207173693G>A	ENST00000374423.3	+	5	4827	c.4441G>A	c.(4441-4443)Gaa>Aaa	p.E1481K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1481							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						CCTTCAGAAGGAAGAGCATGT	0.378000													16	36					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335986	42335986	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:42335986G>A	ENST00000262418.6	-	10	1037	c.882C>T	c.(880-882)ttC>ttT	p.F294F	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	294					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCTATGCGGAACACCTAGG	0.652000													10	17					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308567	140308567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140308567G>A	ENST00000253807.2	+	1	2090	c.2090G>A	c.(2089-2091)gGg>gAg	p.G697E	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G697E|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATTTCTGGGGTGCTTACTT	0.478000													70	161					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917696	38917696	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38917696G>A	ENST00000274276.3	+	10	1736	c.1334G>A	c.(1333-1335)gGa>gAa	p.G445E		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	445	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGGAGCCAGGAAATCATACT	0.403000													33	263					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358892	72358892	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:72358892C>T	ENST00000441259.1	-	3	745	c.585G>A	c.(583-585)agG>agA	p.R195R	PRF1_ENST00000373209.2_Silent_p.R195R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	195	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCCCGAGGGCCCTCTTGAAGT	0.612000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				13	52					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18186106	18186106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18186106G>A	ENST00000321105.5	-	16	2141	c.1927C>T	c.(1927-1929)Cag>Tag	p.Q643*	TOP3A_ENST00000540524.1_Nonsense_Mutation_p.Q173*|TOP3A_ENST00000542570.1_Nonsense_Mutation_p.Q548*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	643					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTTCTTGCTGGGCCAACTCT	0.532000													7	207					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268065	103268065	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:103268065C>T	ENST00000217926.5	-	1	194	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	56					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TGCTCTGCTTCTGGGACGTAG	0.642000													27	12					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120313961	120313961	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:120313961G>A	ENST00000392521.2	-	2	67	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CIT_ENST00000261833.7_Silent_p.F4F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	4					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCATATTTGAACTTCAACA	0.522000													45	68					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45975083	45975083	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45975083G>A	ENST00000257821.4	-	10	1713	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	PHF21A_ENST00000418153.2_Missense_Mutation_p.P363S|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Missense_Mutation_p.P364S	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	363					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CCTACCTGAGGGTTCTCCTCC	0.488000													9	50					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850639	167850639	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167850639C>T	ENST00000265293.4	+	11	1878	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	WWC1_ENST00000521089.1_Missense_Mutation_p.S459L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	459					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.S459*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCTCCACTTCAGCCAGCTTC	0.627000													10	194					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220346385	220346385	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220346385G>A	ENST00000312358.7	+	28	5680	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1850	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAGACCCTAGAACATCCTTG	0.438000													26	53					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64824935	64824935	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64824935C>T	ENST00000358658.3	-	4	538	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	NAALADL1_ENST00000340252.4_Missense_Mutation_p.E171K|NAALADL1_ENST00000339885.2_Missense_Mutation_p.E171K|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E171K|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000355369.2_Missense_Mutation_p.E171K	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	171					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AAGTCTTCTTCCGCGCCCCGG	0.602000													24	65					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98779410	98779410	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98779410C>T	ENST00000477737.1	+	8	1289	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	VWA3B_ENST00000435344.1_Missense_Mutation_p.P362L|VWA3B_ENST00000451075.2_Missense_Mutation_p.P212L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	362										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCGAGCCTCCCAAGCCCGAC	0.567000													11	109					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847360	83847360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:83847360C>T	ENST00000349129.2	+	21	3859	c.3599C>T	c.(3598-3600)tCc>tTc	p.S1200F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1181F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1191F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATGACTCCATTCAACAG	0.418000													41	75					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770798	94770798	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94770798G>A	ENST00000341584.3	-	5	1321	c.1175C>T	c.(1174-1176)aCc>aTc	p.T392I		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	392					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCTGCTCCAGGTGAAGTGGTC	0.547000													31	62					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686260	5686260	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5686260G>A	ENST00000305836.5	-	8	1563	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.P421S|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000483835.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	421	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGAACAGAAGGAGTATGGAAG	0.393000													9	81					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	G	A	rs112238716		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000													95	214					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129221566	129221566	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129221566C>T	ENST00000296266.3	+	21	2733	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	IFT122_ENST00000440957.2_Silent_p.I587I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000347300.2_Silent_p.I737I|IFT122_ENST00000504021.1_Silent_p.I672I|IFT122_ENST00000349441.2_Silent_p.I685I|IFT122_ENST00000507564.1_Silent_p.I788I|IFT122_ENST00000431818.2_Silent_p.I646I|IFT122_ENST00000348417.2_Silent_p.I796I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	796					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGATCGACATCGCCCGCAAAC	0.597000													12	197					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543074	21543074	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21543074G>A	ENST00000298694.4	+	3	1312	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	ARHGEF40_ENST00000298693.3_Silent_p.G395G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	395	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCGAGGAGGGGACAGTGCCC	0.602000													52	116					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163262	247163262	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247163262G>A	ENST00000339986.7	-	2	265	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Silent_p.L40L	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	40	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGGAGATCAGGTTTCTGTAG	0.433000													23	95					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446110	169446110	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:169446110A>G	ENST00000256935.8	+	33	3459	c.3379A>G	c.(3379-3381)Aag>Gag	p.K1127E	DOCK2_ENST00000520908.1_Missense_Mutation_p.K619E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K188E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1127	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTTCAAAAAGGTAAAAAA	0.458000													5	214					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623454	623454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:623454C>T	ENST00000262109.7	-	4	975	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ERICH1_ENST00000522706.1_Missense_Mutation_p.D206N	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	300	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCGCTGGCGTCCGCACCGTCC	0.622000													97	172					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39504831	39504831	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39504831C>T	ENST00000007735.3	-	3	536	c.492G>A	c.(490-492)agG>agA	p.R164R		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	164	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CATCCAGGATCCTGCGCAGGC	0.602000													68	136					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688398	107688398	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107688398G>A	ENST00000388781.3	-	28	4364	c.4281C>T	c.(4279-4281)tcC>tcT	p.S1427S	LAMB4_ENST00000388780.3_Silent_p.S1427S|LAMB4_ENST00000205386.4_Silent_p.S1427S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1427	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TACGAATAATGGATTTTGCTT	0.473000													40	162					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138642882	138642882	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138642882C>T	ENST00000298480.5	+	4	503	c.429C>T	c.(427-429)atC>atT	p.I143I	KCNT1_ENST00000371757.2_Silent_p.I143I|KCNT1_ENST00000263604.3_Silent_p.I124I|KCNT1_ENST00000486577.2_Silent_p.I104I|KCNT1_ENST00000488444.2_Silent_p.I124I|KCNT1_ENST00000487664.1_Silent_p.I95I|KCNT1_ENST00000490355.2_Silent_p.I124I|KCNT1_ENST00000491806.2_Silent_p.I110I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	143						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCCTGGGCATCGGATGGTGGG	0.687000													37	72					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100865834	100865834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100865834C>T	ENST00000358544.2	+	56	10403	c.10292C>T	c.(10291-10293)cCt>cTt	p.P3431L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3406L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3431					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGTCCCCTCCCTGGGGAAGAG	0.522000													20	86					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926626	52926626	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:52926626C>T	ENST00000295213.4	+	2	503	c.129C>T	c.(127-129)ctC>ctT	p.L43L	SPATA18_ENST00000419395.2_Silent_p.L43L|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	43					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCTTGAACTCATTGAGCAAG	0.478000													19	43					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359999	40359999	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40359999C>T	ENST00000338305.6	-	3	2595	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	685						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)					GCCGACGTCCCAGCCCCTCTC	0.711000													12	20					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200272	155200272	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155200272C>T	ENST00000460012.1	-	23	3810	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.E1151E|PLCH1_ENST00000340059.7_Silent_p.E1189E|PLCH1_ENST00000334686.6_Silent_p.E1151E|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1189					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCGGCTCATTCTCATTTGTTA	0.433000													42	59					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11797432	11797432	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:11797432C>T	ENST00000379215.4	+	4	627	c.416C>T	c.(415-417)cCc>cTc	p.P139L	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	139						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CGGAACCACCCCGTTCCCGTC	0.552000													21	52					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967331	2967331	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:2967331C>T	ENST00000397461.1	+	12	1610	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	CNTN4_ENST00000418658.1_Missense_Mutation_p.S409L|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.S190L|CNTN4_ENST00000448906.2_Missense_Mutation_p.S81L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S409L|CNTN4_ENST00000397459.2_Missense_Mutation_p.S81L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	409	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAGATTTTTCAAGAACACTC	0.368000													60	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611541	179611541	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179611541C>T	ENST00000360870.5	-	46	15808	c.15586G>A	c.(15586-15588)Gaa>Aaa	p.E5196K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8715	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTGTTTTCATATACCTTC	0.393000													58	124					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846738	123846738	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123846738G>A	ENST00000369005.1	+	4	5063	c.4723G>A	c.(4723-4725)Gct>Act	p.A1575T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1575T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1575T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1575T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1575T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1575						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGAGAGCTGCTGCCTTCCA	0.577000													4	83					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4791007	4791007	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4791007G>A	ENST00000380383.1	-	1	161	c.162C>T	c.(160-162)atC>atT	p.I54I	OR51F1_ENST00000343430.3_Silent_p.I47I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	47						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGACAAACAGGATCACGCTGT	0.473000													17	19					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516831	12516831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:12516831C>T	ENST00000380682.1	+	2	580	c.74C>T	c.(73-75)cCc>cTc	p.P25L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	25					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGCCGCCTCCCTCGGGAACC	0.512000													5	97					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813270	24813270	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24813270C>T	ENST00000376451.2	+	8	1784	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	KIAA1217_ENST00000307544.6_Silent_p.L508L|KIAA1217_ENST00000396446.1_Silent_p.L508L|KIAA1217_ENST00000376452.3_Silent_p.L790L|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Silent_p.L508L|KIAA1217_ENST00000376462.1_Silent_p.L745L|KIAA1217_ENST00000458595.1_Silent_p.L790L|KIAA1217_ENST00000376454.3_Silent_p.L825L			Q5T5P2	SKT_HUMAN	KIAA1217	825				R -> H (in Ref. 1; BX648451).	embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGATGGGCTCCTGAAAGGCA	0.542000													44	97					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168187868	168187868	+	Splice_Site	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:168187868T>A	ENST00000519560.1	-	16	2103	c.1685_splice	c.e16+1	p.I562_splice	SLIT3_ENST00000332966.8_Splice_Site_p.I562_splice|SLIT3_ENST00000404867.3_Splice_Site_p.I562_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	562					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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			TTGACTTACATTTTCCGCAGG	0.532000													30	53					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33443864	33443864	+	Silent	SNP	C	C	T	rs59981139		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33443864C>T	ENST00000297991.4	-	2	215	c.135G>A	c.(133-135)caG>caA	p.Q45Q	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	45					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		TGAGCACAACCTGGGCCACGG	0.602000													13	31					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2952939	2952939	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2952939A>G	ENST00000396946.4	-	22	3404	c.3001T>C	c.(3001-3003)Ttc>Ctc	p.F1001L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1001	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGATGGTGAACTCCATGGCA	0.667000			Mis		DLBCL								47	121					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91851246	91851246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:91851246G>A	ENST00000370425.3	-	5	738	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	214							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q214*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGAATACTGAAATTTTTGC	0.358000													22	51					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11034876	11034876	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11034876C>T	ENST00000428168.2	-	4	496	c.459G>A	c.(457-459)ggG>ggA	p.G153G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GTGGGCGGCCCCCTTGGGGAG	0.587000													6	163					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417281	120417281	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120417281C>T	ENST00000273375.3	-	5	552	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.E175K	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	175	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AAATTAATTTCTTCTGGATTG	0.338000													78	204					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96131399	96131399	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:96131399G>A	ENST00000467865.1	+	0	1807				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GCCCCTGGATGGATGCATGGG	0.557000			T	TRA@	T-ALL								3	22					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171614	106171614	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:106171614G>A	ENST00000541806.1	+	2	675	c.156G>A	c.(154-156)atG>atA	p.M52I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M52I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M52I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	52					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCTCTGGATGGAATGTGCCA	0.572000													51	34					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740727	30740727	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30740727C>T	ENST00000262518.4	+	27	6346	c.5961C>T	c.(5959-5961)ccC>ccT	p.P1987P	SRCAP_ENST00000344771.4_Silent_p.P1829P|SRCAP_ENST00000395059.2_Silent_p.P1925P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1987					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCTCCCCCTTCCCTGC	0.587000													7	66					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96264355	96264355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:96264355C>T	ENST00000347108.3	-	9	1682	c.1250G>A	c.(1249-1251)aGg>aAg	p.R417K	DZIP1_ENST00000361396.2_Missense_Mutation_p.R417K|DZIP1_ENST00000361156.3_Missense_Mutation_p.R417K|DZIP1_ENST00000376829.2_Missense_Mutation_p.R417K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	417					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ctcttctatccttttcttata	0.418000													44	31					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105891225	105891225	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105891225C>T	ENST00000357060.3	-	37	4810	c.4695G>A	c.(4693-4695)gtG>gtA	p.V1565V	WDR96_ENST00000428666.1_Silent_p.V1537V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1565										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						TGCAGTTTTCCACATTCTTTT	0.308000													20	61					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724803	158724803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158724803C>T	ENST00000368144.2	+	1	294	c.198C>T	c.(196-198)atC>atT	p.I66I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACGGATTTATCCTAACTGGAA	0.458000													63	191					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264765	25264765	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25264765G>A	ENST00000218548.6	+	7	1038	c.705G>A	c.(703-705)ggG>ggA	p.G235G	ATP12A_ENST00000381946.3_Silent_p.G235G	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	235					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTCTCACGGGGGAGTCTGAGC	0.502000													23	211					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95399295	95399295	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:95399295G>A	ENST00000336148.5	-	11	2026	c.1902C>T	c.(1900-1902)ctC>ctT	p.L634L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CAGTAAACAGGAGAGGGTTGT	0.393000								Direct reversal of damage;Homologous recombination					31	58					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144345904	144345904	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:144345904G>A	ENST00000360057.3	-	5	356	c.254C>T	c.(253-255)aCt>aTt	p.T85I	TPK1_ENST00000378099.3_Missense_Mutation_p.T85I|TPK1_ENST00000538212.2_Missense_Mutation_p.T80I|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	85					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTTACCTTAGTAGCATAGTA	0.318000													50	177					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605195	195605195	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195605195G>A	ENST00000333602.6	-	9	1802	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	TNK2_ENST00000392400.1_Silent_p.A395A|TNK2_ENST00000428187.1_Silent_p.A427A|TNK2_ENST00000316664.3_Silent_p.A395A|TNK2_ENST00000381916.2_Silent_p.A458A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	395	SH3.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGTCCTGAAGGGCCCGCATGT	0.617000													81	164					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002595	6002595	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6002595G>A	ENST00000244766.2	-	2	408	c.191C>T	c.(190-192)aCc>aTc	p.T64I	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	64						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGTGCACACGGTCTTGATGTT	0.617000													56	197					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211486799	211486799	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:211486799C>T	ENST00000367005.4	+	11	1318	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.P451S|RCOR3_ENST00000367006.4_Missense_Mutation_p.S370F	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	393	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACACTGGGTCCATCACCTCC	0.512000													80	89					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898730	2898730	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:2898730G>A	ENST00000254695.8	+	13	1104	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	RAP1GAP2_ENST00000542807.1_Silent_p.K338K|RAP1GAP2_ENST00000366401.4_Silent_p.K323K|RAP1GAP2_ENST00000540393.2_Silent_p.K319K	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	338	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						TTTCCACAAAGCTGCCATTTA	0.602000													40	95					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438015	125438015	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125438015G>A	ENST00000304820.2	+	1	701	c.607G>A	c.(607-609)Ggg>Agg	p.G203R		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	203					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						CATGACAGAAGGGCTGGCCTC	0.428000													77	163					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411105	43411105	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43411105G>A	ENST00000310826.5	-	3	3283	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F	ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1034F|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1034F|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L833F	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ATTGCTGAAAGGGGTGGGGCA	0.458000													41	83					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018301	110018301	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110018301C>T	ENST00000369872.3	+	3	444	c.228C>T	c.(226-228)atC>atT	p.I76I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I76I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	76	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGAGCTCCATCATCGTTGCAT	0.537000													32	49					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179193096	179193096	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179193096C>A	ENST00000190611.4	+	5	685	c.309C>A	c.(307-309)ggC>ggA	p.G103G	OSBPL6_ENST00000409045.3_Silent_p.G103G|OSBPL6_ENST00000409631.1_Silent_p.G103G|OSBPL6_ENST00000315022.2_Silent_p.G82G|OSBPL6_ENST00000359685.3_Silent_p.G103G|OSBPL6_ENST00000357080.4_Silent_p.G103G|OSBPL6_ENST00000392505.2_Silent_p.G103G|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	103	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTTAAAAGGCTGGCACAAGG	0.378000													30	75					1.06801e-11	1.07532e-11	1	1	0
MIR519D	574480	broad.mit.edu	37	19	54216623	54216623	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54216623G>A	ENST00000385246.1	+	0	23					NR_030202.1																						ACCCTCCAAAGGGAAGCGCTT	0.433000													7	221					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790617	38790617	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38790617C>T	ENST00000359357.3	+	25	3130	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F	DNAH8_ENST00000441566.1_Missense_Mutation_p.S959F|DNAH8_ENST00000449981.2_Missense_Mutation_p.S1176F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTCAGGATCTTTTGAAGAA	0.338000													7	44					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18443868	18443868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18443868C>T	ENST00000433979.1	+	4	957	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.Q281*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q281*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q281*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	281					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)				ATTTCCGTATCAGCTCTTTTC	0.333000													5	19					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35748101	35748101	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35748101C>T	ENST00000400441.3	-	18	2369	c.2370_splice	c.e18+1	p.M790_splice	MROH8_ENST00000217333.8_Splice_Site_p.M619_splice|MROH8_ENST00000441008.2_Splice_Site_p.M776_splice					maestro heat-like repeat family member 8																		CCCCTCCTACCATCTCCTGGT	0.428000													4	54					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114000282	114000282	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:114000282G>A	ENST00000429538.3	-	5	657	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P155S|PAX8_ENST00000348715.5_Missense_Mutation_p.P155S|PAX8_ENST00000263334.5_Missense_Mutation_p.P155S|PAX8_ENST00000263335.7_Missense_Mutation_p.P155S|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	155					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGTGTCCGGGACTCAGGGAC	0.532000			T	PPARG	follicular thyroid		Thyroid dysgenesis						52	112					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1684625	1684625	+	Silent	SNP	G	G	A	rs139157614		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1684625G>A	ENST00000305513.7	-	11	2537	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	790							zinc ion binding	p.S790S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCAACAAACAGGATTTCATCT	0.517000													51	61					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542779	21542779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21542779C>T	ENST00000298694.4	+	3	1017	c.890C>T	c.(889-891)cCt>cTt	p.P297L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P297L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	297	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCCTGGGGCCTCGGGGCCAG	0.726000													7	11					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45820437	45820437	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45820437G>A	ENST00000177694.1	+	3	858	c.646_splice	c.e3-1	p.G216_splice		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	216					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTGTCCACAGGAAACCGCCTG	0.572000													10	155					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23722238	23722238	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23722238C>T	ENST00000256797.4	-	2	507	c.339G>A	c.(337-339)agG>agA	p.R113R	ERN2_ENST00000457008.2_Silent_p.R65R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	65					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTCACCATCCCTCAGAGTCC	0.532000													38	68					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130683792	130683792	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130683792G>A	ENST00000510168.1	+	14	1575	c.1024_splice	c.e14-1	p.G342_splice	ATP2C1_ENST00000422190.2_Splice_Site_p.G342_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.G326_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.G337_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.G342_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.G342_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.G287_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.G342_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.G376_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.G342_splice			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	342					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATTCTTTAGGCTGCTGTAAT	0.348000									Hailey-Hailey disease				23	45					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396306	38396306	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:38396306C>T	ENST00000377698.3	+	2	714	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	187					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CGTGGAACTTCCCCTTGGTCA	0.582000													57	146					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232321806	232321806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:232321806G>A	ENST00000322723.4	-	10	1717	c.1477C>T	c.(1477-1479)Ctc>Ttc	p.L493F		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	493	RRM 3.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTGTAGGAGAGGTTGCTTAAA	0.398000													27	80					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307504	56307504	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56307504C>T	ENST00000443188.1	-	8	2994	c.2284G>A	c.(2284-2286)Ggg>Agg	p.G762R	NLRP11_ENST00000592953.1_Missense_Mutation_p.G663R|NLRP11_ENST00000589824.2_Missense_Mutation_p.G708R|NLRP11_ENST00000589093.1_Missense_Mutation_p.G762R|NLRP11_ENST00000360133.3_Missense_Mutation_p.G708R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	762							ATP binding	p.G762W(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGTTCATCCCGTCGCTCCTC	0.502000													115	210					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408987	39408987	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:39408987G>A	ENST00000257408.4	+	1	515	c.418G>A	c.(418-420)Gcc>Acc	p.A140T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	140	Glycosyl hydrolase-1 1.				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						AGACTTATCAGCCCTGGATTT	0.393000													69	163					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089398	43089398	+	Missense_Mutation	SNP	C	C	T	rs28940572		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43089398C>T	ENST00000401850.1	-	2	1049	c.560G>A	c.(559-561)gGc>gAc	p.G187D	A4GALT_ENST00000249005.2_Missense_Mutation_p.G187D|A4GALT_ENST00000381278.3_Missense_Mutation_p.G187D			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	187			G -> D (in p individuals; partial loss of activity; dbSNP:rs28940572).		glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTAGATGCCGCCGAACTTCCA	0.652000													45	63					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243531	56243531	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56243531C>T	ENST00000332836.2	-	2	1693	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	556						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTACAAATTCTTTTTCCTGA	0.338000													20	61					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49294221	49294221	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49294221G>A	ENST00000438782.1	+	8	1527	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CCDC36_ENST00000296449.5_Missense_Mutation_p.D431N|CCDC36_ENST00000452691.2_Missense_Mutation_p.D431N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	431										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TAAACAGAAAGATGGGACTGT	0.458000													69	119					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55054291	55054291	+	Splice_Site	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:55054291C>A	ENST00000396198.3	-	2	36		c.e2-1		ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATGTGGGCCCTGAAATTGGA	0.453000													14	17					2.61681e-11	2.63403e-11	1	1	0
GLT1D1	144423	broad.mit.edu	37	12	129429892	129429892	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:129429892G>A	ENST00000442111.2	+	9	725	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	GLT1D1_ENST00000542193.1_Missense_Mutation_p.E130K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E218K|GLT1D1_ENST00000281703.6_Missense_Mutation_p.E133K			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	213					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTTTACAAGGGAAGTGAAAGC	0.532000													24	56					0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97751879	97751879	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97751879G>A	ENST00000414820.1	-	5	789	c.519C>T	c.(517-519)atC>atT	p.I173I	FAHD2B_ENST00000440566.2_Silent_p.I173I|FAHD2B_ENST00000272610.3_Silent_p.I173I			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	173							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCTCACCTTGATGTGCTTGC	0.602000													12	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087201	9087201	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9087201G>A	ENST00000397910.4	-	1	4817	c.4614C>T	c.(4612-4614)acC>acT	p.T1538T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1538	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						TTGTCAGTGGGGTGATAGGAA	0.478000													84	175					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132446046	132446046	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:132446046C>T	ENST00000333577.4	+	2	991	c.882C>T	c.(880-882)ttC>ttT	p.F294F	EP400_ENST00000389562.2_Silent_p.F294F|EP400_ENST00000389561.2_Silent_p.F294F|EP400_ENST00000330386.6_Silent_p.F294F|EP400_ENST00000332482.4_Silent_p.F294F			Q96L91	EP400_HUMAN	E1A binding protein p400	294					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTGGGCTTCGAGAGGACAC	0.721000													5	14					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785653	39785653	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:39785653C>T	ENST00000518237.1	+	10	1800	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.F387F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	387					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TAATGAATTTCCTGAAGACTG	0.418000													15	18					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159825	73159825	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73159825T>C	ENST00000541685.1	-	7	713	c.701A>G	c.(700-702)gAg>gGg	p.E234G	DPF3_ENST00000556509.1_Missense_Mutation_p.E234G|DPF3_ENST00000546183.1_Missense_Mutation_p.E244G|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	234					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGACCGAGTCTCCTGGTCTTG	0.582000													6	200					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188928	98188928	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98188928G>A	ENST00000332650.5	+	1	605	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTTTCTGTGGATCGAATCA	0.403000													119	197					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104984	168104984	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168104984C>T	ENST00000409195.1	+	9	7171	c.7082C>T	c.(7081-7083)tCg>tTg	p.S2361L	XIRP2_ENST00000295237.9_Missense_Mutation_p.S2361L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2139L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2186					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGTTCATCGATGTTTCTG	0.483000													16	172					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035205	184035205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184035205C>T	ENST00000342981.4	+	4	658	c.244C>T	c.(244-246)Cct>Tct	p.P82S	EIF4G1_ENST00000352767.3_Missense_Mutation_p.P89S|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000427845.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P82S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P42S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P42S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P82S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P89S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P89S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	82					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCATGTCTACCCTGCTGGATC	0.652000													62	146					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135545422	135545422	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135545422C>T	ENST00000372159.3	-	1	366	c.215G>A	c.(214-216)aGg>aAg	p.R72K	DDX31_ENST00000372153.1_Missense_Mutation_p.R72K|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.R72K|GTF3C4_ENST00000483873.2_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	72						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCACCGCCCCTTCCGGGTCC	0.756000													10	6					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370335	240370335	+	Silent	SNP	G	G	A	rs144753167		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240370335G>A	ENST00000319653.9	+	5	2453	c.2223G>A	c.(2221-2223)gcG>gcA	p.A741A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	741					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTAGAGGCGAAATCGATAC	0.562000													23	61					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107160930	107160930	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107160930G>A	ENST00000262843.6	+	7	1944	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	466	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAAATGTAAGGAAGCAGTAAG	0.468000													88	30					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104497	40104497	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40104497C>T	ENST00000261435.6	+	4	1448	c.1032C>T	c.(1030-1032)tgC>tgT	p.C344C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	344	Pro-rich.					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						TGAGTTACTGCCCGGTACTTG	0.512000													30	74					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89927093	89927093	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:89927093G>A	ENST00000389297.4	+	16	2057	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	C7orf63_ENST00000316089.8_Silent_p.E602E|C7orf63_ENST00000497910.1_Silent_p.E584E	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	602							binding	p.E602D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATCCCTCAGAGGATTATTTTC	0.289000													61	229					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35437003	35437003	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35437003G>A	ENST00000237536.4	-	8	3068	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	SOGA1_ENST00000357779.3_Silent_p.F671F|SOGA1_ENST00000279034.5_Silent_p.F671F|SOGA1_ENST00000456801.2_Silent_p.F512F	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	671										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGAGCAGCAGGAAGTTGTGCT	0.572000											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	26					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517123	158517123	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158517123G>A	ENST00000302617.3	-	1	772	c.773C>T	c.(772-774)tCc>tTc	p.S258F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGTGTCATGGAATAGAAGAG	0.498000													40	178					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681054	44681054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44681054C>T	ENST00000590089.1	+	7	2006	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*	ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q547*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q547*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TTCGTATCTTCAAATCCATCA	0.443000													66	164					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677687	169677687	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169677687C>T	ENST00000236147.4	-	3	542	c.382G>A	c.(382-384)Gga>Aga	p.G128R	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	115	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TCACCATCTCCCCAGTTCTCT	0.468000													23	67					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159841	14159841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14159841C>T	ENST00000263379.2	+	9	1315	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	397	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						ACCGCAGTCTCTGCTTCAGGC	0.552000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	167					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664996	6664996	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6664996C>T	ENST00000326176.9	-	5	937	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TNFSF14_ENST00000599359.1_Missense_Mutation_p.E222K|TNFSF14_ENST00000245912.3_Missense_Mutation_p.E186K	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	222					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	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						ACCAGGCGTTCATCCAGCACA	0.617000													75	137					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11786953	11786953	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11786953G>A	ENST00000262442.3	+	56	10925	c.10857G>A	c.(10855-10857)ttG>ttA	p.L3619L	DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Silent_p.L3619L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3619	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAACGTTGGAAGACAGTC	0.512000													43	76					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48626879	48626879	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:48626879T>A	ENST00000435803.1	+	57	14659	c.14635T>A	c.(14635-14637)Tta>Ata	p.L4879I	ABCA13_ENST00000544596.1_Missense_Mutation_p.L609I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4879	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGACATTCTTTTATTGGTGAG	0.448000													4	11					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129724579	129724579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:129724579G>A	ENST00000259351.5	+	2	278	c.11G>A	c.(10-12)aGg>aAg	p.R4K	RALGPS1_ENST00000394011.3_Missense_Mutation_p.R4K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.R4K|RALGPS1_ENST00000394022.3_Missense_Mutation_p.R4K|RALGPS1_ENST00000373436.1_Missense_Mutation_p.R4K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.R4K|RALGPS1_ENST00000480993.1_3'UTR	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	4					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ATGTACAAGAGGAATGGTCTG	0.537000													25	45					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28283875	28283875	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:28283875G>A	ENST00000305242.5	-	2	289	c.197C>T	c.(196-198)tCa>tTa	p.S66L		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	66							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAAATGCTGAGGGCGCCAA	0.368000													24	48					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757972	757972	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:757972G>A	ENST00000215582.6	+	2	1129	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCCCACGGCGGGAGAGAGGGC	0.682000													21	27					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851212	44851212	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:44851212G>T	ENST00000225512.5	-	2	306	c.144C>A	c.(142-144)atC>atA	p.I48I		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	48					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CCAGGCCTGGGATGGAGCCGC	0.637000													12	38					1.61879e-10	1.62875e-10	1	1	0
HCAR1	27198	broad.mit.edu	37	12	123214860	123214860	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123214860G>A	ENST00000432564.1	-	1	269	c.27C>T	c.(25-27)atC>atT	p.I9I	HCAR1_ENST00000436083.2_Silent_p.I9I|HCAR1_ENST00000356987.2_Silent_p.I9I	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	9					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TGTCCCCCTCGATGCGGCAGC	0.622000													15	33					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031904	33031904	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:33031904C>T	ENST00000340811.4	-	2	394	c.286G>A	c.(286-288)Gat>Aat	p.D96N	PKP2_ENST00000070846.6_Missense_Mutation_p.D96N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	96					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAACAAAATCATTTTCAACC	0.378000													33	124					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176520	57176520	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57176520C>T	ENST00000537055.2	-	2	278	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTTCCAGTTTCCTTCCAACTC	0.587000													41	61					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588578	247588578	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247588578G>C	ENST00000366497.2	+	4	2613	c.1833G>C	c.(1831-1833)tgG>tgC	p.W611C	NLRP3_ENST00000391827.2_Missense_Mutation_p.W611C|NLRP3_ENST00000366496.2_Missense_Mutation_p.W611C|NLRP3_ENST00000336119.3_Missense_Mutation_p.W611C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.W611C|NLRP3_ENST00000391828.3_Missense_Mutation_p.W611C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	611					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTGAAATGGATTGAAGTGA	0.473000													4	116					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603874	111603874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111603874C>T	ENST00000431670.2	+	2	1361	c.950C>T	c.(949-951)tCt>tTt	p.S317F	PHLDB2_ENST00000393923.3_Missense_Mutation_p.S344F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S317F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S317F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	317						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TATAAAACCTCTGCTTCTGAA	0.468000													37	53					0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118849804	118849804	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:118849804G>A	ENST00000317011.3	+	3	499	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	92					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		ACCCCAGAAGGAGGAAGATGC	0.607000													60	82					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753920	48753920	+	Missense_Mutation	SNP	C	C	T	rs140501798		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48753920C>T	ENST00000285238.8	+	23	3429	c.3349C>T	c.(3349-3351)Ccc>Tcc	p.P1117S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1117	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTCATCCTGCCCCTGGCTGT	0.607000													43	93					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896132	153896132	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:153896132G>A	ENST00000511601.1	+	12	1877	c.1689G>A	c.(1687-1689)gaG>gaA	p.E563E	FHDC1_ENST00000260008.3_Silent_p.E563E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	563					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCAGCCCTGAGGAGCCCAATA	0.697000													28	55					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996618	143996618	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143996618C>T	ENST00000323110.2	-	3	441	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	147					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GACAGCACATCTGGGTTCAGC	0.627000									Familial Hyperaldosteronism type I				5	58					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969901	241969901	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241969901C>T	ENST00000310397.8	+	2	414	c.414C>T	c.(412-414)ttC>ttT	p.F138F	SNED1_ENST00000342631.6_Silent_p.F138F|SNED1_ENST00000401884.1_Silent_p.F138F|SNED1_ENST00000405547.3_Silent_p.F138F|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	138	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGCACTACTTCCCCGAGCTCC	0.622000													14	29					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641404	99641404	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:99641404T>C	ENST00000345514.2	-	3	1822	c.1556A>G	c.(1555-1557)gAg>gGg	p.E519G	BCL11B_ENST00000443726.2_Missense_Mutation_p.E396G|BCL11B_ENST00000357195.3_Missense_Mutation_p.E590G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	590						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGCGCCTTCTCGTCAGCCAG	0.726000			T	TLX3	T-ALL								13	61					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26441360	26441360	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:26441360C>T	ENST00000311151.5	+	3	586	c.174C>T	c.(172-174)atC>atT	p.I58I	DPYSL2_ENST00000523027.1_Silent_p.I22I|DPYSL2_ENST00000521913.1_Silent_p.I22I	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	58					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGAAGACCATCGAGGCCCACT	0.483000													36	76					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994500	8994500	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8994500T>C	ENST00000397910.4	-	64	41595	c.41392A>G	c.(41392-41394)Acc>Gcc	p.T13798A	MUC16_ENST00000380951.5_Missense_Mutation_p.T439A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13800	SEA 12.			Missing (in Ref. 3; AAK74120).	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						TTAGTGATGGTGAAGTTGAGG	0.488000													40	86					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703473	30703473	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:30703473C>T	ENST00000256246.2	-	1	3135	c.3061G>A	c.(3061-3063)Gta>Ata	p.V1021I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1021										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTTCTCCTACTTTAGTTATA	0.343000													62	163					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661832	44661832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44661832C>T	ENST00000426739.2	+	6	1921	c.1663C>T	c.(1663-1665)Ctt>Ttt	p.L555F	ZNF234_ENST00000592437.1_Missense_Mutation_p.L555F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGTGCACACCTTCAAGCCCA	0.483000													49	99					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632901	169632901	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:169632901A>G	ENST00000366787.3	-	13	2039	c.1790T>C	c.(1789-1791)gTc>gCc	p.V597A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	597	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GATGTCGGGGACCAGGGCACA	0.672000													23	44					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193185	132193185	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:132193185C>T	ENST00000359827.3	-	2	1230	c.268G>A	c.(268-270)Gag>Aag	p.E90K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E90K|PLXNA4_ENST00000378539.5_Missense_Mutation_p.E90K|PLXNA4_ENST00000423507.2_Missense_Mutation_p.E90K			Q9HCM2	PLXA4_HUMAN	plexin A4	90	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGTTGTCCTCGTCCGGCCCT	0.547000													47	94					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907026	23907026	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:23907026G>A	ENST00000382298.3	-	10	11577	c.10989C>T	c.(10987-10989)ttC>ttT	p.F3663F	SACS_ENST00000402364.1_Silent_p.F2913F|SACS_ENST00000382292.3_Silent_p.F3663F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3663					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAATCTAATGAATTCCGCGG	0.363000													35	65					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48990548	48990548	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48990548C>T	ENST00000226432.4	+	2	281	c.98C>T	c.(97-99)cCt>cTt	p.P33L	CWH43_ENST00000513409.1_Missense_Mutation_p.P6L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	33					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATTACTTTCCTTTGCAAACA	0.353000													17	72					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574595	169574595	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:169574595C>T	ENST00000316428.5	-	4	610	c.553G>A	c.(553-555)Gga>Aga	p.G185R	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.G129R|LRRC31_ENST00000523069.1_Missense_Mutation_p.G185R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	185										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GGCAAATTTCCTCCCACTTTA	0.418000													42	89					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901490	102901490	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102901490C>T	ENST00000359520.7	+	9	2562	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	TECPR2_ENST00000558678.1_Missense_Mutation_p.S779F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	779							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTAGTTGCTCCCAGCAGGAC	0.582000													54	96					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196309646	196309646	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196309646C>T	ENST00000367433.5	-	16	1709	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L536L|KCNT2_ENST00000451324.2_Silent_p.L147L|KCNT2_ENST00000367431.4_Silent_p.L486L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	536	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GACCTGGATTCAGCAAAATGT	0.308000													49	69					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360608	118360608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:118360608C>T	ENST00000528052.1	+	10	1029	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.Q320*|PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.Q320*			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	320					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGTCCAGATCAAGGATGCCC	0.448000													48	106					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102584701	102584701	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102584701G>A	ENST00000370296.2	+	10	1683	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	PAX2_ENST00000361791.3_Missense_Mutation_p.G355E|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000428433.1_Intron|PAX2_ENST00000355243.3_Intron			Q02962	PAX2_HUMAN	paired box 2	0					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCAAGCCGGGGAGGAAGCTT	0.602000													9	121					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152427050	152427050	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152427050G>A	ENST00000397345.3	-	108	17281	c.17079C>T	c.(17077-17079)ccC>ccT	p.P5693P	NEB_ENST00000604864.1_Silent_p.P5693P|NEB_ENST00000603639.1_Silent_p.P5693P|NEB_ENST00000172853.10_Silent_p.P3992P|NEB_ENST00000427231.2_Silent_p.P5693P|NEB_ENST00000409198.1_Silent_p.P3992P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5710					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCCTGGATGGGGATGGCAT	0.488000													7	20					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919464	21919464	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21919464G>A	ENST00000240662.2	-	3	813	c.468C>T	c.(466-468)atC>atT	p.I156I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	156						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCAAAACCGTGATGGCCAAAG	0.443000													26	52					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054711	29054711	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29054711C>T	ENST00000377173.2	-	1	379	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CACCTAGGGCCAGGAAGATGA	0.458000													28	118					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117892041	117892041	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:117892041A>G	ENST00000371666.3	+	5	579	c.512A>G	c.(511-513)cAt>cGt	p.H171R	IL13RA1_ENST00000371642.1_Missense_Mutation_p.H171R|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	171						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GAAAAAATTCATCAATGTGAA	0.383000													8	78					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169985261	169985261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:169985261G>A	ENST00000263816.3	-	79	14165	c.13880C>T	c.(13879-13881)tCg>tTg	p.S4627L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4627					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCTCTTCTCGAAGGAGGCTT	0.448000													45	157					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028458	142028458	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142028458G>A	ENST00000390353.2	+	0	249																											GACTGAGGCTGATTTATTACT	0.498000													15	380					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963116	96963116	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96963116G>A	ENST00000323853.5	-	11	1439	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	SNRNP200_ENST00000349783.5_Silent_p.P454P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	454						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGAGCCAAAGGGCTTGGGCT	0.478000													17	46					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201801	248201801	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248201801C>T	ENST00000366479.2	+	1	328	c.232C>T	c.(232-234)Cca>Tca	p.P78S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACCATTGTTCCAAAGAtggt	0.398000													201	206					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026709	6026709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:6026709G>A	ENST00000265849.7	-	11	1792	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Nonsense_Mutation_p.R457*|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	563					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.R563*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGCAAAACTCGAAATTTACAT	0.408000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	326					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418616	55418616	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55418616G>A	ENST00000312422.2	+	1	237	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M79I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTCCCAAGATGATTGTTGACC	0.428000													85	207					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119001503	119001503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119001503C>T	ENST00000350777.2	+	3	313	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.R84C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	84					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGACCTCATCCGCCATGTCTA	0.527000													13	153					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456121	76456121	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:76456121G>A	ENST00000396423.2	+	2	288	c.164G>A	c.(163-165)aGa>aAa	p.R55K	HNF4G_ENST00000354370.1_Missense_Mutation_p.R18K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	18					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTGGGGACAGAGCAACAGGA	0.453000													33	61					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18562715	18562715	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18562715C>T	ENST00000329627.6	+	3	512	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PEX26_ENST00000428061.2_Silent_p.V102V|PEX26_ENST00000399744.3_Silent_p.V102V	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	102					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGCAAGAAGTCCTCTCCTGGG	0.517000													35	69					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960772	45960772	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:45960772C>T	ENST00000348697.2	+	15	1853	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Missense_Mutation_p.S569F			P23142	FBLN1_HUMAN	fibulin 1	569	EGF-like 9; calcium-binding.				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)		AGGCAGAAATCCAAGAAGGGA	0.522000													25	51					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69783232	69783232	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:69783232G>A	ENST00000268802.5	-	5	438	c.409C>T	c.(409-411)Cca>Tca	p.P137S		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	137						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTTTCTTGTGGGGGTTTAGGC	0.393000													32	44					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													24	68					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472040	81472040	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81472040G>A	ENST00000548058.1	+	1	1051	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ACSS3_ENST00000261206.3_Silent_p.G47G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	47						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCGGTCTCGGGGGCCGGGGAT	0.736000													15	17					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339282	102339282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:102339282C>T	ENST00000395065.3	-	3	440	c.339G>A	c.(337-339)tgG>tgA	p.W113*	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Nonsense_Mutation_p.W24*	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	113	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGATCTTGAACCAGCTCCCTA	0.463000													80	33					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120811113	120811113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120811113G>A	ENST00000527524.2	+	14	1821	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	GRIK4_ENST00000438375.2_Missense_Mutation_p.D512N			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	512					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAAGGTGATTGATTTCTCTAA	0.428000													22	32					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761346	96761346	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:96761346G>A	ENST00000295266.4	+	1	108	c.45G>A	c.(43-45)caG>caA	p.Q15Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	15					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAGTTGCCCAGAAATCAGCTC	0.542000													18	42					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182591671	182591671	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:182591671G>A	ENST00000323116.5	+	19	2380	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	707					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GTACTTACTGGGGATAAACAT	0.363000													5	106					0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75443022	75443022	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:75443022C>T	ENST00000416943.1	-	2	105	c.12G>A	c.(10-12)ctG>ctA	p.L4L	CCL24_ENST00000222902.2_Silent_p.L4L	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	4					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTATGGTCATCAGGCCTGCCA	0.557000													6	174					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038321	62038321	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62038321G>A	ENST00000354587.3	-	17	2495	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	KCNQ2_ENST00000370226.1_Silent_p.F735F|KCNQ2_ENST00000359125.2_Silent_p.F765F|KCNQ2_ENST00000360480.3_Silent_p.F737F|KCNQ2_ENST00000357249.2_Silent_p.F747F|KCNQ2_ENST00000344462.3_Silent_p.F761F|KCNQ2_ENST00000430658.1_Silent_p.F734F|KCNQ2_ENST00000359689.1_Silent_p.F765F|KCNQ2_ENST00000370224.1_Silent_p.F773F			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	765					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTGCCGCAGGAACTCCATGC	0.741000													6	6					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139353607	139353607	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139353607G>A	ENST00000313050.7	-	15	5461	c.5388C>T	c.(5386-5388)acC>acT	p.T1796T	SEC16A_ENST00000290037.6_Silent_p.T1618T|SEC16A_ENST00000431893.2_Silent_p.T1618T|SEC16A_ENST00000371706.3_Silent_p.T1618T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1618	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCAGGGGGCAGGTCTCGGCAC	0.542000													11	96					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837997	92837997	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92837997G>A	ENST00000394468.2	-	4	985	c.908C>T	c.(907-909)tCt>tTt	p.S303F	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S291F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S326F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S291F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	303	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TACTTTCTCAGATGCAACTTC	0.443000													32	174					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114164309	114164309	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:114164309C>T	ENST00000393081.1	+	4	613	c.306C>T	c.(304-306)ccC>ccT	p.P102P	ACSL5_ENST00000354273.4_Silent_p.P102P|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Silent_p.P102P|ACSL5_ENST00000356116.1_Silent_p.P158P|ACSL5_ENST00000433418.1_Silent_p.P102P	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	102					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAAACCAGCCCTACAGATGGC	0.373000													25	53					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938592	76938592	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:76938592G>A	ENST00000373344.5	-	9	2370	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	ATRX_ENST00000395603.3_Missense_Mutation_p.S681F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	719					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGATTGCTTAGATTTTGGCAA	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						28	175					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610693	42610693	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42610693G>A	ENST00000359486.3	-	1	755	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	TCF20_ENST00000335626.4_Missense_Mutation_p.H207Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	207	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCTGTAGATGGGATGAGCTG	0.562000													42	68					0	0	1	0	0
MIR192	406967	broad.mit.edu	37	11	64658677	64658677	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64658677C>T	ENST00000384915.1	-	0	41					NR_029578.1																						AGAGCACTGGCTGTCAATTCA	0.632000													3	4					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27121393	27121393	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27121393G>A	ENST00000374145.1	+	3	1550	c.868G>A	c.(868-870)Gga>Aga	p.G290R	PIGV_ENST00000078527.4_Missense_Mutation_p.G290R|PIGV_ENST00000449950.2_Missense_Mutation_p.G62R	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	290					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GATTGCAGAGGGAAATGAACC	0.478000													114	258					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933864	54933864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:54933864C>T	ENST00000474759.1	+	27	2466	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L	CACNA2D3_ENST00000490478.1_Silent_p.L712L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.L806L|CACNA2D3_ENST00000415676.2_Silent_p.L806L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	806						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCATCCAGCTCCTGGATGAAC	0.428000													10	14					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457766	110457766	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110457766G>A	ENST00000378402.5	+	38	5772	c.5668G>A	c.(5668-5670)Gga>Aga	p.G1890R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1890	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGGGACCACTGGAATGGTCGA	0.433000										HNSCC(38;0.096)			13	22					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101304265	101304265	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101304265G>A	ENST00000259455.2	-	3	979	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	174					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGGACGGTCCGAAAGAAATAA	0.478000													4	84					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197241154	197241154	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:197241154G>A	ENST00000392379.1	-	7	944	c.543C>T	c.(541-543)ccC>ccT	p.P181P	BDH1_ENST00000441275.1_Silent_p.P94P|BDH1_ENST00000358186.2_Silent_p.P181P|BDH1_ENST00000392378.2_Silent_p.P181P	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	181					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TTCGGATGAGGGGGAGAAAGG	0.572000													26	54					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547647	63547647	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:63547647C>T	ENST00000397968.2	+	12	2301	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	CDH7_ENST00000323011.3_Silent_p.L625L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	625					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGTTGATCCTCCTTATCGTCA	0.433000													16	54					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15998551	15998551	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:15998551G>A	ENST00000381998.4	-	9	1102	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000262101.5_Intron|MSR1_ENST00000445506.2_Intron|MSR1_ENST00000536385.1_Missense_Mutation_p.P120L|MSR1_ENST00000355282.2_Intron	NM_002445.3	NP_002436.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	346					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GAGTTGTACTGGTCCTGACAC	0.373000													10	103					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87696600	87696600	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:87696600T>C	ENST00000436978.1	+	35	6181	c.5701T>C	c.(5701-5703)Tcc>Ccc	p.S1901P	PTPN13_ENST00000511467.1_Missense_Mutation_p.S1901P|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1705P|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1877P|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1896P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1896	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGGTTTTTCCTTATGTGG	0.333000													13	26					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306055	132306055	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:132306055C>T	ENST00000331898.7	-	6	1440	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.E288K|OPCML_ENST00000374778.4_Missense_Mutation_p.E247K|OPCML_ENST00000524381.1_Missense_Mutation_p.E281K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	288	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TAATCCTTTTCTGAAACATTG	0.468000													39	43					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851604	102851604	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102851604G>A	ENST00000264257.2	+	11	1671	c.1545G>A	c.(1543-1545)ggG>ggA	p.G515G	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G515G|IL1RL2_ENST00000441515.2_Silent_p.G397G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	515	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGTGGCATGGGGACTTCACGG	0.512000											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	103					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3054020	3054020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3054020G>A	ENST00000221561.8	-	7	771	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Nonsense_Mutation_p.Q131*|AES_ENST00000586839.1_Nonsense_Mutation_p.Q75*	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	131					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	p.Q198K(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACAGCTGGTGGGCTTGG	0.721000													6	20					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000385	56000385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56000385G>A	ENST00000313264.4	-	1	352	c.277C>T	c.(277-279)Cag>Tag	p.Q93*		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTGTGGAGCTGGGAATCCCTA	0.398000													27	50					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121448047	121448047	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:121448047C>T	ENST00000260197.7	+	25	3647	c.3518C>T	c.(3517-3519)tCc>tTc	p.S1173F	SORL1_ENST00000532694.1_Missense_Mutation_p.S19F|SORL1_ENST00000525532.1_Missense_Mutation_p.S117F|SORL1_ENST00000534286.1_Missense_Mutation_p.S83F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1173	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCATCCGCTCCTCCTGGGTA	0.547000													49	45					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357661	55357661	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55357661C>T	ENST00000524622.1	-	6	767	c.106G>A	c.(106-108)Gat>Aat	p.D36N	TESPA1_ENST00000449076.1_Missense_Mutation_p.D174N|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.D36N|TESPA1_ENST00000531122.1_Missense_Mutation_p.D36N|TESPA1_ENST00000316577.8_Missense_Mutation_p.D174N	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	174																	TCTTTGTGATCCTCTTGGCCA	0.498000													63	103					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078583	157078583	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:157078583C>T	ENST00000265007.6	-	1	845	c.504G>A	c.(502-504)ttG>ttA	p.L168L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.L168L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	168					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGGGCCTTCCAACTTGACCA	0.662000													29	57					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62180805	62180805	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:62180805G>A	ENST00000474889.1	+	10	1665	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	PTPRG_ENST00000295874.10_Missense_Mutation_p.D430N	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	430	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTGTCGGAACGACATGCGCAG	0.547000													56	111					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89984447	89984447	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:89984447C>T	ENST00000222511.6	+	4	433	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	123					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TCAAGGAGGTCTTGGTGGTAA	0.343000													38	176					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571801	47571801	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47571801G>A	ENST00000334194.3	+	9	1072	c.1067_splice	c.e9-1	p.E357_splice	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	357						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTACCCAGGGAACACCTGAG	0.483000													53	115					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996477	4996477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:4996477G>A	ENST00000380051.2	-	6	781	c.737C>T	c.(736-738)gCc>gTc	p.A246V	RPP40_ENST00000464646.1_Missense_Mutation_p.A186V|RPP40_ENST00000319533.5_Missense_Mutation_p.A223V	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	246					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.A246>?(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTGAAGACGGCGCCGAGCCA	0.557000													49	112					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029932	143029932	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143029932T>C	ENST00000343257.2	+	12	1454	c.1367T>C	c.(1366-1368)gTt>gCt	p.V456A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	456					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGTCAACGTTGTCATCATC	0.488000													92	165					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56093924	56093924	+	Missense_Mutation	SNP	C	C	T	rs143392924		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56093924C>T	ENST00000426658.2	-	4	1610	c.949G>A	c.(949-951)Gac>Aac	p.D317N	CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.D55N|CTCFL_ENST00000429804.2_Missense_Mutation_p.D317N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D317N|CTCFL_ENST00000433949.2_Missense_Mutation_p.D317N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422109.2_Missense_Mutation_p.D317N|CTCFL_ENST00000423479.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D317N|CTCFL_ENST00000539382.1_Missense_Mutation_p.D112N|CTCFL_ENST00000371196.2_Missense_Mutation_p.D317N			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	317					cell cycle|DNA methylation involved in gamete generation|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	p.D317N(3)		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)			ATGTTGCAGTCGTTACACTTG	0.398000													35	78					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431347	56431347	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56431347C>T	ENST00000302969.2	+	1	210	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGTATTTTTTCCTCTGCAACC	0.448000													101	221					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722077	53722077	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53722077G>A	ENST00000536324.2	-	3	1432	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	SP7_ENST00000537210.2_Silent_p.P365P|SP7_ENST00000303846.3_Silent_p.P383P	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CACTGGGAGGGGGACCCGGGC	0.667000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903071	76903071	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76903071G>A	ENST00000285871.4	+	10	1361	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	412										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCTTCACAAGGAAGTTGAAGT	0.353000													93	174					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588793	247588793	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247588793T>C	ENST00000366497.2	+	4	2828	c.2048T>C	c.(2047-2049)tTt>tCt	p.F683S	NLRP3_ENST00000391827.2_Missense_Mutation_p.F683S|NLRP3_ENST00000366496.2_Missense_Mutation_p.F683S|NLRP3_ENST00000336119.3_Missense_Mutation_p.F683S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.F683S|NLRP3_ENST00000391828.3_Missense_Mutation_p.F683S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	683					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCTGGGGTTTCTCCATAAC	0.512000													6	110					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155556607	155556607	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:155556607C>T	ENST00000401878.3	+	15	3279	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1027							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGACGCTGACCAGGGGGGGCC	0.662000													8	21					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677586	107677586	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:107677586C>T	ENST00000525071.1	-	7	1019	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Missense_Mutation_p.G144E|SLC35F2_ENST00000375682.4_Missense_Mutation_p.G97E|SLC35F2_ENST00000525815.1_Missense_Mutation_p.G144E			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	144					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CACAGGAATCCCAAAGCAATC	0.403000													27	48					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154677455	154677455	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154677455G>A	ENST00000404039.1	+	22	2640		c.e22+1		DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAACTCTATGGTAAATAGCCC	0.612000													4	29					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113726016	113726016	+	Silent	SNP	C	C	T	rs114165597	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113726016C>T	ENST00000550785.1	+	21	2068	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	TPCN1_ENST00000335509.6_Silent_p.F561F|TPCN1_ENST00000541517.1_Silent_p.F633F|TPCN1_ENST00000392569.4_Silent_p.F493F	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	561						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACACCATGTTCGAGCTGCTGC	0.672000													24	44					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76414540	76414540	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:76414540C>T	ENST00000357063.3	+	23	4907	c.3647C>T	c.(3646-3648)aCc>aTc	p.T1216I	LMO7_ENST00000465261.2_Missense_Mutation_p.T931I|LMO7_ENST00000341547.4_Missense_Mutation_p.T882I|LMO7_ENST00000526202.1_Missense_Mutation_p.T808I|LMO7_ENST00000321797.8_Missense_Mutation_p.T931I|LMO7_ENST00000377534.3_Missense_Mutation_p.T1216I			Q8WWI1	LMO7_HUMAN	LIM domain 7	1216						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCAGTTCCAACCATCAGTGCC	0.498000													4	38					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	882906	882906	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:882906G>A	ENST00000336868.3	-	1	104	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	5					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AGCTCCTCCAGGAAGCCCGAC	0.761000													7	8					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049163	50049163	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50049163G>A	ENST00000371564.3	-	9	2382	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	NFATC2_ENST00000396009.3_Silent_p.L721L|NFATC2_ENST00000414705.1_Silent_p.L701L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	721					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGTGGCCACGAGGCAGGAGG	0.662000													22	47					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62377131	62377131	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62377131G>A	ENST00000394773.2	-	5	911	c.604C>T	c.(604-606)Cct>Tct	p.P202S	EML3_ENST00000529309.1_Missense_Mutation_p.P202S|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.P174S|EML3_ENST00000278845.4_Missense_Mutation_p.P203S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	202						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CGAGATCCAGGGCCCCCAGGG	0.577000													144	273					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66082709	66082709	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:66082709C>T	ENST00000360689.5	+	4	1944	c.217C>T	c.(217-219)Cct>Tct	p.P73S	FUT8_ENST00000394586.2_Missense_Mutation_p.P73S|FUT8_ENST00000394585.1_Missense_Mutation_p.P73S|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	73					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACCAGAAGGCCCTATTGATCA	0.373000													3	29					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814117	248814117	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248814117G>A	ENST00000344889.3	-	1	68	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCCAGGGGAAACGGGCGT	0.488000													29	78					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629521	155629521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155629521G>A	ENST00000368340.5	-	10	2642	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	YY1AP1_ENST00000407221.1_Missense_Mutation_p.S696F|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S716F|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S716F|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S727F|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S696F|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S865F|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S573F|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S707F|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S773F|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S727F|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S727F	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATCCCCAGGGGAAGAGTTGTT	0.502000													65	215					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87323250	87323250	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87323250G>A	ENST00000338056.3	+	3	676	c.265G>A	c.(265-267)Gct>Act	p.A89T	RUNDC3B_ENST00000394654.3_Intron|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	89	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CAGATGGCTGGCTCATCTCCA	0.438000													14	212					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12535043	12535043	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:12535043C>T	ENST00000538608.1	+	9	911	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	PARVA_ENST00000334956.8_Intron|PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	0					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AGGGCTTTCCCCCTTGCCATC	0.557000													9	13					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824287	70824287	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70824287C>T	ENST00000258111.4	+	3	946	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTTCTGCATCGCACTCATGA	0.483000													85	130					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974880	49974880	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49974880G>A	ENST00000555099.1	+	1	938	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	302					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						TGTGTAGTAGGAAAGCTATTT	0.383000													15	28					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94069764C>T	ENST00000553484.1	+	26	3908	c.3754_splice	c.e26+1	p.P1252_splice	UNC79_ENST00000393151.2_Splice_Site_p.R1252_splice|UNC79_ENST00000555664.1_Splice_Site_p.R1252_splice|UNC79_ENST00000256339.4_Splice_Site_p.R1075_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252						integral to membrane		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473000													16	45					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45010210	45010210	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45010210C>T	ENST00000454753.1	-	0	2017							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATCTCTGCTTCCATTAGACGG	0.403000													5	37					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150889680	150889680	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150889680C>T	ENST00000261800.5	-	21	11973	c.11961G>A	c.(11959-11961)agG>agA	p.R3987R	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3987	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACAGTTCTCCCTTCCTTGTT	0.532000													78	149					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482473	20482473	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20482473C>T	ENST00000305045.2	-	1	879	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCTTTCATCTCCTCATTTCTC	0.418000													35	139					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227147	35227147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:35227147C>T	ENST00000339480.1	+	2	662	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	98					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGTGGCCTACCGCGAGGAACG	0.637000													29	42					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059766	152059766	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152059766T>A	ENST00000368806.1	-	3	456	c.392A>T	c.(391-393)aAg>aTg	p.K131M		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	131							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAGCATCCTCTTTTCTTGAGT	0.488000													37	144					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41570382	41570382	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:41570382T>A	ENST00000262415.3	+	6	909	c.837T>A	c.(835-837)ggT>ggA	p.G279G	DHX8_ENST00000540306.1_Silent_p.G279G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	279	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGCAGTTTGGTTGCTTTGTGC	0.463000													44	119					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534794	55534794	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55534794G>A	ENST00000220676.1	+	3	881	c.733G>A	c.(733-735)Ggg>Agg	p.G245R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	245					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)			TAGATTACCAGGGATCTCTCA	0.438000													43	66					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182697	140182697	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140182697G>A	ENST00000522353.2	+	1	1915	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	PCDHA3_ENST00000532566.2_Missense_Mutation_p.E639K|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAGGTGGACGC	0.667000													12	146					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55312531	55312531	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:55312531G>A	ENST00000491895.2	-	5	769	c.581C>T	c.(580-582)aCg>aTg	p.T194M	GCH1_ENST00000543643.2_Missense_Mutation_p.T194M|GCH1_ENST00000536224.2_Missense_Mutation_p.T194M|GCH1_ENST00000395514.1_Missense_Mutation_p.T194M|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	194					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						CAAGGCTTCCGTGATTGCTAC	0.473000													25	79					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917782	29917782	+	Missense_Mutation	SNP	C	C	T	rs56077855		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29917782C>T	ENST00000389048.3	-	3	1792	c.886G>A	c.(886-888)Gag>Aag	p.E296K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	296	MAM 1.		E -> Q (in dbSNP:rs56077855).		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)	GAGGCCTCCTCGGAGGGGATG	0.617000			"""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				59	140					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35608907	35608907	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35608907C>T	ENST00000336395.5	+	10	1299	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	350					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCAGATCCCCGGCTTTCC	0.577000													5	217					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188247981	188247981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:188247981C>T	ENST00000409998.1	-	6	884	c.103G>A	c.(103-105)Gga>Aga	p.G35R	CALCRL_ENST00000392370.3_Missense_Mutation_p.G35R|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.G35R|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	35						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTAGTAACTCCCAACTGAATT	0.353000													26	62					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120394663	120394663	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120394663G>A	ENST00000283871.5	-	2	522	c.63C>T	c.(61-63)tgC>tgT	p.C21C	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	21					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGGAACCTGGGCAGCGAGGAT	0.458000													46	100					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957478	111957478	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111957478G>A	ENST00000369732.3	-	11	1700	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	549					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AAATGGACAGGGGTCATAGTC	0.547000													67	120					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061606	6061606	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6061606C>T	ENST00000261405.5	-	49	8320	c.8066G>A	c.(8065-8067)aGg>aAg	p.R2689K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2689					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTGTGACCCTCTTCTCCCA	0.502000													26	53					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477473	58477473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58477473C>T	ENST00000344743.3	-	6	798	c.657G>A	c.(655-657)tgG>tgA	p.W219*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W219*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	219					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCATTAGATCCCAGCACACAG	0.552000													9	129					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3125491	3125491	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:3125491G>A	ENST00000263650.7	-	10	1335	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.F324F|OSBPL5_ENST00000389989.3_Silent_p.F324F|OSBPL5_ENST00000525498.1_Silent_p.F303F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	392					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTCCAGTACGAACGTGGGTA	0.622000													21	35					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884720	22884720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:22884720C>T	ENST00000276431.4	-	7	1146	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E259K|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E108K	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	288					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		ACTTCCATTTCCTGCTCAGGG	0.542000													28	38					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859145	105859145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:105859145C>T	ENST00000258456.1	+	1	946	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	277						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GTGGGCTTCTCCCTCTGCTGG	0.622000													20	325					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343330	248343330	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248343330C>A	ENST00000359682.2	+	1	43	c.43C>A	c.(43-45)Ctt>Att	p.L15I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATCCTCCTTGGAATCTT	0.433000													113	263					1.85156e-62	1.87577e-62	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770894	53770894	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53770894C>T	ENST00000311170.4	-	1	78	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	9					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AAGATCATTCCCACTGCCACA	0.522000										HNSCC(26;0.072)			6	86					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622206	112622206	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:112622206G>A	ENST00000550722.1	-	61	10521	c.10126C>T	c.(10126-10128)Ccg>Tcg	p.P3376S	HECTD4_ENST00000377560.5_Missense_Mutation_p.P3350S|HECTD4_ENST00000430131.2_Missense_Mutation_p.P3100S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AACAGGCCCGGAGGGATGGGC	0.692000													11	19					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120180230	120180230	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:120180230G>A	ENST00000392521.2	-	24	2999	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R940C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	940					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCTGTTACGAAGAGCATCA	0.343000													31	52					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901786	166901786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166901786C>T	ENST00000423058.2	-	10	1446	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G477S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G477S|SCN1A_ENST00000303395.4_Missense_Mutation_p.G477S|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	477						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAGAGCCTGCCTGCTGCACTG	0.458000													75	132					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24898476	24898476	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24898476C>T	ENST00000382760.2	+	4	698	c.536C>T	c.(535-537)tCc>tTc	p.S179F	UPB1_ENST00000413389.2_Intron|UPB1_ENST00000326010.5_Intron			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	0	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					gtaattccctccagctggtct	0.537000													40	106					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56329667	56329667	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56329667C>T	ENST00000262290.4	+	8	1221	c.905C>T	c.(904-906)tCc>tTc	p.S302F	LPO_ENST00000421678.2_Missense_Mutation_p.S219F|LPO_ENST00000543544.1_Missense_Mutation_p.S243F|LPO_ENST00000582328.1_Missense_Mutation_p.S219F	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	302					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCTCTGACCTCCTTCCTGGAT	0.622000													23	72					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245408	33245408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33245408C>T	ENST00000451237.1	+	1	492	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	71					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGGGCCCCTCCCTTCCTGCTC	0.721000													62	215					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466127	220466127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220466127C>T	ENST00000456909.1	+	3	322	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	STK11IP_ENST00000295641.10_Missense_Mutation_p.L89F|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	89					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGTTTCTCTTCGATGT	0.547000													26	56					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23656883	23656883	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23656883C>T	ENST00000305877.8	+	22	4459	c.3708C>T	c.(3706-3708)tcC>tcT	p.S1236S	BCR_ENST00000359540.3_Silent_p.S1192S|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1236	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ACAGCTGGTCCTTGGAGGTCA	0.642000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								9	62					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64401765	64401765	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:64401765G>A	ENST00000262043.3	+	5	2668	c.2328G>A	c.(2326-2328)aaG>aaA	p.K776K	PHF3_ENST00000393387.1_Silent_p.K776K			Q92576	PHF3_HUMAN	PHD finger protein 3	776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGACAAAAAGACTGAAATAC	0.378000													38	87					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34871706	34871706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:34871706G>A	ENST00000431794.3	-	7	1064	c.542C>T	c.(541-543)gCt>gTt	p.A181V	MYO19_ENST00000268852.9_Missense_Mutation_p.A181V|MYO19_ENST00000544606.1_Missense_Mutation_p.A47V|MYO19_ENST00000586007.1_Missense_Mutation_p.A181V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	181	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCACCAAAAGCTTCCATGAC	0.517000													19	46					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020257	189020257	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:189020257G>A	ENST00000512729.1	-	4	777	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C|TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	135							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)		AGGAGGCTGCGGACCTGTTCA	0.483000													33	72					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509445	71509445	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71509445C>T	ENST00000396073.3	+	9	2583	c.2302C>T	c.(2302-2304)Cac>Tac	p.H768Y	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	768					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTCCTGGGACCACAGGATACA	0.478000													33	60					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3113473	3113473	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3113473C>T	ENST00000078429.4	+	3	709	c.467C>T	c.(466-468)tCt>tTt	p.S156F		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	156					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCTCCGACTCTGCCAAGTAG	0.672000			Mis		uveal melanoma								10	28					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36216629	36216629	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36216629C>T	ENST00000420124.1	+	13	3795	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L1265L																							AACAGCACCTCCTGGAGTGCG	0.662000													10	17					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46214690	46214690	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:46214690T>A	ENST00000336915.6	-	12	1057	c.988A>T	c.(988-990)Atg>Ttg	p.M330L	SKAP1_ENST00000584924.1_Missense_Mutation_p.M330L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	330	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CAGCCATACATGTTATACTCC	0.438000													30	57					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976401	47976401	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47976401G>A	ENST00000543600.1	-	2	864	c.825C>T	c.(823-825)tcC>tcT	p.S275S	PTCHD4_ENST00000339488.4_Silent_p.S292S			Q6ZW05	CF138_HUMAN	patched domain containing 4	292	SSD.					integral to membrane	hedgehog receptor activity										CCAGCAGGGTGGAGTTGTACT	0.507000													11	29					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503635	47503635	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47503635C>T	ENST00000404338.3	+	6	4190	c.4190C>T	c.(4189-4191)tCc>tTc	p.S1397F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1397	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGAACCTCTCCATCTGCTTC	0.552000													119	245					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26652495	26652495	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26652495G>A	ENST00000288710.2	+	5	614		c.e5-1			NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CTCTTTTCTAGGAGTTAAAAA	0.443000													47	86					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783710	54783710	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:54783710G>A	ENST00000218436.6	-	8	2826	c.2797C>T	c.(2797-2799)Ccc>Tcc	p.P933S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	933	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGCAGAGTGGGAGTAAAGGGC	0.567000													14	18					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399429	89399429	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89399429C>T	ENST00000479981.1	-	0	300																											AGAGTGAAATCTGTCCCAGAT	0.488000													81	193					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703728	41703728	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41703728T>A	ENST00000310054.4	+	3	604	c.388T>A	c.(388-390)Ttt>Att	p.F130I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	130					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						GCTGAGGAAGTTTACCATGCT	0.627000													34	63					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091377	31091377	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31091377C>T	ENST00000394979.2	+	1	4155	c.3732C>T	c.(3730-3732)tcC>tcT	p.S1244S	ZNF646_ENST00000300850.5_Silent_p.S1244S			O15015	ZN646_HUMAN	zinc finger protein 646	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCTCATGTCCCTCAAGAACC	0.637000													24	74					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005304	25005304	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25005304G>A	ENST00000382114.4	-	8	1592	c.1407C>T	c.(1405-1407)ccC>ccT	p.P469P		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	469						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TAAAAGAAAAGGGCTGCAGGG	0.488000													6	259					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762974	138762974	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138762974G>A	ENST00000413199.1	-	1	760	c.489C>T	c.(487-489)ttC>ttT	p.F163F	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.F163F	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	163										breast(2)|lung(7)|skin(2)	11						AGAGCTCCGGGAACTCAGAGT	0.657000													9	22					0	0	1	0	0
PDGFA	5154	broad.mit.edu	37	7	540868	540868	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:540868C>T	ENST00000402802.3	-	5	872	c.465G>A	c.(463-465)gtG>gtA	p.V155V	PDGFA_ENST00000354513.5_Silent_p.V155V	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	155					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TGACGTATTCCACCTTGGCCA	0.567000													115	229					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750017	142750017	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142750017G>A	ENST00000418316.1	+	1	601	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCGCCTGTTGGAATTCTGGGA	0.522000													136	296					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229736	87229736	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:87229736C>T	ENST00000297524.3	-	3	1245	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R372Q	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	381						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						CTGGTATCTCCGCCTTAGTAT	0.289000													6	46					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118870112	118870112	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:118870112C>T	ENST00000295622.1	+	3	1624	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	528								p.P528P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGAGGACCCCCTGAATTTTA	0.368000													83	191					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63551507	63551507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:63551507G>A	ENST00000374852.3	-	11	1349	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	428	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACATGGTCATGAATCTCCAGC	0.433000													17	10					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997645	38997645	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:38997645G>A	ENST00000400482.3	-	4	1677	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	KCNJ6_ENST00000288309.6_Missense_Mutation_p.P363L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	363					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTAAGGGATGGGGTGCTGGT	0.552000													44	113					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263091	248263091	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248263091G>A	ENST00000366478.2	+	3	751	c.414G>A	c.(412-414)atG>atA	p.M138I	OR2L13_ENST00000358120.2_Missense_Mutation_p.M138I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGAGTAAAATGATGTGTGTGA	0.502000													117	311					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122474256	122474256	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122474256G>A	ENST00000383659.1	-	6	796	c.674C>T	c.(673-675)tCc>tTc	p.S225F	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Missense_Mutation_p.P198S			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	0	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GTATCTTCAGGAGGAAAGAGA	0.333000													14	41					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510870	119510870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:119510870G>A	ENST00000368468.3	-	10	1946	c.1505C>T	c.(1504-1506)gCt>gTt	p.A502V		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	502					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGCAATTTCAGCCCCGAGTTC	0.493000													112	53					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166119	193166119	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193166119C>T	ENST00000342695.4	-	18	2350	c.2027_splice	c.e18-1	p.R676_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.R657_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	676					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTACCGTCTCCCTGAAAATAC	0.433000													15	108					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799914	212799914	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212799914C>T	ENST00000294829.3	+	1	2126	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	565										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACGTGGCCATCGCCGAGACAG	0.542000													39	139					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785429	22785429	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22785429G>A	ENST00000600260.1	+	0	1518					NR_033899.1																						GCTGATGCAGGAAAAGGTGGA	0.582000													30	71					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1394963	1394963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:1394963C>T	ENST00000259806.1	+	2	1318	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	402					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCACTCTACTCCAGTGTGTGA	0.458000													61	192					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19473362	19473362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:19473362G>A	ENST00000375267.2	-	52	7765	c.7762C>T	c.(7762-7764)Ctt>Ttt	p.L2588F	UBR4_ENST00000375226.2_Missense_Mutation_p.L2599F|UBR4_ENST00000375254.3_Missense_Mutation_p.L2588F|UBR4_ENST00000375217.2_Missense_Mutation_p.L2588F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2588					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGTGGACAAGGTTGTTGGGG	0.522000													86	218					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303492	6303492	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:6303492T>A	ENST00000226760.1	+	8	2140	c.1970T>A	c.(1969-1971)aTg>aAg	p.M657K	WFS1_ENST00000503569.1_Missense_Mutation_p.M657K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	657					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCAGAGGGCATGAAGGTCTAC	0.607000													8	315					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930921	133930921	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:133930921C>T	ENST00000298622.4	+	2	614	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGGAGATCTCCGAGCTCAAG	0.622000													4	90					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42343039	42343039	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42343039G>A	ENST00000330743.3	-	3	1338	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	43						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TTCCAGTTATGGAAAGCAACA	0.488000													16	186					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188804	203188804	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203188804C>T	ENST00000367229.1	-	8	937	c.903G>A	c.(901-903)ctG>ctA	p.L301L	CHIT1_ENST00000255427.3_Silent_p.L282L|CHIT1_ENST00000535569.1_Silent_p.L292L|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	301					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CATAGTAGGCCAGCATCCCTC	0.582000													93	153					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	422718	422718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:422718G>A	ENST00000431232.2	-	12	2072	c.1912C>T	c.(1912-1914)Ctt>Ttt	p.L638F	TMEM8A_ENST00000250930.3_Missense_Mutation_p.L445F	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	638					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GTACCCAGAAGAAACAGCACC	0.622000													43	102					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226776	43226776	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43226776G>A	ENST00000259750.4	+	11	1100	c.1016_splice	c.e11-1	p.G339_splice	TTBK1_ENST00000304139.5_Splice_Site_p.G288_splice	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	339						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCTCTCCAGGGTGGTCAATG	0.642000													14	51					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120377	94120377	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:94120377G>A	ENST00000369303.4	-	3	858	c.674C>T	c.(673-675)tCc>tTc	p.S225F	EPHA7_ENST00000369297.1_Missense_Mutation_p.S225F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	225	Cys-rich.					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)		GACTAAAGAGGAAAATTCTGA	0.463000													26	54					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26459433	26459433	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26459433G>A	ENST00000265944.5	+	29	3529	c.3363G>A	c.(3361-3363)caG>caA	p.Q1121Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1121					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTCTGATCAGGAATTCGACT	0.338000													10	22					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768668	121768668	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:121768668C>T	ENST00000282561.3	+	2	832	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	225					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.I225I(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCTTGAATATCATTGAACTCT	0.522000													48	106					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734166	141734166	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141734166G>A	ENST00000475668.2	+	15	1828	c.1774G>A	c.(1774-1776)Gtc>Atc	p.V592I	MGAM_ENST00000549489.2_Missense_Mutation_p.V592I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	592	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCATGGCGGTCGCCACAGC	0.438000													5	15					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637282	39637282	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39637282C>G	ENST00000393989.1	-	1	110	c.68G>C	c.(67-69)gGg>gCg	p.G23A	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	23	Head.				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)				AGTGGAGCCCCCACTGGCCCC	0.577000													27	86					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739935	38739935	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38739935C>T	ENST00000449082.2	-	27	4775	c.4776G>A	c.(4774-4776)ggG>ggA	p.G1592G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1592					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGTGCGGATCCCCTTGGCCG	0.527000													61	116					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537366	55537366	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55537366G>A	ENST00000220676.1	+	4	1072	c.924G>A	c.(922-924)caG>caA	p.Q308Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	308					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)			ATGATTCTCAGAATTTACCAA	0.299000													5	78					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676722	123676722	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123676722G>A	ENST00000309154.2	-	1	373	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCACCGCCAAGAGGATAAACT	0.502000													25	19					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198255	48198255	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48198255T>G	ENST00000396720.3	+	9	3188	c.2994T>G	c.(2992-2994)tcT>tcG	p.S998S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	998							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGCTGCGTCTGTGCTGGTCA	0.731000													5	10					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464670	37464670	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:37464670G>A	ENST00000299824.1	+	2	291	c.102G>A	c.(100-102)ctG>ctA	p.L34L	PPP1R16B_ENST00000373331.2_Silent_p.L34L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	34					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCCAGCAGCTGAAGAAATGGG	0.662000													7	13					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140146	2140146	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2140146G>A	ENST00000262304.4	-	46	12702	c.12494C>T	c.(12493-12495)tCc>tTc	p.S4165F	PKD1_ENST00000423118.1_Missense_Mutation_p.S4164F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4165					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCTGGAGGAGCGAGAGGG	0.692000													41	87					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771712	45771712	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45771712C>T	ENST00000327619.5	+	10	1277	c.903C>T	c.(901-903)tcC>tcT	p.S301S	EYA2_ENST00000357410.3_Silent_p.S301S|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	301					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACGACGTCCGTGCGCATTG	0.488000													33	58					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134024179	134024179	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:134024179C>T	ENST00000220616.4	+	36	6336	c.6296C>T	c.(6295-6297)tCt>tTt	p.S2099F	TG_ENST00000377869.1_Missense_Mutation_p.S2042F|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.S469F|TG_ENST00000519543.1_Missense_Mutation_p.S232F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2099					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGCCCTCTCTTCAGTGGTT	0.527000													195	338					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632764	179632764	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179632764G>A	ENST00000589042.1	-	39	9506	c.9282C>T	c.(9280-9282)gaC>gaT	p.D3094D	TTN_ENST00000359218.5_Silent_p.D3048D|TTN_ENST00000591111.1_Silent_p.D3094D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D3094D|TTN_ENST00000460472.2_Silent_p.D3048D|TTN_ENST00000342175.6_Silent_p.D3048D|TTN_ENST00000360870.5_Silent_p.D3094D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2831	Ig-like 18.						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)			GCAGTTCCTGGTCATCTTTCA	0.423000													31	90					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908279	48908279	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48908279G>A	ENST00000263269.3	+	3	842	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	252						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGCCCGAGAGGAGGCCGAGCC	0.716000													21	41					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276547	108276547	+	Missense_Mutation	SNP	C	C	T	rs138754767		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:108276547C>T	ENST00000520734.1	-	7	923	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G212E			Q15389	ANGP1_HUMAN	angiopoietin 1	413					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G413E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTCTGTTTTCCTGCTGTCCC	0.413000													38	65					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938305	12938305	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:12938305C>T	ENST00000218032.6	+	2	1233	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	TLR8_ENST00000311912.5_Silent_p.L400L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	382					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAGGAACTCAGAGAAGATG	0.363000													55	110					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896831	89896831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:89896831G>A	ENST00000525171.1	+	8	1075	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	NAALAD2_ENST00000534061.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron			Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	0	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTCAACAGGGAACAAATATG	0.348000													13	25					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409002	98409002	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98409002G>A	ENST00000186436.5	-	31	4219	c.3991C>T	c.(3991-3993)Cac>Tac	p.H1331Y		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1331	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGTTCTGGGTGGGAAGGGTGT	0.647000													9	18					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73470688	73470688	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:73470688G>A	ENST00000252034.7	+	20	1637	c.1238G>A	c.(1237-1239)gGt>gAt	p.G413D	ELN_ENST00000466878.1_3'UTR|ELN_ENST00000429192.1_Missense_Mutation_p.G418D|ELN_ENST00000320399.6_Missense_Mutation_p.G413D|ELN_ENST00000445912.1_Missense_Mutation_p.G413D|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000357036.5_Missense_Mutation_p.G418D|ELN_ENST00000358929.4_Missense_Mutation_p.G413D|ELN_ENST00000380576.5_Missense_Mutation_p.G413D|ELN_ENST00000458204.1_Missense_Mutation_p.G403D|ELN_ENST00000380575.4_Missense_Mutation_p.G403D|ELN_ENST00000414324.1_Missense_Mutation_p.G408D|ELN_ENST00000380584.4_Missense_Mutation_p.G399D|ELN_ENST00000380562.4_Missense_Mutation_p.G413D|ELN_ENST00000380553.4_Missense_Mutation_p.G296D	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	413	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGTCGGAGGTATCCCTGGA	0.642000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						69	241					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562863	111562863	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:111562863G>A	ENST00000389811.4	+	9	868	c.644G>A	c.(643-645)gGa>gAa	p.G215E	ACOXL_ENST00000439055.1_Missense_Mutation_p.G215E|ACOXL_ENST00000340561.4_Missense_Mutation_p.G215E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	215					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTCCAGATGGACAGTACCAT	0.507000													54	128					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758735	62758735	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:62758735G>A	ENST00000331425.6	-	0	142					NR_003952.1																						CCTCCAGAGAGAATTCTATAG	0.433000													34	134					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034157	14034157	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14034157C>T	ENST00000318003.7	+	15	1894	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CC2D1A_ENST00000589606.1_Silent_p.A551A	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	551					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCCGCCTGCCCCTGTCAACA	0.647000													58	150					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115254	57115254	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:57115254G>A	ENST00000439986.4	-	7	773	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CCBE1_ENST00000398179.2_Silent_p.F21F	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	246	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAGGTCCTGGAAGGTAGGTG	0.577000													54	87					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023087	18023087	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18023087C>T	ENST00000205890.5	+	2	1311	c.973C>T	c.(973-975)Cct>Tct	p.P325S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	325	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTACTCGTCTCCTTACAGCTA	0.612000													76	133					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067721	175067721	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175067721G>A	ENST00000239462.4	+	9	2222	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	703	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCGACACCAAGGCCCAGACAG	0.572000													42	136					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70389240	70389240	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:70389240G>A	ENST00000374051.3	+	7	2102	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.D614N|NLGN3_ENST00000536169.1_Missense_Mutation_p.D574N	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	614					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AAGGGTCCGAGATCATTACCG	0.527000													10	6					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28286209	28286209	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:28286209G>A	ENST00000346498.2	-	7	960	c.852C>T	c.(850-852)ctC>ctT	p.L284L	FBXO16_ENST00000380254.2_3'UTR|FBXO16_ENST00000518734.1_3'UTR			Q8IX29	FBX16_HUMAN	F-box protein 16	0										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GAGGCCAGGCGAGATGAGCTG	0.532000													7	11					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290799	50290799	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50290799G>A	ENST00000338821.5	-	11	1194	c.930C>T	c.(928-930)gcC>gcT	p.A310A	ATP9A_ENST00000311637.5_Silent_p.A174A|ATP9A_ENST00000402822.1_Silent_p.A189A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	310					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACCACCAGGGCACCAAAGA	0.542000													33	70					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90445960	90445960	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:90445960C>T	ENST00000405460.2	+	88	18642	c.18546C>T	c.(18544-18546)ttC>ttT	p.F6182F	GPR98_ENST00000425867.2_Silent_p.F1843F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6182					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CAGCCTTTTTCACGCCCGGGA	0.507000													6	14					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122478	8122478	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:8122478C>T	ENST00000305253.4	+	12	1727	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	TUB_ENST00000534099.1_Missense_Mutation_p.L447F|TUB_ENST00000299506.2_Missense_Mutation_p.L441F	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	441					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GTCCTATGTACTCAACTTCCA	0.498000													12	50					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61503801	61503801	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61503801C>T	ENST00000257215.5	+	13	1466	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	450					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)		TGGTCCTGTCCCAGGCCTTTG	0.577000													22	65					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330067	138330067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:138330067C>T	ENST00000409968.1	+	17	3542	c.3364C>T	c.(3364-3366)Ctt>Ttt	p.L1122F	THSD7B_ENST00000272643.3_Missense_Mutation_p.L1125F|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1094F|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		GTCCTGTTCTCTTATGTGTCC	0.458000													11	43					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622817	74622817	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74622817G>A	ENST00000156626.7	-	5	1426	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	409					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.S409S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCCGTAGAAGGATGTCCGAG	0.532000													121	540					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17199001	17199001	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:17199001G>A	ENST00000180173.5	-	6	637	c.603C>T	c.(601-603)tcC>tcT	p.S201S	MTMR7_ENST00000521857.1_Silent_p.S201S|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	201	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCCGGCAGATGGAGGCCTAGG	0.582000													5	54					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432647	79432647	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:79432647C>T	ENST00000554719.1	+	9	2047	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	NRXN3_ENST00000335750.5_Missense_Mutation_p.S519F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTACACCTCCATGCACCTC	0.498000													41	78					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175414393	175414393	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175414393G>A	ENST00000296522.6	-	6	1017	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000510901.1_Missense_Mutation_p.L70F|HPGD_ENST00000422112.2_Missense_Mutation_p.L123F|HPGD_ENST00000541923.1_Missense_Mutation_p.L70F	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	191					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	ATTGATTCAAGGATGGCTGTG	0.348000													5	76					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674502	71674502	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:71674502G>A	ENST00000299952.4	+	3	848	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	272	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCTGATATACGGTGGCGTGGC	0.567000													6	51					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74101001	74101001	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:74101001C>T	ENST00000389156.4	-	7	869	c.779G>A	c.(778-780)aGa>aAa	p.R260K	FAM169A_ENST00000510496.1_Missense_Mutation_p.R200K|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	260										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AAGTGCTTCTCTTTGTAATGC	0.408000													24	62					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434448	121434448	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:121434448C>T	ENST00000257555.6	+	6	1438	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.I404I|HNF1A_ENST00000544413.1_Silent_p.I404I|HNF1A_ENST00000402929.1_Silent_p.I404I|HNF1A_ENST00000543427.1_Silent_p.I287I|HNF1A_ENST00000541395.1_Silent_p.I404I			P20823	HNF1A_HUMAN	HNF1 homeobox A	404					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAACCTCATCATGGCCTCAC	0.642000									Hepatic Adenoma, Familial Clustering of				22	36					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75072399	75072399	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75072399G>A	ENST00000310715.3	-	11	1245	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	TTC18_ENST00000394865.1_Silent_p.T375T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.T375T|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	375							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)					ATAAACATTTGGTCTGAAAAA	0.294000													67	131					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639207	32639207	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32639207G>A	ENST00000286827.3	-	5	553	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	TIAM1_ENST00000541036.1_Missense_Mutation_p.R28C|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	28					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGGGAGCGGGAAGTGTGC	0.577000													6	66					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266520	150266520	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:150266520G>A	ENST00000367351.3	+	2	234	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	54	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GCGGTTCAAGGCCAGGTGGAT	0.522000													106	54					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53119019	53119019	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:53119019G>A	ENST00000395686.3	-	13	1286	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	355					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AAATGCAAAGGAAATGACCTG	0.279000													39	99					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011382	156011382	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156011382G>A	ENST00000368309.3	-	10	1639	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	UBQLN4_ENST00000368307.1_Silent_p.F168F	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	516						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.S516F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGGTGAGGAAGTGGGGGC	0.607000													17	47					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169146818	169146818	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169146818C>T	ENST00000393743.3	-	34	4834	c.4543G>A	c.(4543-4545)Gat>Aat	p.D1515N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1515							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGGAGATCATCAAGGAACACC	0.353000													4	84					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788551	5788551	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5788551T>A	ENST00000328090.5	+	15	3792	c.3167T>A	c.(3166-3168)tTt>tAt	p.F1056Y		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1056																	ACTCTCACCTTTGAAAAAAAT	0.408000													23	87					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74559080	74559080	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74559080C>T	ENST00000321288.5	+	6	990	c.990C>T	c.(988-990)ccC>ccT	p.P330P	CCDC33_ENST00000398814.3_Silent_p.P127P			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	330							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAAAATCCCCATCAAGTACC	0.488000													10	220					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179581972	179581972	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179581972G>A	ENST00000589042.1	-	88	25713	c.25489C>T	c.(25489-25491)Cgc>Tgc	p.R8497C	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8180C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7253C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8180	Ig-like 67.						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)			CCTCCAGGGCGAATCTCTCGG	0.458000													4	95					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672197	49672197	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:49672197A>C	ENST00000561648.1	-	4	919	c.866T>G	c.(865-867)cTg>cGg	p.L289R	ZNF423_ENST00000562520.1_Missense_Mutation_p.L229R|ZNF423_ENST00000535559.1_Missense_Mutation_p.L172R|ZNF423_ENST00000567169.1_Missense_Mutation_p.L172R|ZNF423_ENST00000562871.1_Missense_Mutation_p.L229R|ZNF423_ENST00000262383.2_Missense_Mutation_p.L289R|ZNF423_ENST00000563137.2_Missense_Mutation_p.L229R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	289					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTCTCGGACAGCTGCGGGTG	0.597000													3	46					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113612911	113612911	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113612911G>A	ENST00000314045.7	-	8	831	c.804C>T	c.(802-804)ctC>ctT	p.L268L	DDX54_ENST00000306014.5_Silent_p.L268L	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	268	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCCCGGGGAGGCGGGCGA	0.647000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	81					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724447	58724447	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58724447C>T	ENST00000326804.4	+	9	2356	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.L528F|ZNF274_ENST00000345813.3_Missense_Mutation_p.L601F	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	634					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GAGCTCACACCTTATTGGGCA	0.517000													52	81					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348869	30348869	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:30348869G>A	ENST00000327564.7	+	1	846	c.785G>A	c.(784-786)gGc>gAc	p.G262D	LRRC37B_ENST00000543378.2_Missense_Mutation_p.G153D|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G235D|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G235D|LRRC37B_ENST00000584368.1_Missense_Mutation_p.G247D			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	235						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGTATCCCGGCAGCCTACCT	0.483000													91	163					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378528	133378528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:133378528G>A	ENST00000204726.3	-	8	2183	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	GOLGA3_ENST00000537452.1_Missense_Mutation_p.A542V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A542V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A542V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A542V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	542	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTCTGCAAGGCTGTCATCTG	0.672000													29	42					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247395	71247395	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:71247395G>A	ENST00000318789.4	-	6	663	c.138C>T	c.(136-138)atC>atT	p.I46I	FOXP1_ENST00000468577.1_Silent_p.I46I|FOXP1_ENST00000493089.1_Silent_p.I46I|FOXP1_ENST00000318779.3_Silent_p.I46I|FOXP1_ENST00000484350.1_Silent_p.I46I|FOXP1_ENST00000475937.1_Silent_p.I46I|FOXP1_ENST00000498215.1_Silent_p.I46I	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	46					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGCTGCCCCGATGTCCACGG	0.632000			T	PAX5	ALL								92	128					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643149	111643149	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:111643149G>A	ENST00000261486.5	-	2	414	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	46	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTACGTGATGGAATACGTGGT	0.383000													20	51					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000													70	162					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545832	82545832	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82545832G>A	ENST00000423517.2	-	7	11807	c.11470C>T	c.(11470-11472)Ctc>Ttc	p.L3824F	PCLO_ENST00000333891.8_Missense_Mutation_p.L3824F|PCLO_ENST00000437081.1_Missense_Mutation_p.L544F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3755	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTCCCTGGAGGTAGGCTCGT	0.463000													26	140					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136500226	136500226	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136500226C>T	ENST00000308191.6	+	10	1198	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	299	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGCTCACCTCCACAATAAAGA	0.428000													40	88					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892931	16892931	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16892931C>T	ENST00000430580.2	-	26	3750	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	955	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGGTCTTCTTCCACTTCTTGG	0.423000													21	1204					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692212	69692212	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69692212C>T	ENST00000265403.7	+	4	1111	c.1084C>T	c.(1084-1086)Cta>Tta	p.L362L	UGT2B10_ENST00000458688.2_Silent_p.L278L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	362					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L362L(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAATGACCTTCTAGGTAACAC	0.378000													35	95					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118827797	118827797	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:118827797T>C	ENST00000504811.1	+	11	976	c.792T>C	c.(790-792)gtT>gtC	p.V264V	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000510025.1_Silent_p.V215V|HSD17B4_ENST00000515320.1_Silent_p.V221V|HSD17B4_ENST00000414835.2_Silent_p.V99V|HSD17B4_ENST00000513628.1_Silent_p.V102V|HSD17B4_ENST00000256216.6_Silent_p.V239V	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	239	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTGGTAGGTTGGAGCAGGAT	0.338000													71	146					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52570841	52570841	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52570841G>A	ENST00000389534.4	-	7	753	c.294C>T	c.(292-294)atC>atT	p.I98I	ZNF841_ENST00000426391.2_5'UTR|ZNF841_ENST00000594295.1_Silent_p.I98I|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTAATTCCTTGATCACACATT	0.323000													17	35					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837670	124837670	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124837670G>A	ENST00000423114.2	-	8	941	c.942C>T	c.(940-942)ctC>ctT	p.L314L	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.L86L|SLC12A8_ENST00000393469.4_Silent_p.L285L|SLC12A8_ENST00000314584.7_Silent_p.L38L|SLC12A8_ENST00000469902.1_Silent_p.L285L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	285					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGGCGCCCAGGAGGAAGACGA	0.577000													15	44					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514186	69514186	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:69514186G>A	ENST00000294312.3	-	3	1260	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	165					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCATGGGCAGGAAATGAGAGA	0.587000													48	170					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149499032	149499032	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149499032C>T	ENST00000261799.4	-	20	3265	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	932	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACTCACATCTCGTCGGAGG	0.507000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								48	175					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427906	31427906	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31427906G>A	ENST00000389202.2	+	20	2487	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	813					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						GATTCCTACGGAACCGTGGTC	0.617000													6	174					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81304614	81304614	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81304614C>T	ENST00000555265.1	-	11	1233	c.858G>A	c.(856-858)caG>caA	p.Q286Q	CEP128_ENST00000281129.3_Silent_p.Q286Q|CEP128_ENST00000216517.6_Silent_p.Q286Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	286						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTCCAATTCCTGTTCAAGCT	0.348000													8	83					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461774	66461774	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:66461774C>A	ENST00000404260.3	+	29	7084	c.6776C>A	c.(6775-6777)tCc>tAc	p.S2259Y	MAST4_ENST00000403625.2_Missense_Mutation_p.S2256Y|MAST4_ENST00000405643.1_Missense_Mutation_p.S2077Y|MAST4_ENST00000403666.1_Missense_Mutation_p.S2067Y|MAST4_ENST00000261569.7_Missense_Mutation_p.S2062Y			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2259						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACCCCAGGCTCCCAGAACAAA	0.617000													38	72					1.48646e-12	1.49727e-12	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139278008	139278008	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:139278008C>T	ENST00000395297.1	-	4	405	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	79										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)			GGTACCTCTTCATTCCGGTAT	0.483000										HNSCC(54;0.14)			46	86					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481779	52481779	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:52481779G>A	ENST00000216286.5	-	15	3242	c.3243C>T	c.(3241-3243)acC>acT	p.T1081T	NID2_ENST00000541773.1_Silent_p.T980T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1081	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACACGCAGGGGTGGTGCCTG	0.632000													6	27					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244186	56244186	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56244186G>A	ENST00000332836.2	-	2	1038	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	337	NACHT.					cytoplasm	ATP binding	p.P337P(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCACGTAAAGGGATTATGGC	0.428000													53	132					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66458599	66458599	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:66458599A>T	ENST00000423207.2	+	1	495	c.10A>T	c.(10-12)Aaa>Taa	p.K4*	PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					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)	CATGACAGCAAAAGATTCTTC	0.413000													11	49					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7536130	7536130	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7536130C>T	ENST00000380450.4	+	7	944	c.913C>T	c.(913-915)Cct>Tct	p.P305S	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.P193S|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.P247S|SHBG_ENST00000575903.1_Missense_Mutation_p.P287S|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000574539.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	305	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CTTGGGACTCCCTCTTCAGCT	0.597000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	82					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55600246	55600246	+	Missense_Mutation	SNP	G	G	A	rs111033363	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55600246G>A	ENST00000373965.2	-	30	4232	c.3838C>T	c.(3838-3840)Cgc>Tgc	p.R1280C	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1202C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1280C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1251C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1236C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R884C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1273C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1278C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1273C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1273					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAACATAGCGATCCAAGATC	0.408000										HNSCC(58;0.16)			18	37					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724933	158724933	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158724933C>T	ENST00000368144.2	+	1	424	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCCCAAGATGCTGTCCTGCCT	0.512000													104	128					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9303316	9303316	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9303316G>T	ENST00000261336.2	-	34	4336	c.4308C>A	c.(4306-4308)tcC>tcA	p.S1436S	PZP_ENST00000381997.2_Silent_p.S1222S	NM_002864.2	NP_002855.2			pregnancy-zone protein											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						GAACCATGAAGGAAAAACTTA	0.383000													21	71					7.45023e-12	7.50246e-12	1	1	0
SSPO	23145	broad.mit.edu	37	7	149518047	149518047	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149518047G>A	ENST00000378016.2	+	0	12390							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCCCGGGGAGCCAGCACC	0.687000													8	20					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037596	64037596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64037596G>A	ENST00000544785.1	-	2	401	c.401C>T	c.(400-402)gCc>gTc	p.A134V	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TTTTGCATAGGCCTGAGGGAA	0.602000													7	19					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52937100	52937100	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52937100G>A	ENST00000354452.3	-	11	1495	c.884C>T	c.(883-885)tCc>tTc	p.S295F	TCF4_ENST00000564228.1_Missense_Mutation_p.S224F|TCF4_ENST00000537856.3_Missense_Mutation_p.S165F|TCF4_ENST00000570177.2_Missense_Mutation_p.S165F|TCF4_ENST00000567880.1_Missense_Mutation_p.S235F|TCF4_ENST00000565018.2_Missense_Mutation_p.S295F|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.S301F|TCF4_ENST00000561992.1_Missense_Mutation_p.S165F|TCF4_ENST00000537578.1_Missense_Mutation_p.S271F|TCF4_ENST00000568740.1_Missense_Mutation_p.S270F|TCF4_ENST00000540999.1_Missense_Mutation_p.S271F|TCF4_ENST00000356073.4_Missense_Mutation_p.S295F|TCF4_ENST00000568673.1_Missense_Mutation_p.S271F|TCF4_ENST00000564999.1_Missense_Mutation_p.S295F|TCF4_ENST00000457482.3_Missense_Mutation_p.S135F|TCF4_ENST00000566279.1_Missense_Mutation_p.S235F|TCF4_ENST00000543082.1_Missense_Mutation_p.S253F|TCF4_ENST00000398339.1_Missense_Mutation_p.S397F|TCF4_ENST00000566286.1_Missense_Mutation_p.S293F|TCF4_ENST00000544241.2_Missense_Mutation_p.S224F|TCF4_ENST00000561831.3_Missense_Mutation_p.S135F|TCF4_ENST00000570287.2_Missense_Mutation_p.S135F	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	295					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGCGTACAGGAAGAGGTGCT	0.458000													4	102					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107865093	107865093	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107865093C>T	ENST00000328300.6	+	32	2982	c.2738C>T	c.(2737-2739)cCt>cTt	p.P913L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P913L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	913	Triple-helical region.				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						TTGGGAATTCCTGGCAGGAGT	0.418000									Alport syndrome with Diffuse Leiomyomatosis				14	12					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837898	92837898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92837898G>A	ENST00000394468.2	-	4	1084	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S324F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S359F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S324F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	336						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATACCTACGGAAGTGATGAT	0.418000													63	121					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114620	158114620	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158114620G>A	ENST00000259056.4	+	1	511	c.26G>A	c.(25-27)cGa>cAa	p.R9Q		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	9					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGTTTTTCCGAGGAAGTGGG	0.502000													4	170					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5164065	5164065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:5164065C>T	ENST00000381641.3	-	2	555	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	164						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGATGATGCCCCCAAAACAAA	0.318000													4	61					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990825	21990825	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:21990825G>A	ENST00000594012.1	-	7	2510	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	ZNF43_ENST00000354959.4_Missense_Mutation_p.H672Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H666Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H666Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCTCCAGTATGAATTATCTTA	0.368000													32	74					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184421	55184421	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:55184421C>T	ENST00000337714.3	+	2	1829	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	AKAP1_ENST00000571629.1_Silent_p.I532I|AKAP1_ENST00000314126.3_Silent_p.I532I|AKAP1_ENST00000539273.1_Silent_p.I532I|AKAP1_ENST00000572557.1_Silent_p.I532I	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	532					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACAAGGCCATCACCCCGCCAC	0.577000													79	282					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	110035366	110035366	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:110035366G>A	ENST00000218054.4	-	2	240	c.44C>T	c.(43-45)tCg>tTg	p.S15L	CHRDL1_ENST00000482160.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S9L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S15L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S15L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	9					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAACAACAACGAAAAGATGTA	0.353000													31	9					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758781	55758781	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55758781C>T	ENST00000395863.3	-	4	1460	c.955G>A	c.(955-957)Gca>Aca	p.A319T	BMP7_ENST00000450594.2_Missense_Mutation_p.A319T|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	319					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGCATACCTGCCACGTTGGCC	0.637000													60	83					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			45	180					0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253778	11253778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11253778G>A	ENST00000376819.3	+	3	858	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_3'UTR	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	207	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCTGGGGAACGAACACATCCA	0.597000													23	46					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142965201	142965201	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142965201C>T	ENST00000479303.1	+	6	781	c.723C>T	c.(721-723)atC>atT	p.I241I	GSTK1_ENST00000358406.5_Silent_p.I185I|GSTK1_ENST00000443571.2_Silent_p.I142I|GSTK1_ENST00000409500.3_Silent_p.I173I|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	185						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGCTGCCCATCACCGTGGCCC	0.517000													18	921					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424574	68424574	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:68424574A>C	ENST00000265404.2	+	1	129	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	STAP1_ENST00000396225.1_Missense_Mutation_p.Q16P	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	16					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGGATCTTCCAGGAAAGGTTA	0.418000													11	184					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069800	114069800	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:114069800G>A	ENST00000462705.1	-	11	1727	c.906C>T	c.(904-906)ttC>ttT	p.F302F	ZBTB20_ENST00000357258.3_Silent_p.F302F|ZBTB20_ENST00000481632.1_Silent_p.F302F|ZBTB20_ENST00000393785.2_Silent_p.F302F|ZBTB20_ENST00000471418.1_Silent_p.F302F|ZBTB20_ENST00000464560.1_Silent_p.F302F|ZBTB20_ENST00000474710.1_Silent_p.F375F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGCCCGAGTCGAAGCTTTCAC	0.637000													22	65					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202016	140202016	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140202016C>T	ENST00000529859.1	+	1	656	c.656C>T	c.(655-657)cCc>cTc	p.P219L	PCDHA5_ENST00000378126.3_Missense_Mutation_p.P219L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P219L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAAAACCCGAACTAACA	0.363000													45	97					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58895036	58895036	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58895036G>A	ENST00000354386.6	+	2	334	c.90G>A	c.(88-90)gtG>gtA	p.V30V	KIAA0586_ENST00000556134.1_Silent_p.V3V|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Silent_p.V18V	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	18										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGATGCCAGTGAAGAGACTTC	0.408000													14	43					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131306331	131306331	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:131306331C>T	ENST00000261653.6	-	3	274	c.108G>A	c.(106-108)gtG>gtA	p.V36V	STX2_ENST00000392373.2_Silent_p.V36V	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	36					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TAATCTCCTCCACCTAGGAGA	0.378000													20	22					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531486	89531486	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:89531486G>A	ENST00000329758.1	-	8	1499	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	TRIM49_ENST00000532501.2_Missense_Mutation_p.L314F	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	391	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGGTAAAGAGACTGCATTGA	0.423000													64	198					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66520180	66520180	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66520180C>T	ENST00000589228.1	+	5	592	c.464C>T	c.(463-465)tCg>tTg	p.S155L	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S155L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S155L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	155					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GCCATGTTTTCGGTCTCCTTT	0.418000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				53	190					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517545	123517545	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123517545G>A	ENST00000422452.2	-	30	7299	c.7236C>T	c.(7234-7236)ctC>ctT	p.L2412L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2405L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CAAAGGAGTAGAGGTTGAATG	0.378000													8	99					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68045978	68045978	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:68045978C>T	ENST00000329153.5	+	21	3109	c.2977C>T	c.(2977-2979)Cac>Tac	p.H993Y	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	993						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCCCTTCCACCACTCCTTGCC	0.637000													15	15					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521192	39521192	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39521192G>A	ENST00000251646.3	-	6	985	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	312	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTGCACCTGGGACAGCTGGG	0.597000													35	83					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237000	26237000	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:26237000C>T	ENST00000519902.1	-	0	2948																											TCTGGCTATACCACATCATCA	0.363000													17	38					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55340874	55340874	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55340874G>A	ENST00000371269.3	-	4	602	c.504C>T	c.(502-504)atC>atT	p.I168I	DHCR24_ENST00000535035.1_Silent_p.I127I|DHCR24_ENST00000537443.1_5'UTR	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	168	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTGTGCCCATGATCAAGCCCC	0.587000													41	64					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46584555	46584555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:46584555G>A	ENST00000242848.4	-	7	1022	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.P225L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	225	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGACGACTTCGGGCTTGATTT	0.428000													45	91					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83526040	83526040	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:83526040C>T	ENST00000549919.1	+	13	4170	c.2365C>T	c.(2365-2367)Ctc>Ttc	p.L789F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L795F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	795						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAATGGCAGACTCCAGAAGGC	0.507000													22	46					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147741367	147741367	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:147741367C>T	ENST00000513335.1	-	11	1288	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L	TTC29_ENST00000398886.4_Silent_p.L363L|TTC29_ENST00000325106.4_Silent_p.L337L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	337							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAAATTTTTTCAAGTATTTAA	0.343000													16	33					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610028	81610028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81610028G>A	ENST00000541158.2	+	11	1948	c.1626G>A	c.(1624-1626)atG>atA	p.M542I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.M542I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	542					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GTGCCATCATGGTTGGGGGCT	0.577000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						32	88					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56969561	56969561	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56969561G>A	ENST00000591790.1	-	4	1644	c.216C>T	c.(214-216)ccC>ccT	p.P72P	ZNF667_ENST00000292069.6_Silent_p.P72P|ZNF667_ENST00000504904.3_Silent_p.P72P|ZNF667_ENST00000342634.3_Silent_p.P165P			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTACCATCCAGGGTGCTTTCC	0.493000													27	47					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42264652	42264652	+	Silent	SNP	C	C	T	rs149336069		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42264652C>T	ENST00000361204.4	+	3	742	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	192	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGACATCCTCCCAGGTACAGC	0.582000													43	58					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564677	111564677	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111564677G>A	ENST00000393934.3	+	4	1446	c.876G>A	c.(874-876)ctG>ctA	p.L292L	PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGCTGGCACTGATCCCAGTTT	0.463000													52	95					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828753	115828753	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115828753A>G	ENST00000369512.2	-	3	832	c.664T>C	c.(664-666)Ttt>Ctt	p.F222L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	222					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|Ras protein signal transduction	endosome|Golgi lumen	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)	ATCCGGATAAACCGCCAGGCA	0.577000													10	112					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24727799	24727799	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24727799C>T	ENST00000206765.6	-	8	1363	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	414					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AAGTAGATGTCCATGGTAAGG	0.567000													24	47					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56076015	56076015	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56076015G>A	ENST00000394252.3	+	1	686	c.477G>A	c.(475-477)gaG>gaA	p.E159E		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	159							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TCCTGCAGGAGGTCCGGAGAG	0.627000													14	41					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843023	16843023	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:16843023G>A	ENST00000437538.2	-	4	590	c.582C>T	c.(580-582)ccC>ccT	p.P194P	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Silent_p.P240P|TNFRSF13B_ENST00000583789.1_Silent_p.P194P			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	240					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TCTCCTGCGTGGGCGCCCTGC	0.667000									IgA Deficiency, Selective				6	60					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102579963	102579963	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:102579963G>A	ENST00000249377.4	+	3	1140	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E287K|FBXL13_ENST00000393772.2_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	287					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCGACCCAAGGAATTTGAAGA	0.383000													9	160					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232477	81232477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81232477G>A	ENST00000599697.1	-	7	1332	c.1333C>T	c.(1333-1335)Cac>Tac	p.H445Y	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	445	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCACCAAGTGGACTGTAATG	0.567000													6	171					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639617	44639617	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44639617C>T	ENST00000372330.3	+	4	596	c.577C>T	c.(577-579)Cct>Tct	p.P193S		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	193					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ACACGCCTTTCCTCCTGGCCC	0.617000													37	120					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501019	21501019	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:21501019G>A	ENST00000313654.9	+	61	8284		c.e61+1		LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						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)	AGACCATTCGGTACACCTTTT	0.388000													15	34					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98935818	98935818	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98935818C>T	ENST00000262942.5	+	3	203	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448000													18	35					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402656	89402656	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:89402656G>A	ENST00000532352.1	+	0	893							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCTTTACTGGAAACTTTTCT	0.373000													34	71					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124153173	124153173	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124153173C>T	ENST00000360013.3	+	17	2970	c.2843C>T	c.(2842-2844)tCc>tTc	p.S948F	KALRN_ENST00000460856.1_Intron|KALRN_ENST00000240874.3_Missense_Mutation_p.S948F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	948					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGCCACTTCCTTGCAGAAG	0.607000													24	63					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885822	144885822	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144885822A>T	ENST00000356994.2	-	23	3415	c.3409T>A	c.(3409-3411)Tcc>Acc	p.S1137T	SCRIB_ENST00000377533.3_Missense_Mutation_p.S1056T|SCRIB_ENST00000320476.3_Missense_Mutation_p.S1137T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1137	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCACCTTGGAGATGAAGATG	0.716000													4	12					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302714	38302714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:38302714G>A	ENST00000399120.1	-	6	2246	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	HLCS_ENST00000336648.3_Missense_Mutation_p.P339L|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	339					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTTGGAGCTGGGAGGTAGTTC	0.403000													27	62					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81737086	81737086	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81737086C>T	ENST00000555447.1	-	7	2953	c.2541G>A	c.(2539-2541)gtG>gtA	p.V847V	STON2_ENST00000267540.2_Silent_p.V847V	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	847	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGATAGATCTCACGCTGGCTT	0.507000													70	169					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36306778	36306778	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36306778C>T	ENST00000373210.3	+	14	1982	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		CCTCGGTGTTCCAGCAGCCTG	0.488000													25	65					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2649684	2649684	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2649684C>T	ENST00000402050.2	+	22	2160	c.1976C>T	c.(1975-1977)tCt>tTt	p.S659F	IQCE_ENST00000438376.2_Missense_Mutation_p.S643F|IQCE_ENST00000325979.7_Missense_Mutation_p.S594F|IQCE_ENST00000404984.1_Missense_Mutation_p.S608F	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	659								p.S659C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCAGACCCCTCTCCCTCAGGG	0.602000													39	72					0	0	1	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471490	106471490	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106471490G>A	ENST00000390595.2	-	0	148																											AACCTTCACTGAGGCCCCAGG	0.577000													64	120					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826476	13826476	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:13826476G>A	ENST00000324750.3	+	1	934	c.712G>A	c.(712-714)Gtc>Atc	p.V238I		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	238					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCAGGGCGCGGTCACCGTCAC	0.612000													6	302					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389429	20389429	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20389429C>T	ENST00000315915.4	+	1	689	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCATTATTCTTGTTACAGT	0.403000													73	211					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387198	10387198	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:10387198C>T	ENST00000328655.3	+	2	376	c.336C>T	c.(334-336)tcC>tcT	p.S112S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.S112S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	112	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.S112S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GCTTATATTCCGAGGAGCTGT	0.592000													118	202					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544077	56544077	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56544077C>T	ENST00000390649.3	+	8	2377	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	793						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGCAGCATCCTGACAGAGCG	0.597000													11	111					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86087153	86087153	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:86087153G>A	ENST00000373125.4	+	12	1795	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	DACH2_ENST00000510272.1_Missense_Mutation_p.A380T|DACH2_ENST00000373131.1_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.A432T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTTGTATTCAGCCTGAAAGGT	0.338000													20	11					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40273713	40273713	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:40273713C>G	ENST00000416691.1	+	13	1342	c.1242C>G	c.(1240-1242)ttC>ttG	p.F414L	COG6_ENST00000455146.3_Missense_Mutation_p.F414L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	414					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AAAAAATATTCTTCAATAGCT	0.279000													6	68					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26650699	26650699	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26650699G>A	ENST00000527815.1	-	17	2108	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	AIM1L_ENST00000308182.5_Missense_Mutation_p.P516S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	516							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGCTTGGGGGTCGGCGACC	0.612000													39	99					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599315	29599315	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29599315G>A	ENST00000431530.3	+	1	568	c.510G>A	c.(508-510)aaG>aaA	p.K170K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	160						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGTTCCCAAGGATAAACTGG	0.517000													33	79					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118348798	118348798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:118348798C>T	ENST00000534358.1	+	5	3474	c.3451C>T	c.(3451-3453)Cga>Tga	p.R1151*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1151*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1151*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAAAGGACGTCGATCGAGGCG	0.512000													101	92					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404432	197404432	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197404432C>T	ENST00000367397.1	+	5	2440	c.1582C>T	c.(1582-1584)Ccc>Tcc	p.P528S	CRB1_ENST00000544212.1_Missense_Mutation_p.P628S|CRB1_ENST00000367399.2_Missense_Mutation_p.P1035S|CRB1_ENST00000367400.3_Missense_Mutation_p.P1147S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.P1123S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1147	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						CAACTCCAACCCCTGTTTGCA	0.428000													45	53					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237032685	237032685	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:237032685C>T	ENST00000409538.1	+	17	3625	c.3129C>T	c.(3127-3129)ttC>ttT	p.F1043F	AGAP1_ENST00000304032.7_Silent_p.F831F|AGAP1_ENST00000428334.2_Silent_p.F670F|AGAP1_ENST00000336665.5_Silent_p.F778F			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	831					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACGAGCGCTTCGTGCTCATGG	0.637000													21	71					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135798865	135798865	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135798865G>A	ENST00000298552.3	-	6	599	c.378C>T	c.(376-378)gtC>gtT	p.V126V	TSC1_ENST00000440111.2_Silent_p.V126V|TSC1_ENST00000403810.1_Silent_p.V126V|TSC1_ENST00000545250.1_Silent_p.V75V|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	126					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGAGGACAACGACGTCAGTGT	0.473000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				34	61					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589711	108589711	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:108589711C>T	ENST00000332082.4	+	3	920	c.102C>T	c.(100-102)ttC>ttT	p.F34F	WSCD2_ENST00000549903.1_Silent_p.F34F|WSCD2_ENST00000547525.1_Silent_p.F34F|WSCD2_ENST00000261400.3_Silent_p.F34F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	34						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCCTTGTCTTCCTTCACTCTG	0.607000													72	159					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175845	71175845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:71175845C>T	ENST00000333538.5	+	10	2234	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	534	Ricin B-type lectin.					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)				CTCCAAGAGTCGGCTGCCCCA	0.617000													33	104					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958676	54958676	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:54958676T>C	ENST00000273286.5	-	2	736	c.574A>G	c.(574-576)Aaa>Gaa	p.K192E	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.K116E|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	192	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGCCAGAGTTTAAGACCGAGC	0.473000													43	113					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18593566	18593566	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:18593566C>T	ENST00000379989.3	+	6	523	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R80C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	80	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GGAAGCATTTCGTCGGAGGGG	0.383000													8	150					0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656910	45656910	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45656910G>A	ENST00000407780.3	-	3	373	c.246C>T	c.(244-246)aaC>aaT	p.N82N	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Silent_p.N82N|ICOSLG_ENST00000400379.3_Silent_p.N82N			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	82	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TCAGGGCTCGGTTCCGGTAGC	0.572000													44	81					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222440	22222440	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22222440G>A	ENST00000374695.3	-	3	298	c.219C>T	c.(217-219)gaC>gaT	p.D73D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	73					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCTGCCCAGGTCCCCACTGC	0.567000													17	38					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667781	25667781	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25667781C>T	ENST00000382051.3	+	5	461	c.411C>T	c.(409-411)agC>agT	p.S137S	SLC34A2_ENST00000503434.1_Silent_p.S136S|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.S136S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	137					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCAGCAACAGCTCTATTATGT	0.502000			T	ROS1	NSCLC								5	173					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79373471	79373471	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79373471G>A	ENST00000264895.6	+	47	7166	c.6726G>A	c.(6724-6726)caG>caA	p.Q2242Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2241					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCAGACAGCCCCAGCTGG	0.468000													22	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544968	82544968	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544968C>T	ENST00000423517.2	-	7	12671	c.12334G>A	c.(12334-12336)Gaa>Aaa	p.E4112K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4112K|PCLO_ENST00000437081.1_Missense_Mutation_p.E832K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4043					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						ATTGGGTCTTCCTCCGCCTTC	0.458000													25	55					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298999	58298999	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:58298999T>C	ENST00000377918.3	+	4	3077	c.3051T>C	c.(3049-3051)ccT>ccC	p.P1017P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1017					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGTTAAACCTTATTTAAAAG	0.478000													43	90					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625936	142625936	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142625936G>A	ENST00000265310.1	-	6	960	c.612C>T	c.(610-612)atC>atT	p.I204I	TRPV5_ENST00000442623.1_Silent_p.I204I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	204					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)					TGGGCTGGAGGATGAGGATGT	0.567000													10	137					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189174	124189174	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124189174C>T	ENST00000357438.2	-	1	1010	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGACTGCCTTCCCCTAGTCAT	0.398000													37	44					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225942	21225942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21225942C>T	ENST00000233242.1	-	29	12479	c.12352G>A	c.(12352-12354)Ggg>Agg	p.G4118R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4118					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAATGGCCCCTTGATAAACC	0.498000													92	155					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17640885	17640885	+	Missense_Mutation	SNP	G	G	C	rs142509336		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:17640885G>C	ENST00000377813.1	-	3	571	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	RRBP1_ENST00000246043.4_Missense_Mutation_p.P90A|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.P90A|RRBP1_ENST00000377807.2_Missense_Mutation_p.P90A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	90					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTCACATTGGGGGCTGGATCA	0.517000													10	17					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122126	50122126	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50122126A>G	ENST00000374160.3	-	1	151	c.75T>C	c.(73-75)acT>acC	p.T25T	LRRC18_ENST00000298124.3_Silent_p.T25T|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	25						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCCCATCAAAAGTGATTTTGA	0.478000													4	87					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058021	46058021	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46058021C>T	ENST00000380095.1	+	1	749	c.687C>T	c.(685-687)ctC>ctT	p.L229L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	229						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GTGTTTCCCTCCTCTGCCGCC	0.682000													48	133					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66010216	66010216	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:66010216G>A	ENST00000443035.3	-	13	1922	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	DENND4A_ENST00000431932.2_Silent_p.F569F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	569	dDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAGGCCATGAAAAACAAAA	0.388000													3	12					0	0	1	0	0
MIR496	574454	broad.mit.edu	37	14	101526987	101526987	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101526987C>T	ENST00000385226.1	+	0	78					NR_030176.1																						GGCCAATCTCCTTTCGGTACT	0.527000													7	13					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621041	135621041	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135621041G>A	ENST00000356140.5	+	5	462	c.326G>A	c.(325-327)aGg>aAg	p.R109K	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.R51K|ACMSD_ENST00000283054.4_Missense_Mutation_p.R51K	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	109					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGCTACCCCAGGAGGTTCGTG	0.577000													49	74					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424922	69424922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69424922G>A	ENST00000333026.3	+	7	1080	c.980G>A	c.(979-981)gGc>gAc	p.G327D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	327					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTTGAATATGGCCTCCCTGAG	0.488000													6	25					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743311	16743311	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:16743311C>T	ENST00000381323.3	-	6	617	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	FAM49A_ENST00000355549.2_Missense_Mutation_p.E133K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E133K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	133						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGTAAAATTTCGGCAAACTCC	0.423000													27	77					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934312	176934312	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176934312C>T	ENST00000367654.2	-	9	1622	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	ASTN1_ENST00000367657.3_Missense_Mutation_p.D529N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D529N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D529N			O14525	ASTN1_HUMAN	astrotactin 1	537					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						AATATTTTATCAGAGGGCTGC	0.423000													56	147					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50212269	50212269	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:50212269C>T	ENST00000340813.6	-	2	478	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	CA10_ENST00000442502.2_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000285273.4_Intron|CA10_ENST00000570565.1_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			atacacagttcatcaggctct	0.557000													24	69					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320450	48320450	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48320450G>A	ENST00000376876.3	-	10	1557	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SLC38A5_ENST00000376875.1_Silent_p.L187L|SLC38A5_ENST00000317669.5_Silent_p.L238L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	238					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTTGGCTGGGGAGTCCCACGA	0.542000													18	8					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7344185	7344185	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7344185G>T	ENST00000266563.5	+	5	520	c.337G>T	c.(337-339)Gcc>Tcc	p.A113S	PEX5_ENST00000420616.2_Missense_Mutation_p.A113S|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000412720.2_Missense_Mutation_p.A134S|PEX5_ENST00000266564.3_Missense_Mutation_p.A113S|PEX5_ENST00000455147.2_Missense_Mutation_p.A113S|PEX5_ENST00000434354.2_Missense_Mutation_p.A128S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	113					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGCAGACTTGGCCTTGTCTGA	0.458000													5	71					0.217242	0.217279	1	1	0
ZNF573	126231	broad.mit.edu	37	19	38230841	38230841	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38230841G>A	ENST00000339503.4	-	8	877	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	ZNF573_ENST00000536220.1_Missense_Mutation_p.H96Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H97Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H96Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H184Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCACCAGTATGAAATCTTTGA	0.398000													64	108					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887263	9887263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:9887263C>T	ENST00000306084.6	+	2	986	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	TXNDC2_ENST00000357775.4_Nonsense_Mutation_p.Q196*|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	263	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAAGCCCATCCAGCCCAAGCT	0.587000													6	361					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067873	43067873	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43067873G>A	ENST00000267890.6	-	13	1566	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	486					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCAGAGCAGGGAGAATAGATT	0.438000													11	118					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77931932	77931932	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77931932C>T	ENST00000216479.3	+	6	772	c.612C>T	c.(610-612)atC>atT	p.I204I	AHSA1_ENST00000535854.2_Silent_p.I204I|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	204					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGTCAAAATCCCCACTTGTA	0.458000													36	81					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092826	27092826	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27092826C>T	ENST00000324856.7	+	9	3218	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	ARID1A_ENST00000457599.2_Silent_p.S949S|ARID1A_ENST00000374152.2_Silent_p.S566S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	949					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCATATTCCATGGGTGGAA	0.468000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	170					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170001	207170001	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207170001C>T	ENST00000374423.3	+	5	1135	c.749C>T	c.(748-750)tCg>tTg	p.S250L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	250							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						ACTTCATTTTCGTATCAGAAA	0.358000													15	29					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123092877	123092877	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123092877C>A	ENST00000466202.1	-	13	2872	c.2296G>T	c.(2296-2298)Ggt>Tgt	p.G766C	IQUB_ENST00000324698.6_Missense_Mutation_p.G766C			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	766										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCAATTTCACCATCATCAAGT	0.383000													24	60					2.44723e-14	2.46629e-14	1	1	0
RIMBP3	85376	broad.mit.edu	37	22	20457977	20457977	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:20457977G>A	ENST00000426804.1	-	1	3809	c.3325C>T	c.(3325-3327)Cct>Tct	p.P1109S		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATGGTCACAGGGAGCCAGCTG	0.602000													13	30					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120474	38120474	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38120474C>T	ENST00000406386.3	+	7	2166	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	637					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			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)					CCAGAGCCTCCTCTCCCAACA	0.577000													61	158					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176222	159176222	+	Silent	SNP	C	C	T	rs14525		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159176222C>T	ENST00000537147.1	+	3	1836	c.993C>T	c.(991-993)acC>acT	p.T331T	DARC_ENST00000368121.2_Silent_p.T333T|DARC_ENST00000368122.2_Silent_p.T331T			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	331					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATCTGGACACCCTTGGAAGCA	0.547000													12	651					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082781	111082781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111082781C>T	ENST00000360467.5	+	9	889	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	COL4A2_ENST00000462309.1_3'UTR	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	195	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGTCGGTTTCCAGGTAAGTTT	0.363000													32	51					0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20825329	20825329	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20825329G>A	ENST00000361443.4	-	3	290	c.53C>T	c.(52-54)tCc>tTc	p.S18F	SP8_ENST00000418710.2_Missense_Mutation_p.S36F	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	18	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GTCCGAGAGGGAGGAGGGAGA	0.597000													19	75					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234243682	234243682	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234243682G>A	ENST00000409110.1	+	11	1111	c.881G>A	c.(880-882)aGg>aAg	p.R294K	SAG_ENST00000449594.2_Missense_Mutation_p.R160K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	294					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AATCGAGAAAGGAGAGGCATT	0.527000													12	121					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576586	4576586	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:4576586G>A	ENST00000301396.4	-	15	2461	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	PELP1_ENST00000269230.7_Silent_p.P514P|PELP1_ENST00000574876.1_Silent_p.L602L|PELP1_ENST00000572293.1_Silent_p.L652L|PELP1_ENST00000436683.2_Silent_p.L455L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	602	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGGCTTGCAGGGCACAGGCA	0.622000													7	8					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1115874	1115874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1115874C>T	ENST00000335877.6	+	4	652	c.476C>T	c.(475-477)cCc>cTc	p.P159L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.P71L|PSMF1_ENST00000333082.3_Missense_Mutation_p.P159L|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.P159L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	159	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CGGGAGTTCCCCCCTGCTACC	0.577000													25	45					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082282	87082282	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87082282C>T	ENST00000265723.4	-	6	625	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E172K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E172K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E172K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E172K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	172	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTATTGAGTTCAGTGGTGTCG	0.368000													48	137					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917327	26917327	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:26917327C>T	ENST00000539517.2	-	5	1679	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	NOVA1_ENST00000267422.7_Silent_p.R332R|NOVA1_ENST00000465357.2_Silent_p.R430R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	457	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AGATCTGTATCCTTGCACCAG	0.433000													20	37					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963644	88963644	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88963644G>A	ENST00000333190.4	+	4	1957	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	450						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAAAGCAAGGATGGCCACAC	0.398000										HNSCC(36;0.09)			4	121					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578904	141578904	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141578904C>T	ENST00000442267.2	-	12	2058	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	662	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCATGCAGTCGTACAGCTGT	0.522000													64	132					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101801	9101801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:9101801G>A	ENST00000377414.3	-	5	681	c.614C>T	c.(613-615)aCt>aTt	p.T205I	SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377424.4_Intron	NM_001135585.1	NP_001129057.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	38					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAAGGGTAGTGGTGAAGGG	0.567000													19	32					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995880	36995880	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36995880G>A	ENST00000274963.8	+	16	2080	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	637	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAAGGCCATGGAGCGGGCGGC	0.687000													14	53					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112537580	112537580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112537580C>T	ENST00000230538.7	-	3	683	c.286G>A	c.(286-288)Gga>Aga	p.G96R	LAMA4_ENST00000431543.2_Missense_Mutation_p.G96R|LAMA4_ENST00000389463.4_Missense_Mutation_p.G96R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G96R|LAMA4_ENST00000522006.1_Missense_Mutation_p.G96R|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	96	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACACAGTATCCTGAGCCGTCC	0.463000													56	22					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091514	122091514	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122091514C>T	ENST00000334010.7	-	14	2626	c.2205G>A	c.(2203-2205)ggG>ggA	p.G735G	CADPS2_ENST00000449022.2_Silent_p.G734G|CADPS2_ENST00000412584.2_Silent_p.G731G|CADPS2_ENST00000313070.7_Silent_p.G731G	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	734					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGAAACAGTCCCAATTCCAT	0.274000													7	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179507021	179507021	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179507021G>A	ENST00000589042.1	-	219	40725	c.40501C>T	c.(40501-40503)Cgc>Tgc	p.R13501C	TTN_ENST00000359218.5_Missense_Mutation_p.R4561C|TTN_ENST00000591111.1_Missense_Mutation_p.R11860C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933C|TTN_ENST00000460472.2_Missense_Mutation_p.R4436C|TTN_ENST00000342175.6_Missense_Mutation_p.R4628C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11860	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R10933C(1)|p.R4436C(1)|p.R4628C(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)			AGTAATTTGCGAACTTTCTTT	0.323000													5	17					0	0	1	0	0
DNPH1	10591	broad.mit.edu	37	6	43194075	43194075	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43194075C>T	ENST00000393987.2	-	2	276	c.255G>A	c.(253-255)caG>caA	p.Q85Q	DNPH1_ENST00000230431.6_Silent_p.Q85Q	NM_199184.1	NP_954653.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		CGTCCGCCTGCTGCAGCCACT	0.622000													19	69					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053736	50053736	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:50053736T>A	ENST00000376042.1	+	6	2865	c.2567T>A	c.(2566-2568)tTt>tAt	p.F856Y	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F856Y			Q8WWL7	CCNB3_HUMAN	cyclin B3	856					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAAGCTCACTTTAAGGAAACT	0.537000													10	20					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149243470	149243470	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:149243470C>T	ENST00000407073.1	+	11	4002	c.3005C>T	c.(3004-3006)cCt>cTt	p.P1002L	MBD5_ENST00000404807.1_Missense_Mutation_p.P1235L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1002						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCACAATTCCTTGCCCAGCT	0.443000													48	86					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97964300	97964300	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:97964300G>A	ENST00000224337.5	-	12	1031	c.890C>T	c.(889-891)cCt>cTt	p.P297L	BLNK_ENST00000371176.2_Missense_Mutation_p.P274L|BLNK_ENST00000413476.2_Missense_Mutation_p.P297L|BLNK_ENST00000427367.2_Missense_Mutation_p.P297L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	297					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGGGCAGGAGGAAACACTGG	0.438000													28	104					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368665	101368665	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101368665C>T	ENST00000392979.3	+	6	856	c.495C>T	c.(493-495)agC>agT	p.S165S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Silent_p.S200S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	200						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTTCATGAGCAGGTTAGTAG	0.478000										HNSCC(74;0.22)			4	94					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980375	16980375	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16980375C>T	ENST00000379803.1	+	14	2021	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SIN3B_ENST00000595541.1_Silent_p.I227I|SIN3B_ENST00000248054.5_Silent_p.I637I	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	669					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCGCTCATCAGCTACTACG	0.637000													32	56					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45959713	45959713	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:45959713G>A	ENST00000453424.2	-	4	477	c.216C>T	c.(214-216)atC>atT	p.I72I	MARCH8_ENST00000395769.2_Silent_p.I72I|MARCH8_ENST00000319836.3_Silent_p.I72I|MARCH8_ENST00000395771.3_Silent_p.I72I			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	72						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TGGATGGCGTGATAGAAGTGC	0.532000													45	132					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47201090	47201090	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47201090G>A	ENST00000433867.1	-	9	1616	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	PRKD2_ENST00000291281.4_Missense_Mutation_p.P380L|PRKD2_ENST00000601806.1_Missense_Mutation_p.P223L|PRKD2_ENST00000600194.1_Missense_Mutation_p.P223L|PRKD2_ENST00000595515.1_Missense_Mutation_p.P380L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	380					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCTCATTAGGGGGATGTACCC	0.577000													56	121					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427503	97427503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97427503C>T	ENST00000377075.2	+	1	865	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	256	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTCAACACCTCCCTCACAATC	0.587000													37	129					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785943	12785943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12785943C>T	ENST00000332530.3	+	3	1049	c.823C>T	c.(823-825)Caa>Taa	p.Q275*	AADACL3_ENST00000359318.5_Nonsense_Mutation_p.Q345*	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	345							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCATTAGTTCAATTTGTAAA	0.493000													26	59					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845760	176845760	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176845760C>T	ENST00000367654.2	-	21	3413	c.3400G>A	c.(3400-3402)Gga>Aga	p.G1134R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G1126R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1126R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1126R			O14525	ASTN1_HUMAN	astrotactin 1	1134	Fibronectin type-III 1.				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						TTGTCCACTCCCCACAGCGTG	0.602000													6	69					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553106	106553106	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:106553106G>A	ENST00000369096.4	+	5	1305	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	PRDM1_ENST00000369089.3_Silent_p.G223G|PRDM1_ENST00000369091.2_Silent_p.G321G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	357					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		GCAGCCCTGGGAATACGGTGT	0.627000			"""D, N, Mis, F, S"""		DLBCL								5	125					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578286	124578286	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124578286C>T	ENST00000296181.4	-	3	460	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	55	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCGTGGGCTTCCGAAGTCCTA	0.557000													26	53					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463527	26463527	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26463527C>T	ENST00000256737.3	+	2	961	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	ANO3_ENST00000525139.1_Silent_p.L21L|ANO3_ENST00000537978.1_Silent_p.L21L|ANO3_ENST00000531646.1_Silent_p.L37L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	37						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGGAGATCCCTGCCTTGCCT	0.433000													7	254					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48306081	48306081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48306081G>A	ENST00000535759.1	-	4	477	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	TPRX1_ENST00000543508.1_Missense_Mutation_p.L63F|TPRX1_ENST00000322175.3_Missense_Mutation_p.L63F			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	63	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCCGCTGGAAGGATTCCCGAG	0.731000													9	20					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75563489	75563489	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75563489G>A	ENST00000299641.4	-	12	2586	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L	NDST2_ENST00000309979.6_Missense_Mutation_p.P662L	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	662	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGAAGGAACAGGGAAGAAATC	0.493000													12	290					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800683	70800683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:70800683C>T	ENST00000333538.5	+	2	1020	c.386C>T	c.(385-387)tCa>tTa	p.S129L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	129						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)				GAAAAAATTTCACTGGACCGT	0.502000													30	112					0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52710373	52710373	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52710373C>T	ENST00000452082.2	-	11	2295	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	NEK3_ENST00000339406.3_Silent_p.R351R|NEK3_ENST00000378101.2_Silent_p.R351R|NEK3_ENST00000400357.2_Silent_p.R334R			P51956	NEK3_HUMAN	NIMA-related kinase 3	351					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		AACTGGCTTTCCTCAGATGGA	0.398000													42	56					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3351207	3351207	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3351207G>A	ENST00000602557.1	-	12	1944	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	CSMD1_ENST00000602723.1_Silent_p.G463G|CSMD1_ENST00000537824.1_Silent_p.G462G|CSMD1_ENST00000400186.3_Silent_p.G463G|CSMD1_ENST00000539096.1_Silent_p.G462G|CSMD1_ENST00000542608.1_Silent_p.G462G|CSMD1_ENST00000520002.1_Silent_p.G463G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	463	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGTGTCATAGCCTCGCTCCA	0.463000													6	18					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337381	115337381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:115337381G>A	ENST00000337530.6	+	2	1317	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	KIAA1958_ENST00000536272.1_Missense_Mutation_p.E341K|KIAA1958_ENST00000374244.3_Missense_Mutation_p.E341K	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	341										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGCCTCTGAAGAGTTCCTGTC	0.552000													10	256					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34145214	34145214	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:34145214C>T	ENST00000348547.2	+	13	1168	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	ERGIC3_ENST00000357394.4_Missense_Mutation_p.S369L|ERGIC3_ENST00000447986.1_Missense_Mutation_p.S379L|ERGIC3_ENST00000279052.6_Missense_Mutation_p.S369L	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	364					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCATCGATTCGCTCATCTAC	0.557000													67	126					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47352981	47352981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47352981C>T	ENST00000285039.7	-	40	5706	c.5407G>A	c.(5407-5409)Gag>Aag	p.E1803K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E918K|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.E373K|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.E126K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1803	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATTCCGCTCTTGTAGTTGT	0.393000													5	134					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212274197	212274197	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212274197C>T	ENST00000366991.4	+	14	2179	c.1865C>T	c.(1864-1866)cCg>cTg	p.P622L	DTL_ENST00000542077.1_Missense_Mutation_p.P580L|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	622					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.P622L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCAGAGCCTCCGTCTCCTATC	0.478000													7	162					0	0	1	0	0
TRBJ2-3	28626	broad.mit.edu	37	7	142494556	142494556	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142494556C>T	ENST00000390415.1	+	0	26																											TATTTTGGCCCAGGCACCCGG	0.692000													9	11					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105855579	105855579	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:105855579C>T	ENST00000372548.4	+	1	378	c.269C>T	c.(268-270)cCt>cTt	p.P90L	CXorf57_ENST00000372544.2_Missense_Mutation_p.P90L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	90										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						GTGCCCAAGCCTCCCCTTTAT	0.547000													55	27					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106495	160106495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160106495G>A	ENST00000361216.3	+	19	2788	c.2699G>A	c.(2698-2700)gGa>gAa	p.G900E	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G900E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	900					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACAGCTATGGACAGGAGTGG	0.567000													41	93					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111773915	111773915	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111773915G>A	ENST00000445067.2	+	6	1099	c.329_splice	c.e6+1	p.G110_splice	CHI3L2_ENST00000369748.4_Splice_Site_p.G110_splice|CHI3L2_ENST00000369744.2_Splice_Site_p.G100_splice|CHI3L2_ENST00000466741.1_Splice_Site_p.G31_splice|CHI3L2_ENST00000524472.1_Splice_Site_p.G31_splice			Q15782	CH3L2_HUMAN	chitinase 3-like 2	110					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TGGTTCCAAAGGGTAAGACTA	0.348000													26	50					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306248	72306248	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72306248G>A	ENST00000579490.1	+	10	1746	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	DNAI2_ENST00000311014.6_Silent_p.E480E|DNAI2_ENST00000446837.2_Silent_p.E480E|DNAI2_ENST00000582036.1_Silent_p.E468E|DNAI2_ENST00000307504.5_Silent_p.E337E			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	480					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCTGCTGGAGGTCTCGCCTG	0.617000									Kartagener syndrome				37	94					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78531116	78531116	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:78531116C>T	ENST00000397909.2	+	19	4774	c.4601C>T	c.(4600-4602)tCg>tTg	p.S1534L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1534L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1357L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1534L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1534	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCAGTCATTCGGGCTCATTC	0.488000										HNSCC(70;0.22)			28	88					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373381	87373381	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87373381C>T	ENST00000327946.7	-	15	2469	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	GRID1_ENST00000536331.1_Missense_Mutation_p.G366E	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	795						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATCCAGGTCCCCTGTGTCCTG	0.627000										Multiple Myeloma(13;0.14)			54	88					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45088422	45088422	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:45088422C>T	ENST00000355387.2	+	4	1217	c.767C>T	c.(766-768)tCc>tTc	p.S256F	RNF220_ENST00000361799.2_Missense_Mutation_p.S256F|RNF220_ENST00000443020.2_Missense_Mutation_p.S17F|RNF220_ENST00000372247.2_Missense_Mutation_p.S256F			Q5VTB9	RN220_HUMAN	ring finger protein 220	256					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGCAAGAATTCCCTTCTGAAG	0.512000													29	76					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115423599	115423599	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115423599G>A	ENST00000369358.4	-	1	287	c.43C>T	c.(43-45)Cct>Tct	p.P15S	NRAP_ENST00000359988.3_Missense_Mutation_p.P15S|NRAP_ENST00000369360.3_Missense_Mutation_p.P15S|NRAP_ENST00000360478.3_Missense_Mutation_p.P15S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	15	LIM zinc-binding.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCTCGGCAGGATAAACCCCA	0.443000													47	100					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289149	107289149	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107289149G>A	ENST00000277216.3	-	1	341	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCATGCCAAGGAGGAAACATT	0.438000													61	155					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957894	121957894	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:121957894C>T	ENST00000379692.4	-	4	1758	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	411										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTAGGTTTTCCTCTAAGCTG	0.413000													51	194					0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50614976	50614976	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50614976A>C	ENST00000232854.4	+	6	1138	c.586A>C	c.(586-588)Atc>Ctc	p.I196L	HEMK1_ENST00000434410.1_Missense_Mutation_p.I196L|HEMK1_ENST00000455834.1_Missense_Mutation_p.I196L	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	196					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GGAAGCTGCTATCTCTCTGAC	0.493000													9	95					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107824959	107824959	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107824959G>A	ENST00000379028.3	-	21	2605	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F	NRCAM_ENST00000379024.4_Missense_Mutation_p.S693F|NRCAM_ENST00000425651.2_Missense_Mutation_p.S712F|NRCAM_ENST00000351718.4_Missense_Mutation_p.S696F|NRCAM_ENST00000413765.2_Missense_Mutation_p.S693F|NRCAM_ENST00000379022.4_Missense_Mutation_p.S712F			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	712	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACGTAAGGAGACAGCTTCAG	0.517000													28	75					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727789	35727789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35727789G>A	ENST00000440995.2	+	21	2912	c.2912G>A	c.(2911-2913)gGa>gAa	p.G971E	SPEF2_ENST00000356031.3_Missense_Mutation_p.G976E|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	976					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCTAAAGGAAAATCATCA	0.383000													22	103					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74130333	74130333	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:74130333G>A	ENST00000389156.4	-	5	498	c.408C>T	c.(406-408)ttC>ttT	p.F136F	FAM169A_ENST00000510496.1_Silent_p.F136F|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	136										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TATGACACAGGAATGGGATCT	0.393000													14	54					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390841	49390841	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49390841G>A	ENST00000421952.2	-	2	1839	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	606	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCCCGGCGTAGGGCCCTGGGG	0.736000													10	27					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32387754	32387754	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:32387754G>A	ENST00000265069.8	-	14	2502	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	800	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATCTCCTCGGAGAAGTAATC	0.383000													47	102					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161591	8161591	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:8161591C>T	ENST00000343202.4	-	2	339	c.274G>A	c.(274-276)Gga>Aga	p.G92R	RIC3_ENST00000419822.2_Missense_Mutation_p.G92R|RIC3_ENST00000425599.2_Missense_Mutation_p.G92R|RIC3_ENST00000309737.6_Missense_Mutation_p.G92R|RIC3_ENST00000539720.1_Missense_Mutation_p.G43R|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	92	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AGACCTCTTCCACTACCTCCT	0.458000													11	124					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78063677	78063677	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78063677G>A	ENST00000397545.4	+	17	2853	c.2826G>A	c.(2824-2826)agG>agA	p.R942R	CCDC40_ENST00000374877.3_Silent_p.R942R|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	942					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGATCCACAGGATGAAGGTGA	0.622000													18	51					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91617156	91617156	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91617156C>T	ENST00000375846.3	+	1	5736	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	S1PR3_ENST00000358157.2_Silent_p.H347H			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	347					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ATAGCAGCCACTCTCCGAAGG	0.587000													24	54					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321634	152321634	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152321634G>A	ENST00000243326.4	+	29	6083	c.5600G>A	c.(5599-5601)gGa>gAa	p.G1867E	RIF1_ENST00000444746.2_Missense_Mutation_p.G1867E|RIF1_ENST00000428287.2_Missense_Mutation_p.G1867E|RIF1_ENST00000430328.2_Missense_Mutation_p.G1867E|RIF1_ENST00000453091.2_Missense_Mutation_p.G1867E			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1867					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCGTGTTTAGGAGACTCGAAA	0.368000													9	120					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644302	20644302	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20644302C>T	ENST00000428453.1	-	0	3261																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCACCACCTCCTCCGCCAGT	0.627000													23	44					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39873083	39873083	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:39873083G>A	ENST00000502986.2	+	11	1467	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.D396N	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	396					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GAGTGTCAGGGATAAGACCTT	0.557000													54	112					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553624	19553624	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:19553624C>T	ENST00000409832.3	+	1	260	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	70										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACTGCTTCCCCTGGTGCAG	0.592000													131	381					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551763	100551763	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100551763G>A	ENST00000319509.7	+	1	514	c.514G>A	c.(514-516)Gcc>Acc	p.A172T						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCATCAACAGCCTTGAGCAC	0.488000													175	856					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292091	89292091	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89292091C>T	ENST00000495489.1	-	0	234																											AGGGGCTTTCCCTGGTTTTTG	0.507000													112	196					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	656342	656342	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:656342C>T	ENST00000255622.6	+	14	1810	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	PDE6B_ENST00000496514.1_Silent_p.A589A|PDE6B_ENST00000429163.2_Silent_p.A310A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	589					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGCCTTCGCCATGGTGACAG	0.612000													9	111					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558846	113558846	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:113558846G>A	ENST00000284601.3	-	1	274	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	69					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATCCAAAGGAATCAGCAAA	0.418000													39	159					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972728	92972728	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:92972728G>A	ENST00000523629.1	-	12	2011	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	RUNX1T1_ENST00000520724.1_Silent_p.G482G|RUNX1T1_ENST00000360348.2_Silent_p.G482G|RUNX1T1_ENST00000396218.1_Silent_p.G492G|RUNX1T1_ENST00000265814.3_Silent_p.G519G|RUNX1T1_ENST00000518844.1_Silent_p.G492G|RUNX1T1_ENST00000422361.2_Silent_p.G482G|RUNX1T1_ENST00000436581.2_Silent_p.G530G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	519					generation of precursor metabolites and energy	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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGCTTTACGGCCACAATTCC	0.458000													29	66					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76854505	76854505	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:76854505G>A	ENST00000491677.2	-	8	1455	c.913C>T	c.(913-915)Cct>Tct	p.P305S	DUSP13_ENST00000605915.1_Missense_Mutation_p.P198S|DUSP13_ENST00000478873.2_Missense_Mutation_p.P312S|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.P269S|DUSP13_ENST00000464872.1_Missense_Mutation_p.P125S|DUSP13_ENST00000372700.3_Missense_Mutation_p.P226S|DUSP13_ENST00000472493.2_Missense_Mutation_p.P176S	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	167						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCTGAGTTAGGGCAGATATTG	0.617000													23	50					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44938233	44938233	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44938233C>T	ENST00000296125.4	+	6	650	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	194					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)	GCTGCATTTCCCTGCTGACTG	0.493000													5	148					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409268	28409268	+	Missense_Mutation	SNP	G	G	A	rs34411482		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:28409268G>A	ENST00000337532.5	-	11	1018	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MPP7_ENST00000375719.3_Missense_Mutation_p.P248S|MPP7_ENST00000540098.1_Missense_Mutation_p.P248S|MPP7_ENST00000445954.2_Missense_Mutation_p.P123S|MPP7_ENST00000375732.1_Missense_Mutation_p.P248S	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	248	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCTTACATGGAATTGCCTTA	0.363000													38	125					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102134149	102134149	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:102134149C>T	ENST00000369138.1	+	6	1362	c.872C>T	c.(871-873)tCc>tTc	p.S291F	GRIK2_ENST00000318991.6_Missense_Mutation_p.S291F|GRIK2_ENST00000369134.4_Missense_Mutation_p.S242F|GRIK2_ENST00000421544.1_Missense_Mutation_p.S291F|GRIK2_ENST00000369137.3_Missense_Mutation_p.S291F|GRIK2_ENST00000413795.1_Missense_Mutation_p.S291F|GRIK2_ENST00000358361.3_Missense_Mutation_p.S291F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	291					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CAAGTCTCCTCCATCATTGAA	0.433000													30	54					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83350228	83350228	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83350228C>T	ENST00000261722.3	-	5	672	c.465G>A	c.(463-465)tcG>tcA	p.S155S	AP3B2_ENST00000535348.1_Silent_p.S123S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S155S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	155					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGACATGTCCGAGGCGGCTT	0.587000													11	52					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561106	41561106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41561106C>T	ENST00000400454.1	-	12	2893	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	806	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E806K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507000													36	87					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008220	120008220	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120008220C>T	ENST00000341846.5	-	1	941	c.520G>A	c.(520-522)Gac>Aac	p.D174N		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	174					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATGCAGGAGTCGCACAGCACC	0.667000													40	27					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61428764	61428764	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61428764G>A	ENST00000424789.2	+	11	1743	c.1739G>A	c.(1738-1740)aGg>aAg	p.R580K	TANC2_ENST00000389520.4_Missense_Mutation_p.R580K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	580							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTAACAGTTAGGACCAGTTTA	0.358000													19	39					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101059694	101059694	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101059694T>A	ENST00000360863.6	-	11	2014	c.1820A>T	c.(1819-1821)aAa>aTa	p.K607I	RGS22_ENST00000523437.1_Missense_Mutation_p.K595I|RGS22_ENST00000523287.1_Missense_Mutation_p.K426I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	607					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACCTACCCTTTCTCAATCAC	0.348000													4	99					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065609	35065609	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35065609G>A	ENST00000382002.5	-	10	1877	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S383F|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S383F|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	484					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	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)	GTCAGTCTCAGAATGGAAGCT	0.478000													8	191					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198504	15198504	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15198504C>T	ENST00000209540.2	+	1	714	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGGCACCAGCCCATTCTCCTG	0.537000													36	79					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72266771	72266771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72266771C>T	ENST00000550746.1	+	3	256	c.192C>T	c.(190-192)ctC>ctT	p.L64L	TBC1D15_ENST00000319106.8_Silent_p.L72L|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.L64L	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	64							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTAGTATTCTCTATGCTAGAA	0.303000													8	156					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122591357	122591357	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122591357C>T	ENST00000261038.5	+	8	1632	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	412					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTACCCAGTTCCAGAAGGAAT	0.348000													68	146					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792759	39792759	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:39792759T>A	ENST00000373272.2	+	12	1540	c.1135T>A	c.(1135-1137)Tac>Aac	p.Y379N	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y379N|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y379N	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	379	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCCAGTTATTTACCATGGGCA	0.587000													5	141					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52511700	52511700	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52511700G>A	ENST00000242839.4	-	18	3971	c.3815C>T	c.(3814-3816)tCc>tTc	p.S1272F	ATP7B_ENST00000417240.2_Missense_Mutation_p.S483F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S1194F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S1065F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S1161F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S1207F|ATP7B_ENST00000400370.3_Missense_Mutation_p.S842F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1272					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAAGGCCGGGGAGTCATTGAC	0.612000									Wilson disease				35	119					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100471	168100471	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168100471C>T	ENST00000409195.1	+	9	2658	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P857S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P635S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	682					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGAAGTTCCTGATGCAGA	0.363000													57	118					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836114	14836114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14836114G>A	ENST00000261170.3	-	4	609	c.473C>T	c.(472-474)aCc>aTc	p.T158I	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	158					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CATCAGCCTGGTTAAGGTTTC	0.413000													4	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468825	179468825	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179468825G>A	ENST00000589042.1	-	282	54813	c.54589C>T	c.(54589-54591)Cca>Tca	p.P18197S	TTN_ENST00000359218.5_Missense_Mutation_p.P9257S|TTN_ENST00000591111.1_Missense_Mutation_p.P16556S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15629S|TTN_ENST00000460472.2_Missense_Mutation_p.P9132S|TTN_ENST00000342175.6_Missense_Mutation_p.P9324S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16556	Ig-like 105.						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)			CCAGTAATTGGAGAGCCACCA	0.493000													86	183					0	0	1	0	0
STRA13	201254	broad.mit.edu	37	17	79980702	79980702	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79980702C>T	ENST00000392359.3	-	1	92	c.36_splice	c.e1+1	p.K12_splice	STRA13_ENST00000584347.1_Splice_Site_p.K12_splice|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site_p.K12_splice|STRA13_ENST00000580435.1_Splice_Site_p.K12_splice	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13	12					DNA repair	chromosome, centromeric region|Fanconi anaemia nuclear complex	DNA binding|protein binding					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCCTCACCTTCCGGAAGC	0.741000													7	24					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96617374	96617374	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:96617374C>T	ENST00000228741.3	+	2	356	c.30C>T	c.(28-30)ttC>ttT	p.F10F	RP11-394J1.2_ENST00000551844.1_RNA|ELK3_ENST00000552142.1_Silent_p.F10F	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	10					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTGGCAGTTCCTGTTGCAGT	0.547000													53	68					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369054	158369054	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158369054G>A	ENST00000334438.1	-	1	202	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTCAGAAAATGAAAGGATGAA	0.502000													39	41					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415489	10415489	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10415489G>A	ENST00000226207.5	-	13	1262	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	390	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATTTTGGAGATAGGCTGCC	0.453000													16	219					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234565919	234565919	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:234565919G>A	ENST00000040877.1	-	15	2522	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	841					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAGAGGAAAGGAAGCTTTCCA	0.577000													87	280					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32550901	32550901	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:32550901G>A	ENST00000360538.2	-	2	185	c.69C>T	c.(67-69)ccC>ccT	p.P23P	TOPORS_ENST00000379858.1_Intron	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	23	E3 ubiquitin-protein ligase activity.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTCCGAAGCGGGAGCAGGCG	0.706000													23	21					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590870	40590870	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40590870C>T	ENST00000260402.3	-	10	1139	c.890G>A	c.(889-891)gGg>gAg	p.G297E	PLCB2_ENST00000557821.1_Missense_Mutation_p.G297E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G297E	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	297					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTTCTCTGGCCCACAGAGAAA	0.582000													12	31					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657999	657999	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:657999G>A	ENST00000255622.6	+	17	2161	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	PDE6B_ENST00000496514.1_Silent_p.K706K|PDE6B_ENST00000429163.2_Silent_p.K427K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	706					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGACCCGGAAGGAGATCGTCA	0.617000													22	57					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46476446	46476446	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46476446C>T	ENST00000361297.2	+	10	1306	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	MAST2_ENST00000372008.1_Silent_p.S226S|MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	341					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTATTTCCTCCAACACTCCAG	0.507000													27	44					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115760572	115760572	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:115760572G>A	ENST00000264363.2	-	11	2926	c.2248C>T	c.(2248-2250)Cac>Tac	p.H750Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	750	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.H750N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTTCTATGTGGACTGCATAC	0.343000													58	84					0	0	1	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615584	115615584	+	Silent	SNP	G	G	A	rs150329225		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115615584G>A	ENST00000369516.2	-	2	145	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TSPAN2_ENST00000369515.2_Silent_p.F38F|TSPAN2_ENST00000369514.2_Silent_p.F38F	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	38						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		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)		TGGCACCTCCGAACCGAAACC	0.502000													20	39					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499935	59499935	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59499935G>A	ENST00000307144.4	+	1	894	c.796G>A	c.(796-798)Gat>Aat	p.D266N	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	266					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TCTGAACTCTGATATAGGAAC	0.428000													24	63					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822673	45822673	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45822673G>A	ENST00000177694.1	+	6	1760	c.1549G>A	c.(1549-1551)Gcc>Acc	p.A517T		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	517					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTGCTGGGGCCCCTTCTCC	0.512000													30	62					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84558987	84558987	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:84558987C>T	ENST00000286744.5	+	11	1423	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P400L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	400						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGGATCCCTGCCCATCA	0.413000													31	62					0	0	1	0	0
CORT	1325	broad.mit.edu	37	1	10510377	10510377	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:10510377G>A	ENST00000377049.3	+	1	602	c.97G>A	c.(97-99)Gag>Aag	p.E33K	APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000320498.4_Missense_Mutation_p.E83K|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3			cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|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)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCGAGACAGCGAGGTGAGTAC	0.652000													15	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024869	9024869	+	Silent	SNP	C	C	T	rs62118271		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9024869C>T	ENST00000397910.4	-	16	37196	c.36993G>A	c.(36991-36993)gaG>gaA	p.E12331E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12333	SEA 2.				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						AGGGGCCCAGCTCTTCAATGT	0.542000													84	175					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922197	159922197	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159922197C>T	ENST00000368093.3	-	3	635	c.519G>A	c.(517-519)ggG>ggA	p.G173G	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	173	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGTGCTATCCCCCCGGGAGA	0.572000													43	206					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5364278	5364278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5364278G>A	ENST00000225296.3	-	4	1030	c.830C>T	c.(829-831)tCc>tTc	p.S277F	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	277	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGGAAGACGGAGACAAGCGC	0.507000													50	110					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807170	146807170	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:146807170G>A	ENST00000508784.1	-	4	1634	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	ZNF827_ENST00000379448.4_Silent_p.I469I|ZNF827_ENST00000513320.1_Silent_p.I119I			Q17R98	ZN827_HUMAN	zinc finger protein 827	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGGGTCTGGGATCTCCTCCT	0.567000													6	62					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000													44	186					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640689	76640689	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:76640689C>T	ENST00000369950.3	-	15	2413	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	742					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCTCCCTTTCCCTGGAGGACC	0.527000													29	93					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449741	62449741	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:62449741C>T	ENST00000301998.4	+	2	638	c.386C>T	c.(385-387)tCa>tTa	p.S129L	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S129L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	129						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CGCAATTATTCACTGCTTATA	0.468000													22	289					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828781	115828781	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115828781G>A	ENST00000369512.2	-	3	804	c.636C>T	c.(634-636)acC>acT	p.T212T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	212					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|Ras protein signal transduction	endosome|Golgi lumen	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)	TGCCATCCATGGTCAGCGCCT	0.577000													23	88					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312569	34312569	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34312569C>T	ENST00000373381.4	-	6	1125	c.949G>A	c.(949-951)Gtt>Att	p.V317I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	277						integral to membrane|plasma membrane	protein binding	p.V277I(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCTGATAACGGGGGCTGGG	0.587000													16	49					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111454	57111454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57111454G>A	ENST00000454682.1	-	3	4141	c.3860C>T	c.(3859-3861)cCc>cTc	p.P1287L	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCGGGATTGGGGGCCCCTTT	0.657000			T	BCL6	NHL								53	85					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853499	12853499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12853499G>A	ENST00000332296.7	+	2	226	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCTTCATGGAGGCCTTCA	0.587000													91	177					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231267518	231267518	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231267518G>A	ENST00000415673.2	+	19	1736	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	SP140L_ENST00000243810.6_3'UTR|SP140L_ENST00000396563.4_3'UTR	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	292						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCCAGTATAAGGATTTTGGCC	0.358000													7	78					0	0	1	0	0
MRPL33	9553	broad.mit.edu	37	2	27997355	27997355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27997355C>T	ENST00000296102.3	+	3	167	c.106C>T	c.(106-108)Cga>Tga	p.R36*	MRPL33_ENST00000483992.1_Intron|MRPL33_ENST00000379666.3_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	36					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAAGAGAAACCGACTGCGGGA	0.458000													62	119					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78267074	78267074	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:78267074C>T	ENST00000370791.3	+	3	286	c.254C>T	c.(253-255)tCt>tTt	p.S85F	FAM73A_ENST00000443751.2_Missense_Mutation_p.S47F	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	85						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGTGCTATATCTGTAATTTTT	0.328000													23	72					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028062	170028062	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:170028062G>A	ENST00000284637.9	-	11	2775	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	812						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)		GCCTGGCGAGGAGGTGGAGCG	0.542000													50	72					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24864807	24864807	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:24864807C>T	ENST00000424834.2	+	11	3338	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	SPATA13_ENST00000382108.3_Silent_p.I955I|SPATA13_ENST00000399949.2_Silent_p.I252I|SPATA13_ENST00000382095.4_Silent_p.I330I|SPATA13_ENST00000409126.1_Silent_p.I190I|SPATA13_ENST00000343003.6_Silent_p.I274I			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	330					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCTTTGCCATCTATTCCGAGT	0.562000													46	128					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645678	51645678	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51645678G>A	ENST00000317643.6	+	1	121	c.52G>A	c.(52-54)Gga>Aga	p.G18R	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G18R|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.G18R	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	18					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGGGTGGAAGGACAGAAGAG	0.612000													21	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179532199	179532199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179532199G>A	ENST00000589042.1	-	161	35907	c.35683C>T	c.(35683-35685)Cct>Tct	p.P11895S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10034	Glu-rich.|Pro-rich.						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)			CTCTTTTTAGGAATAGTCACA	0.313000													12	26					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817891	26817891	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26817891G>A	ENST00000444914.3	+	4	1108	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SLC13A2_ENST00000545060.1_Missense_Mutation_p.E138K|SLC13A2_ENST00000314669.5_Missense_Mutation_p.E181K|SLC13A2_ENST00000537681.1_Missense_Mutation_p.E110K	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	181						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CGAGCTCCAGGAACCAAGTCC	0.592000													18	29					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107163713	107163713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:107163713C>T	ENST00000273980.4	-	13	1531	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	TBCK_ENST00000394706.3_Missense_Mutation_p.D323N|TBCK_ENST00000361687.4_Missense_Mutation_p.D299N|TBCK_ENST00000432496.2_Missense_Mutation_p.D362N|TBCK_ENST00000394708.2_Missense_Mutation_p.D362N			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	362						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTTTCACCATCCTCAAAGAGA	0.313000													23	47					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134010904	134010904	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:134010904C>T	ENST00000398844.2	+	6	1436	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	SEC24A_ENST00000322887.4_Missense_Mutation_p.P383L	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	383					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGTAACCCAGAGTAAGGC	0.398000													24	39					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47429093	47429093	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47429093G>A	ENST00000285039.7	-	21	2981	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	MYO5B_ENST00000324581.6_Silent_p.F35F	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	894	Arg-rich.|IQ 5.|IQ 6.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGAGCATCCGGAAGGCACACT	0.622000													29	70					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706750	26706750	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26706750G>A	ENST00000529632.2	+	7	1825	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	SEZ6L_ENST00000248933.6_Silent_p.E543E|SEZ6L_ENST00000402979.1_Silent_p.E316E|SEZ6L_ENST00000403121.1_Silent_p.E316E|SEZ6L_ENST00000343706.4_Silent_p.E543E|SEZ6L_ENST00000404234.3_Silent_p.E543E|SEZ6L_ENST00000360929.3_Silent_p.E543E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	543	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCGCATCGAGTTCACGTCCG	0.602000													74	124					0	0	1	0	0
SMDT1	91689	broad.mit.edu	37	22	42477947	42477947	+	Missense_Mutation	SNP	C	C	T	rs146799814		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42477947C>T	ENST00000331479.3	+	2	279	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		CGGCCTTCTCCGTGTGTTCTC	0.517000													28	94					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762656	53762656	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53762656A>G	ENST00000341702.3	+	1	1112	c.1028A>G	c.(1027-1029)aAt>aGt	p.N343S	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	343					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTCTTCGATAATTCCAGTTGG	0.468000													5	265					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420246	105420246	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105420246C>T	ENST00000333244.5	-	7	1661	c.1542G>A	c.(1540-1542)ggG>ggA	p.G514G		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	514						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGTCTCTTCCCTCGCTGTG	0.527000													7	147					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789908	21789908	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21789908C>T	ENST00000328843.6	+	55	8918	c.8887C>T	c.(8887-8889)Cat>Tat	p.H2963Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H2956Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2963	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGAAGTTCATGCTCTGGG	0.403000									Kartagener syndrome				5	13					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710476	140710476	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140710476C>T	ENST00000517417.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA1_ENST00000378105.3_Silent_p.F75F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGCTTTTCGCTCTGAATC	0.582000													96	195					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982673	58982673	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58982673C>T	ENST00000536459.2	+	4	1523	c.814C>T	c.(814-816)Ctc>Ttc	p.L272F	ZNF324_ENST00000196482.3_Missense_Mutation_p.L272F|ZNF324_ENST00000535298.1_Missense_Mutation_p.L49F			O75467	Z324A_HUMAN	zinc finger protein 324	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAGCTCCGACCTCCTCAAGCA	0.657000													24	62					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12475204	12475204	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12475204C>T	ENST00000358136.3	+	64	12225	c.12095C>T	c.(12094-12096)cCa>cTa	p.P4032L	VPS13D_ENST00000543766.1_Missense_Mutation_p.P30L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P4007L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4031					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTAGATCCATTCACTCGG	0.428000													35	74					0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107526551	107526551	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107526551G>A	ENST00000374762.3	+	1	101	c.30G>A	c.(28-30)aaG>aaA	p.K10K	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	10										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						GCCTGACCAAGGCGCTTGCCT	0.667000													3	4					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212118177	212118177	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212118177G>A	ENST00000366994.3	-	19	2654	c.2550C>T	c.(2548-2550)gtC>gtT	p.V850V	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.V801V|INTS7_ENST00000366992.3_Silent_p.V830V|INTS7_ENST00000366993.3_Silent_p.V836V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	850					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CATTCAGACAGACAGACTGAA	0.443000													93	121					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912693	77912693	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:77912693C>T	ENST00000321110.1	-	2	1520	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	409							nucleic acid binding|zinc ion binding	p.G409*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTCCATCTCCCTCTGCAGAG	0.527000													46	24					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673039	141673039	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141673039A>G	ENST00000547270.1	-	1	534	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGATGCAGGAGCAAAGAATA	0.478000													5	79					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041069	107041069	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107041069C>T	ENST00000409886.3	-	20	3441	c.3354G>A	c.(3352-3354)atG>atA	p.M1118I	RGPD3_ENST00000304514.7_Missense_Mutation_p.M1118I	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1118	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTTCAGGTTCATTGTAGTCG	0.408000													106	266					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452999	138452999	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138452999C>T	ENST00000344876.4	-	1	630	c.244G>A	c.(244-246)Gat>Aat	p.D82N	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D82N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	82	Cadherin 1.				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)					TCCCCATTATCCTCGTTTACT	0.433000													65	180					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584291	28584291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28584291G>A	ENST00000434452.1	-	13	2084	c.1930C>T	c.(1930-1932)Caa>Taa	p.Q644*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Q644*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	644	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTATATTCTTGAAATCCAGCA	0.343000													34	88					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251983	68251983	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:68251983G>A	ENST00000347230.4	-	19	3454	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1106S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1106					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACAGTGGAGGAGTCCTGGGC	0.572000													10	16					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415471	57415471	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57415471G>A	ENST00000313949.7	+	1	699	c.310G>A	c.(310-312)Gag>Aag	p.E104K	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E104K|GNAS_ENST00000371098.2_Missense_Mutation_p.E104K|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	117					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTAGAGTACGAGGAAGAGTT	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			66	110					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183773	11183773	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11183773G>A	ENST00000390675.2	-	1	233	c.162C>T	c.(160-162)tcC>tcT	p.S54S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	54					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AACCAACTCTGGAGACCGCCA	0.378000													64	133					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459263	89459263	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89459263T>A	ENST00000390256.2	-	0	377																											ATGACAGTAATACGTTGCAGC	0.488000													96	149					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212619	62212619	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:62212619G>A	ENST00000519846.1	+	3	705	c.233G>A	c.(232-234)aGa>aAa	p.R78K	CLVS1_ENST00000325897.4_Missense_Mutation_p.R78K|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	78					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCATCCTGAGATTTCTCCGA	0.463000													40	58					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233439	43233439	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43233439G>A	ENST00000327495.5	-	5	1263	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	PSG3_ENST00000595140.1_Missense_Mutation_p.P360L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	360	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTCTGCTGGTGGGTTAGAGTC	0.453000													107	255					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179531975	179531975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179531975G>A	ENST00000589042.1	-	162	36009	c.35785C>T	c.(35785-35787)Cct>Tct	p.P11929S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10072	Pro-rich.						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)			TCAGTTGGAGGATGTTCTGGA	0.338000													6	12					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28713945	28713945	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28713945C>T	ENST00000257197.3	-	13	2286	c.2025G>A	c.(2023-2025)atG>atA	p.M675I	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.M675I	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	675	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTTATCCTTCATTCTACACT	0.358000													47	98					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303381	53303381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53303381G>A	ENST00000438150.2	-	2	2451	c.1558C>T	c.(1558-1560)Cat>Tat	p.H520Y	ZNF28_ENST00000457749.2_Missense_Mutation_p.H573Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.H520Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.H520Y			P17035	ZNF28_HUMAN	zinc finger protein 28	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTCCAGTATGAATCCTCCTA	0.418000													67	160					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939768	22939768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22939768C>T	ENST00000397104.3	-	6	2562	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGGTTTCTCCCCAGTATGA	0.353000													26	60					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298258	107298258	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107298258G>A	ENST00000374781.2	-	1	879	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CGTAAAATATGATCACCACAG	0.428000													51	120					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675040	21675040	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:21675040C>T	ENST00000379499.2	-	1	1408	c.867G>A	c.(865-867)agG>agA	p.R289R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	289										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCTCCCGTGCCCTGCGCCCCC	0.692000													10	4					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364833	13364833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13364833C>T	ENST00000254508.5	-	34	4826	c.4744G>A	c.(4744-4746)Gga>Aga	p.G1582R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1582					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCTGTCTCCCACGGCAACA	0.587000													94	173					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49427134	49427134	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49427134G>A	ENST00000274813.3	-	2	173	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	16					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGCCTCAGGTAATGAGGT	0.438000													36	95					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511123	104511123	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:104511123G>A	ENST00000304883.2	-	5	1254	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	372						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGACACCAGCGAAATGCTCTC	0.448000													37	52					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878404	165878404	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:165878404C>T	ENST00000513876.2	+	1	305	c.230C>T	c.(229-231)tCc>tTc	p.S77F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	77																	CTCCACCAATCCTGGGAGAAG	0.582000													14	33					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122398590	122398590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122398590C>T	ENST00000288912.4	+	14	3087	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.R745*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	745							calcium ion binding	p.R745*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAAAGCATTCGAAGTCTCCT	0.488000													56	78					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236388415	236388415	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:236388415C>T	ENST00000354619.5	-	13	1278	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	359					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ACATGGATTTCTCATCAAAGT	0.393000													27	149					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47792709	47792709	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47792709G>A	ENST00000398545.4	-	1	183	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	22										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGCTTACCACGATCACCACTT	0.637000													8	246					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22328190	22328190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22328190C>T	ENST00000290122.3	+	1	42	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CELA3A_ENST00000374663.1_Missense_Mutation_p.S8F	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGCTCAGTTCCCTCCTCCTT	0.552000													94	258					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531327	42531327	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:42531327G>A	ENST00000282030.5	+	4	2318	c.2022G>A	c.(2020-2022)agG>agA	p.R674R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	674						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTCAAGAGGAAAAACATCT	0.463000									Schinzel-Giedion syndrome				33	86					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124090695	124090695	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124090695G>A	ENST00000368994.2	+	12	1262	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	BTBD16_ENST00000260723.4_Silent_p.K336K			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	336										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCCCAGGCAAGGATCTGGAGG	0.478000													31	89					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787384	8787384	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:8787384C>T	ENST00000343849.2	+	2	364	c.287C>T	c.(286-288)tCc>tTc	p.S96F	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.S96F	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	96	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCCTGCATCTCCTTCTGCCAC	0.582000													14	48					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48592750	48592750	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48592750G>A	ENST00000358350.4	-	17	2037	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	FRYL_ENST00000506685.1_Missense_Mutation_p.P184L|FRYL_ENST00000503238.1_Missense_Mutation_p.P478L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.P478L|FRYL_ENST00000507711.1_Missense_Mutation_p.P478L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTCCTGAGGGAAGAATAAC	0.363000													25	118					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880589	200880589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200880589C>T	ENST00000367342.4	+	9	1423	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	C1orf106_ENST00000413687.2_Missense_Mutation_p.S323F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	408										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGGTGGATTCCTTCCGGGCG	0.632000													37	514					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714114	49714114	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49714114C>T	ENST00000296456.5	+	8	1217	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	APEH_ENST00000438011.1_Missense_Mutation_p.R273C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	273					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTGGGCATCCGCTTTTGCAC	0.597000													37	45					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592791	158592791	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158592791T>A	ENST00000368148.3	-	43	6282	c.6102A>T	c.(6100-6102)aaA>aaT	p.K2034N	SPTA1_ENST00000368147.3_Missense_Mutation_p.K2031N|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2034					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)					GAGGCAGCTGTTTCTCCAGCA	0.448000													20	342					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219162	44219162	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44219162C>T	ENST00000371554.1	+	8	1345	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	HSP90AB1_ENST00000353801.3_Silent_p.I377I|HSP90AB1_ENST00000371646.5_Silent_p.I377I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	377					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|nitric-oxide synthase regulator activity|TPR domain binding|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)			CAGATTTTATCCGTGGTGTGG	0.458000													11	34					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055712	29055712	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:29055712C>T	ENST00000257189.4	+	16	2572	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	830					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGTGGGCTCCGTGGGTTGT	0.478000													25	78					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319298	37319298	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:37319298C>T	ENST00000373091.3	-	8	1146	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.R377Q|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	377					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAAAACAATTCGTCCAGTTAA	0.498000													22	46					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752445	62752445	+	RNA	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:62752445A>G	ENST00000331425.6	-	0	990					NR_003952.1																						TATGTCTAGTAAGGTTTGAGG	0.443000													6	39					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723666	28723666	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28723666G>A	ENST00000257197.3	-	8	1289	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S343L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	343	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATCCTCAAGTGAAATAGTAAT	0.338000													22	47					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834397	101834397	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101834397A>T	ENST00000506729.1	-	1	323	c.152T>A	c.(151-153)cTg>cAg	p.L51Q	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L51Q			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	51						integral to membrane|plasma membrane	transporter activity			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)		AAGTAGTCTCAGATACCGGTG	0.572000													155	313					0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41927172	41927172	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41927172G>A	ENST00000296812.2	+	2	303	c.247G>A	c.(247-249)Gga>Aga	p.G83R	FBXO4_ENST00000509134.1_Missense_Mutation_p.G83R|FBXO4_ENST00000281623.3_Missense_Mutation_p.G83R	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	83	F-box.				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.G83*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GTGTCAGTTGGGAAGTACAAA	0.373000													6	252					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72480250	72480250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72480250G>A	ENST00000360141.3	+	7	1173	c.885G>A	c.(883-885)gtG>gtA	p.V295V	CD300A_ENST00000361933.3_Silent_p.V99V|CD300A_ENST00000392625.3_Silent_p.V146V|CD300A_ENST00000577511.1_Silent_p.V165V|CD300A_ENST00000310828.5_Silent_p.V182V	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	295					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ATTACAGTGTGATAAGGAAGA	0.537000													35	92					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031946	79031946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79031946C>T	ENST00000446378.2	+	2	7389	c.7358C>T	c.(7357-7359)cCa>cTa	p.P2453L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2453						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGTTAGTCCAACTGAGAAG	0.368000													22	49					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135962298	135962298	+	RNA	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135962298A>G	ENST00000411440.2	+	0	805					NR_001275.2																						CTGAGAACCAACTTCCTGCGC	0.607000													12	30					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173867	126173867	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:126173867C>T	ENST00000339582.2	-	9	2377	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	GRM8_ENST00000358373.3_Silent_p.G523G|GRM8_ENST00000444921.2_Silent_p.G523G|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	523					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTTCCTCTCCCCTGGCTTAC	0.527000										HNSCC(24;0.065)			52	172					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50390963	50390963	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:50390963G>A	ENST00000434422.1	-	11	1205	c.904C>T	c.(904-906)Cca>Tca	p.P302S	RACGAP1_ENST00000427314.2_Missense_Mutation_p.P302S|RACGAP1_ENST00000547905.1_Missense_Mutation_p.P302S|RACGAP1_ENST00000312377.5_Missense_Mutation_p.P302S|RACGAP1_ENST00000454520.2_Missense_Mutation_p.P302S|RACGAP1_ENST00000551016.1_Missense_Mutation_p.P302S|RACGAP1_ENST00000547061.1_5'UTR			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	302					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTCCACATGGAACACAGGAT	0.408000													29	45					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6374623	6374623	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6374623G>A	ENST00000262483.8	-	12	1569	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.D458D	NM_031220.3	NP_112497.2																					GTGGCGGGCTGTCCCGGGAGC	0.662000													9	24					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696817	68696817	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68696817C>G	ENST00000255078.3	+	8	1338	c.1227C>G	c.(1225-1227)gtC>gtG	p.V409V		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	409	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCACCACAGTCTCTCACAAGT	0.657000													9	138					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196260	201196260	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201196260G>A	ENST00000335211.4	+	23	11167	c.11037G>A	c.(11035-11037)aaG>aaA	p.K3679K	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TATCCCCGAAGGACAGCGGGG	0.617000													18	54					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121644837	121644837	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:121644837C>T	ENST00000395601.3	-	4	1257	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.K281K	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	281	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGCTGAGTCCTTGCTCCTTA	0.537000													22	51					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061677	13061677	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13061677T>A	ENST00000014914.5	+	2	1384	c.494T>A	c.(493-495)tTt>tAt	p.F165Y	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	165						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTCAATGTCTTTTCTGAGCTT	0.502000													103	302					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012609	16012609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:16012609C>T	ENST00000350896.3	-	6	1059	c.862G>A	c.(862-864)Gga>Aga	p.G288R	MSR1_ENST00000262101.5_Missense_Mutation_p.G288R|MSR1_ENST00000381998.4_Missense_Mutation_p.G288R|MSR1_ENST00000445506.2_Missense_Mutation_p.G306R|MSR1_ENST00000536385.1_Missense_Mutation_p.G62R|MSR1_ENST00000355282.2_Missense_Mutation_p.G288R	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	288	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCACTTTCTCCAGTGGGACCT	0.398000													4	51					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84614615	84614615	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:84614615C>T	ENST00000262753.4	-	4	523	c.378G>A	c.(376-378)gtG>gtA	p.V126V	POF1B_ENST00000373145.3_Silent_p.V126V	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	126							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TAGTAAGTTTCACTGTTGGAG	0.323000													52	18					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461803	4461803	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:4461803G>A	ENST00000301395.3	-	3	952	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GGT6_ENST00000574154.1_Missense_Mutation_p.S330F|GGT6_ENST00000573591.1_Missense_Mutation_p.S182F|GGT6_ENST00000381550.3_Missense_Mutation_p.S336F	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGGCGCCCCGGAGCGCAGGGC	0.692000													9	14					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132559	8132559	+	Missense_Mutation	SNP	C	C	T	rs150709893	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:8132559C>T	ENST00000396677.2	-	3	309	c.310G>A	c.(310-312)Gga>Aga	p.G104R	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.G185R|RIC3_ENST00000309737.6_Missense_Mutation_p.G266R|RIC3_ENST00000539720.1_Missense_Mutation_p.G217R|RIC3_ENST00000343202.4_Missense_Mutation_p.G265R|RIC3_ENST00000335425.7_Missense_Mutation_p.G84R			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	266						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCTATCATTCCCATTCTTTCA	0.433000													10	101					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495472	94495472	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:94495472G>A	ENST00000375708.3	-	6	1067	c.869C>T	c.(868-870)cCc>cTc	p.P290L	ROR2_ENST00000375715.1_Missense_Mutation_p.P150L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	290	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCAGGCATGGGCAGCGCCTC	0.697000													9	19					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369728	7369728	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7369728G>A	ENST00000311403.4	-	3	732	c.393C>T	c.(391-393)gtC>gtT	p.V131V	ZBTB4_ENST00000380599.4_Silent_p.V131V	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	131	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGCTGCTGGGACTCCTGGCA	0.612000													14	20					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54040108	54040108	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54040108C>T	ENST00000185150.4	+	11	1255	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.S375F|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S321F	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	375	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GGGAAAACCTCTGTGGTTGTC	0.408000													26	61					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775237	100775237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100775237G>A	ENST00000223095.4	+	4	744	c.587G>A	c.(586-588)gGc>gAc	p.G196D	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G181D	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	196					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TACTTCAACGGCCAGTGGAAG	0.562000													88	365					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193435	62193435	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62193435C>T	ENST00000467148.1	-	10	6588	c.6519G>A	c.(6517-6519)caG>caA	p.Q2173Q	HELZ2_ENST00000427522.2_Silent_p.Q1604Q	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTGGTGGGCCCTGAATGACCG	0.647000													19	31					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120186101	120186101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120186101C>T	ENST00000260264.4	+	11	1140	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	POU2F3_ENST00000543440.2_Missense_Mutation_p.S367F	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	367	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCCCCCTCTCTGTCCCTCCT	0.438000													10	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050067	9050067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9050067C>T	ENST00000397910.4	-	5	31767	c.31564G>A	c.(31564-31566)Gaa>Aaa	p.E10522K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10524	Thr-rich.			L -> P (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10522K(1)|p.E6155K(1)		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						ATCATCATTTCTGTGGGGATT	0.507000													159	324					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122928132	122928132	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122928132A>G	ENST00000309934.4	+	1	964	c.68A>G	c.(67-69)gAt>gGt	p.D23G	SEC22A_ENST00000481965.2_Missense_Mutation_p.D23G|SEC22A_ENST00000492595.1_Missense_Mutation_p.D23G|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	23	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTTCTACTGATTATGAACAA	0.388000													46	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090366	9090366	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9090366G>A	ENST00000397910.4	-	1	1652	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	483	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						CTGTGGTTCTGAGCTCTCTTG	0.537000													59	95					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892893	166892893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166892893C>T	ENST00000423058.2	-	16	3111	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1004K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1021K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1032K|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1032						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAATAAATTCATATATTTTT	0.323000													24	50					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35684750	35684750	+	Silent	SNP	G	G	A	rs1136580		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35684750G>A	ENST00000378300.5	-	6	703	c.618C>T	c.(616-618)tcC>tcT	p.S206S	TPM2_ENST00000360958.2_Silent_p.S206S|TPM2_ENST00000329305.2_Silent_p.S206S|TPM2_ENST00000378292.3_Intron			P07951	TPM2_HUMAN	tropomyosin 2 (beta)	206					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCTCCAGGGATTTCAAGT	0.642000													39	94					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089304	57089304	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57089304C>T	ENST00000330619.8	+	6	2193	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.H503Y	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCAGAGAATTCATACTGGAGA	0.448000													32	81					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24231362	24231362	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:24231362C>T	ENST00000321728.7	+	17	2119	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	648	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATAAACTCTTCATCATGAACT	0.438000													4	104					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23524176	23524176	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23524176G>A	ENST00000305877.8	+	1	1780	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	BCR_ENST00000359540.3_Silent_p.E343E|BCR_ENST00000398512.5_Silent_p.E343E	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	343	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCAGCGAGGAGGACTTCTCCT	0.637000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								21	31					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959823	102959823	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102959823G>A	ENST00000311734.2	+	8	1257	c.918G>A	c.(916-918)ctG>ctA	p.L306L	IL1RL1_ENST00000409584.1_Silent_p.L292L|IL1RL1_ENST00000233954.1_Silent_p.L306L|IL1RL1_ENST00000404917.2_Silent_p.L189L			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	306	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTCTGGCCCTGAATTTGCATG	0.433000													52	115					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911521	46911521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46911521G>A	ENST00000378623.1	-	15	2308	c.2066C>T	c.(2065-2067)aCc>aTc	p.T689I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	689					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGGTGCAAGGTGTGGATGTC	0.527000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	92					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605261	7605261	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7605261C>T	ENST00000256861.6	-	14	2692	c.2614G>A	c.(2614-2616)Gga>Aga	p.G872R	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.G658R|ITIH5_ENST00000446830.2_Missense_Mutation_p.G654R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	872					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCCCCTCTCCCACCTGAAGG	0.572000													17	75					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485599	130485599	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130485599C>T	ENST00000373289.3	+	7	939	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	TTC16_ENST00000393748.4_Missense_Mutation_p.L111F|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	287							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACCCCAGTCTCTTCCTCTT	0.617000													23	51					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2291673	2291673	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2291673G>A	ENST00000381458.5	+	4	501	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	146					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCGTCTTTATGGGTAACCACG	0.488000													54	130					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33768858	33768858	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:33768858G>A	ENST00000530401.1	-	10	1062	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	FBXO3_ENST00000526785.1_Missense_Mutation_p.P240S|FBXO3_ENST00000448981.2_Missense_Mutation_p.P353S|FBXO3_ENST00000532057.1_Missense_Mutation_p.P40S|FBXO3_ENST00000534136.1_Missense_Mutation_p.P353S|FBXO3_ENST00000531080.1_Missense_Mutation_p.P40S|FBXO3_ENST00000265651.3_Missense_Mutation_p.P353S			Q9UK99	FBX3_HUMAN	F-box protein 3	353	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTGATGATTGGAAATTCACCT	0.343000													28	50					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728743	51728743	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51728743C>T	ENST00000262262.4	+	2	328	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.L103L|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	103	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAACTGCTCCCTGAGCATCGT	0.512000													45	99					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360950	107360950	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107360950T>A	ENST00000374779.2	-	1	838	c.745A>T	c.(745-747)Ata>Tta	p.I249L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGAATGTTATCACCACAGTC	0.428000													28	83					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734165	141734165	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141734165G>A	ENST00000475668.2	+	15	1827	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	MGAM_ENST00000549489.2_Silent_p.A591A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	591	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCCATGGCGGTCGCCACAG	0.433000													4	15					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649862	135649862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:135649862G>A	ENST00000520727.1	-	4	553	c.254C>T	c.(253-255)cCg>cTg	p.P85L	ZFAT_ENST00000429442.2_Missense_Mutation_p.P85L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P85L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P97L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCTCAGTCGGACTCACGAT	0.567000													52	105					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	622871	622871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:622871G>A	ENST00000588649.2	-	7	1489	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	469					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGGAAGGGGTAAAGTGAG	0.697000													8	17					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865347	109865347	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109865347G>A	ENST00000310903.5	+	19	1963	c.1857G>A	c.(1855-1857)cgG>cgA	p.R619R	MYO1H_ENST00000431443.2_Silent_p.R629R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGTGAGACGGGCTGGTTTTG	0.433000													120	240					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468522	56468522	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:56468522C>T	ENST00000288221.6	-	2	769	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	172						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AATTTGCTGTCCTTGATGTCT	0.478000													112	263					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329602	152329602	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152329602C>G	ENST00000388718.5	-	3	732	c.660G>C	c.(658-660)ggG>ggC	p.G220G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	220	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATACTCCTCCCCAGATTCCC	0.453000													133	191					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885064	88885064	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:88885064G>A	ENST00000319675.3	-	1	1232	c.1136C>T	c.(1135-1137)cCa>cTa	p.P379L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGCAGCCCTGGTGCTCCTCG	0.567000													37	71					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5776305	5776305	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5776305C>T	ENST00000381624.3	+	21	2136	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	692						integral to membrane											TTCTACATTTCGATCGTGGAT	0.587000													29	65					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079419	57079419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:57079419G>A	ENST00000316981.3	-	5	1365	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	PLAG1_ENST00000429357.2_Nonsense_Mutation_p.Q296*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.Q214*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	296	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGCATGGACTGAAATGGAGTG	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								91	163					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498994	142498994	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142498994C>T	ENST00000466254.1	+	0	270																											GCAGAACCCCCGCAACCACTT	0.627000													34	201					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312073	102312073	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102312073G>A	ENST00000561463.1	+	0	13441																											AAAGATCTTTGGAGAGAAGGA	0.597000													36	137					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124325969	124325969	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124325969G>A	ENST00000409039.3	+	29	4908	c.4883G>A	c.(4882-4884)cGg>cAg	p.R1628Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1628	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)		ATGGAGTTTCGGAAGATCTTG	0.453000													6	214					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909818	25909818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:25909818C>T	ENST00000398988.3	+	5	701	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	KSR1_ENST00000319524.6_Nonsense_Mutation_p.Q223*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.Q223*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.Q86*	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	221					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAACAGCGCCCAGGGCCCACG	0.687000													15	34					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911037	59911037	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59911037G>T	ENST00000396065.1	+	3	1048	c.600G>T	c.(598-600)tgG>tgT	p.W200C	GCNT3_ENST00000560585.1_Missense_Mutation_p.W200C	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	200					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGCCTCCTGGTCCAGGGTGC	0.483000													68	116					3.33906e-19	3.3714e-19	1	1	0
OCRL	4952	broad.mit.edu	37	X	128692637	128692637	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:128692637C>T	ENST00000371113.4	+	7	632	c.467C>T	c.(466-468)tCt>tTt	p.S156F	OCRL_ENST00000357121.5_Missense_Mutation_p.S156F|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	156					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GACAATTTTTCTTCTATGAAT	0.403000													6	63					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46939377	46939377	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46939377C>T	ENST00000449590.1	+	6	549	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	PTH1R_ENST00000418619.1_Silent_p.L116L|PTH1R_ENST00000313049.5_Silent_p.L116L|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Silent_p.L116L	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	116						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGACCACATCCTGTGCTGGCC	0.597000													18	49					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124096155	124096155	+	Silent	SNP	C	C	T	rs149843204		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124096155C>T	ENST00000368994.2	+	15	1664	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	BTBD16_ENST00000260723.4_Silent_p.I470I			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	470										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAAACCAGATCAAGCAGAAGT	0.517000													31	60					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902102	51902102	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:51902102G>A	ENST00000268919.4	+	1	1864	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	570					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G570R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGTCACATCGGAAATTCAGA	0.393000													43	79					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187118743	187118743	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187118743C>T	ENST00000378802.4	+	5	965	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	221					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CGAGTATGTCCGTGCAGTTTA	0.333000													33	69					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559951	33559951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:33559951G>A	ENST00000228567.3	-	3	1146	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.Q103*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	284	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACGCGGGTCTGAAATTTCTTT	0.358000													26	70					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532707	31532707	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31532707G>A	ENST00000215885.3	-	6	1530	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	426					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCCAGCTTGAAGCAGGTTG	0.577000													5	267					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065582	1065582	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:1065582G>A	ENST00000264930.5	-	18	2296	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	751					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGCTCATTAGGGACCGTATGT	0.652000													21	58					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070744	19070744	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19070744C>T	ENST00000421369.3	+	15	2262	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	TMC7_ENST00000569532.1_Silent_p.I678I|TMC7_ENST00000304381.5_Silent_p.I678I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	678						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCAGCCTCATCATGTTTTACT	0.463000													65	158					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57753914	57753914	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:57753914C>T	ENST00000281282.5	+	8	2305	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	743						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCAAGATCTGCTGATTGCCAA	0.493000													47	120					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21008626	21008626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21008626C>T	ENST00000261383.3	-	44	6579	c.6580G>A	c.(6580-6582)Gga>Aga	p.G2194R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2194	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCTTCCTCCCCCGGGGGGC	0.542000													7	140					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937765	116937765	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:116937765C>T	ENST00000265441.3	-	4	1053	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	252					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAGTGAAACCTGTGCCATCC	0.512000													69	128					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428713	139428713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:139428713C>T	ENST00000272641.3	-	2	680	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	192	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TCTGTTTTTTCATACTCAATG	0.493000													10	24					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285060	55285060	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55285060G>A	ENST00000336077.6	+	3	386	c.346G>A	c.(346-348)Gac>Aac	p.D116N	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D116N	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	116					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGACCCTCTGGA	0.527000													162	321					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260242	28260242	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:28260242C>T	ENST00000305242.5	-	8	1029	c.936_splice	c.e8-1	p.G313_splice	ARMC4_ENST00000239715.3_Splice_Site_p.G170_splice|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Splice_Site_p.G5_splice|ARMC4_ENST00000545014.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	313							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAGCTAATTCCCTTTATTTAA	0.393000													5	53					0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99126754	99126754	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99126754G>A	ENST00000253270.7	-	3	333	c.271C>T	c.(271-273)Cct>Tct	p.P91S	SLC35D2_ENST00000375259.4_Missense_Mutation_p.P91S|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Missense_Mutation_p.P91S	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	91						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	p.P91S(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCTTTACAGGAATTTTCTTA	0.338000													4	133					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224841	59224841	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59224841G>A	ENST00000300127.2	+	1	431	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGACCATGATGAGGAAAGAGG	0.498000													66	150					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126270860	126270860	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126270860C>T	ENST00000318225.2	-	3	573	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	65										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGATGGACCTCGTTGGCACCA	0.632000													7	90					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31340585	31340585	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31340585C>T	ENST00000544665.3	+	24	2903	c.2832C>T	c.(2830-2832)gcC>gcT	p.A944A	ITGAM_ENST00000287497.8_Silent_p.A943A	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	943					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTTCACGGCCTCAGAGAATA	0.537000													11	27					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728732	51728732	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51728732A>G	ENST00000262262.4	+	2	317	c.296A>G	c.(295-297)aAc>aGc	p.N99S	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.N99S|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	99	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCAGTAGGAACAACTGCTCC	0.498000													42	100					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108160018	108160018	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108160018C>T	ENST00000273353.3	-	24	2861	c.2805G>A	c.(2803-2805)tcG>tcA	p.S935S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	935						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCACCCTCTCCGACAGCTCCT	0.493000													54	81					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90764716	90764716	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:90764716G>A	ENST00000354366.3	-	8	1786	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	NRDE2_ENST00000357904.3_Silent_p.F287F	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		AGGGTTCAAAGAATTCCACCT	0.542000													25	69					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40125037	40125037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40125037G>A	ENST00000235628.1	-	6	862	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	288					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|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;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGGGCCCCGGAACTGGCTGC	0.607000													47	112					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958587	49958587	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:49958587C>T	ENST00000376056.2	-	5	900	c.750G>A	c.(748-750)gaG>gaA	p.E250E	AKAP4_ENST00000358526.2_Silent_p.E259E|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.E250E|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	259					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACTGATTCTCTCTTTGTTCC	0.483000													14	56					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376079	2376079	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2376079G>A	ENST00000301732.5	-	5	951	c.251C>T	c.(250-252)cCt>cTt	p.P84L	ABCA3_ENST00000567910.1_Missense_Mutation_p.P84L|ABCA3_ENST00000382381.3_Missense_Mutation_p.P84L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	84					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ACTGTGAGAAGGGATGTAGGC	0.622000													23	61					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459798	107459798	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107459798G>A	ENST00000409382.3	-	2	1246	c.636C>T	c.(634-636)gtC>gtT	p.V212V	ST6GAL2_ENST00000409087.3_Silent_p.V212V|ST6GAL2_ENST00000361686.4_Silent_p.V212V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	212					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTTGGAAGAGACGTTCCCCT	0.642000													25	48					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572698	38572698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38572698C>T	ENST00000222345.6	+	3	1002	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	165					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)			GGCCTTCCTCCCCCTTCGGCA	0.711000													7	124					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867060	34867060	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34867060C>T	ENST00000360581.1	+	5	654	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	NPSR1_ENST00000381539.3_Silent_p.L176L|NPSR1_ENST00000359791.1_Silent_p.L176L|NPSR1_ENST00000381542.1_Silent_p.L110L|NPSR1_ENST00000531252.1_Silent_p.L165L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	176						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTGTCTTTTCTGTTCTCCAT	0.532000													28	63					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31452973	31452973	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:31452973G>A	ENST00000373747.3	-	9	1392	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PUM1_ENST00000257075.5_Silent_p.I430I|PUM1_ENST00000373742.2_Silent_p.I371I|PUM1_ENST00000423018.2_Silent_p.I334I|PUM1_ENST00000440538.2_Silent_p.I431I|PUM1_ENST00000426105.2_Silent_p.I430I|PUM1_ENST00000373741.4_Silent_p.I466I|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000424085.2_Silent_p.I188I	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	430	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCGCTGATGATGTATGGAT	0.507000													20	30					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489406	124489406	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124489406G>A	ENST00000284288.2	+	4	821	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	252					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GCTAAGTGATGAGACCCATGT	0.473000													22	27					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882272	52882272	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52882272C>T	ENST00000330722.6	-	7	1332	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	422	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTGGCATCCTTGAGGGCC	0.577000													7	194					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37001446	37001446	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:37001446G>T	ENST00000566621.1	+	9	817	c.567G>T	c.(565-567)aaG>aaT	p.K189N	C15orf41_ENST00000567389.1_Missense_Mutation_p.K91N|C15orf41_ENST00000562877.1_Missense_Mutation_p.K91N|C15orf41_ENST00000569302.1_Missense_Mutation_p.K189N|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562489.1_Missense_Mutation_p.K13N|C15orf41_ENST00000437989.2_Missense_Mutation_p.K189N|C15orf41_ENST00000338183.4_Missense_Mutation_p.K91N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	189							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TTCGTGCAAAGGGTTATGACA	0.294000													10	28					2.80697e-09	2.82207e-09	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101654027	101654027	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:101654027C>T	ENST00000409318.1	-	8	1549	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	TBC1D8_ENST00000376840.4_Silent_p.Q458Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	458					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGCCTGACTGCTGGAAGGCGG	0.597000													4	122					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2381069	2381069	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:2381069G>A	ENST00000263092.5	-	3	366	c.239C>T	c.(238-240)cCc>cTc	p.P80L	METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	80							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GAGTCTCAAGGGAACTGTGGG	0.423000													69	125					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154244797	154244797	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:154244797C>T	ENST00000517876.1	+	4	639	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	CNOT8_ENST00000519404.1_Missense_Mutation_p.R55C|CNOT8_ENST00000403027.2_Missense_Mutation_p.R55C|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000285896.6_Missense_Mutation_p.R55C|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000524105.1_5'UTR|CNOT8_ENST00000521583.1_5'UTR			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	55					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTGAATTTCGTAGTTCCAT	0.413000													5	223					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215633991	215633991	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:215633991G>A	ENST00000260947.4	-	5	1494	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	BARD1_ENST00000449967.2_Missense_Mutation_p.P310S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	454					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAACATTTGGATCACTTCCA	0.323000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	51					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829399	3829399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:3829399G>A	ENST00000324333.10	-	9	2295	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L	GLIS3_ENST00000381971.3_Missense_Mutation_p.S856L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	701					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCCTCAAACGAAGGCACCAC	0.537000													27	24					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005823	57005823	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57005823G>A	ENST00000179765.5	-	7	1452	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S420F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S448F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S450F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	450					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AACTTCTGGAGAGATTTCTGG	0.542000													8	27					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39467023	39467023	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:39467023G>A	ENST00000265707.5	+	5	332	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ADAM18_ENST00000520772.1_Missense_Mutation_p.G96E|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G96E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	96					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTACCAAGGATATGCTGCC	0.328000													26	52					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1894899	1894899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1894899C>T	ENST00000412554.2	-	10	1038	c.844G>A	c.(844-846)Gat>Aat	p.D282N	MEIOB_ENST00000452149.2_Missense_Mutation_p.D282N|MEIOB_ENST00000325962.3_Missense_Mutation_p.D282N|MEIOB_ENST00000397344.3_Missense_Mutation_p.D282N|MEIOB_ENST00000470044.1_Missense_Mutation_p.D75N	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		TCAATTTCATCATCCAGAACA	0.289000													10	29					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70778477	70778477	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70778477G>A	ENST00000261776.5	-	13	1637	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	459					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGTCCTTCAGGATCACCTGGG	0.662000													4	42					0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462245	10462245	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10462245G>A	ENST00000381908.3	+	3	381	c.121G>A	c.(121-123)Gag>Aag	p.E41K	KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000381907.4_Missense_Mutation_p.E41K|KLRD1_ENST00000543777.1_Intron|KLRD1_ENST00000543420.1_Missense_Mutation_p.E41K|KLRD1_ENST00000350274.5_Missense_Mutation_p.E10K|KLRD1_ENST00000336164.4_Missense_Mutation_p.E41K			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	41					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	p.E41K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACTGAGTATTGAGCCAGCATT	0.313000													20	24					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507350	155507350	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155507350C>T	ENST00000302053.3	-	5	1309	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FGA_ENST00000403106.3_Missense_Mutation_p.G411S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	411					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAAATGTGCCCCAGTCTGGG	0.493000													65	140					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639386	97639386	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:97639386G>A	ENST00000298440.1	-	4	871	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	OXGR1_ENST00000543457.1_Missense_Mutation_p.P210S	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	210						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ATCACCAAGGGGAGGCAGAAA	0.473000													42	70					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39602722	39602722	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39602722T>A	ENST00000287152.7	-	5	506	c.412A>T	c.(412-414)Ata>Tta	p.I138L	KIF6_ENST00000373215.3_Missense_Mutation_p.I138L|KIF6_ENST00000373216.3_Missense_Mutation_p.I138L|KIF6_ENST00000538893.1_Missense_Mutation_p.I138L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	138	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTTGTATATATTTTGCTGCTG	0.363000													25	115					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230923295	230923295	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:230923295G>A	ENST00000354537.1	+	12	1550	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CAPN9_ENST00000271971.2_Missense_Mutation_p.E516K|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E453K|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	516	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)				ACCTGACCAGGAGACAGAGGA	0.498000													14	131					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653887	121653887	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121653887C>T	ENST00000393386.2	+	12	5198	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1596					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCCCACAGTCCCCAACATCA	0.468000													7	293					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078626	56078626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56078626C>T	ENST00000429804.2	-	9	2116	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	CTCFL_ENST00000502686.2_Missense_Mutation_p.G307E|CTCFL_ENST00000243914.3_Missense_Mutation_p.G569E|CTCFL_ENST00000433949.2_Missense_Mutation_p.G569E|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.G569E|CTCFL_ENST00000371196.2_Missense_Mutation_p.G569E	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	569					cell cycle|DNA methylation involved in gamete generation|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)			TTCCCCTGATCCACACTTCTC	0.527000													48	104					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105349666	105349666	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105349666C>T	ENST00000453495.1	+	8	1103	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CEP170B_ENST00000414716.3_Missense_Mutation_p.S291F|CEP170B_ENST00000418279.1_Missense_Mutation_p.S221F|CEP170B_ENST00000556508.1_Missense_Mutation_p.S221F					centrosomal protein 170B																		ACCAAGTTTTCCCTGCGCCAG	0.632000													10	29					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95662948	95662948	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95662948C>T	ENST00000298912.4	-	10	2708	c.2595G>A	c.(2593-2595)aaG>aaA	p.K865K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCCTTTTTTCCTTTTTTTTAC	0.403000													25	74					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7499219	7499219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7499219G>A	ENST00000250113.7	-	8	1088	c.754C>T	c.(754-756)Cag>Tag	p.Q252*		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	252	KH 1.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CGGGCCTGCTGGATGTTGGCA	0.547000													61	104					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48517148	48517148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48517148C>T	ENST00000358350.4	-	56	8438	c.7834G>A	c.(7834-7836)Gaa>Aaa	p.E2612K	FRYL_ENST00000507873.2_Missense_Mutation_p.E8K|FRYL_ENST00000503238.1_Missense_Mutation_p.E2612K|FRYL_ENST00000264319.7_Missense_Mutation_p.E8K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2612K	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2612					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.E2612K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGTAACTTTCAGGAGCTAGA	0.423000													55	124					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635532	200635532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200635532G>A	ENST00000447706.2	-	2	488	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	DDX59_ENST00000367348.3_Missense_Mutation_p.R113C|DDX59_ENST00000331314.6_Missense_Mutation_p.R113C			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	113						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCTCCATAACGACCACAGACA	0.453000													61	76					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450050	54450050	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54450050C>T	ENST00000566473.2	+	6	654	c.654C>T	c.(652-654)gtC>gtT	p.V218V	ANKFN1_ENST00000318698.2_Silent_p.V218V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	218										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACACACTGGTCCAGGAAGCCC	0.493000													52	173					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11536022	11536022	+	Splice_Site	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11536022T>C	ENST00000262442.3	+	8	1703		c.e8+2		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTTTAAGGTTTGTGTAAAT	0.468000													47	79					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457023	107457023	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107457023C>T	ENST00000318763.5	+	1	364	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GTTACACATCCTCATCCATTC	0.433000													119	241					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552601	43552601	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43552601G>A	ENST00000430334.3	-	4	921	c.788C>T	c.(787-789)tCc>tTc	p.S263F	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S174F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	263					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TAGGCTGCAGGACAGCTGGGA	0.557000													8	60					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145666421	145666421	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145666421G>A	ENST00000409379.3	-	8	968	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	313					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTGCTCACAGATGACCATGG	0.637000													51	132					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698335	17698335	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:17698335C>T	ENST00000353383.1	+	3	2542	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S	RAI1_ENST00000261641.6_Silent_p.S691S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	691						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGACCCTTCCGTGGCCTTCG	0.637000													30	93					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23458974	23458974	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23458974T>A	ENST00000299088.6	-	5	1490	c.1061A>T	c.(1060-1062)aAt>aTt	p.N354I	C14orf93_ENST00000397377.1_Missense_Mutation_p.N174I|C14orf93_ENST00000341470.4_Missense_Mutation_p.N354I|C14orf93_ENST00000406429.2_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.N354I	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	354						extracellular region		p.N354I(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ATCAGTGTAATTGTGGGGACT	0.453000													34	82					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323879	44323879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44323879C>T	ENST00000354250.2	+	3	826	c.757C>T	c.(757-759)Caa>Taa	p.Q253*	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	23					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GCCCAGATCTCAAGTAGATGA	0.398000													25	243					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604758	179604758	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179604758C>T	ENST00000589042.1	-	48	13426	c.13202G>A	c.(13201-13203)cGg>cAg	p.R4401Q	TTN_ENST00000359218.5_Missense_Mutation_p.R4163Q|TTN_ENST00000591111.1_Missense_Mutation_p.R4084Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.R4038Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4230Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4084	Ig-like 24.						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)			TTGCAAAGCCCGGCAGATTTG	0.478000													39	83					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61089479	61089479	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61089479G>A	ENST00000238497.5	-	1	217	c.14C>T	c.(13-15)tCg>tTg	p.S5L	VPS4B_ENST00000591519.1_Missense_Mutation_p.S5L	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	5	MIT.				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GAGGTTGGGCGAAGTGGATGA	0.657000													7	22					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508627	49508627	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:49508627G>A	ENST00000396029.3	-	5	3191	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	ADNP_ENST00000371602.4_Missense_Mutation_p.S875F|ADNP_ENST00000349014.3_Missense_Mutation_p.S875F|ADNP_ENST00000396032.3_Missense_Mutation_p.S875F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	875						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACTGTCTGAGGAACTGTCATC	0.398000													60	138					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49221976	49221976	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49221976G>A	ENST00000340334.7	-	4	565	c.197C>T	c.(196-198)cCa>cTa	p.P66L	FOLH1_ENST00000256999.2_Missense_Mutation_p.P81L|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.P66L|FOLH1_ENST00000356696.3_Missense_Mutation_p.P81L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	81					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGCTAAATGTGGTATCTGTGT	0.333000													17	40					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449643	91449643	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:91449643G>A	ENST00000266719.3	-	2	663	c.416C>T	c.(415-417)cCa>cTa	p.P139L		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	139					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TCTTGGCAATGGAGAAGGTAC	0.408000													48	131					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081084	95081084	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95081084C>T	ENST00000553947.1	+	5	1269	c.381C>T	c.(379-381)ggC>ggT	p.G127G	SERPINA3_ENST00000393078.3_Silent_p.G102G|SERPINA3_ENST00000393080.4_Silent_p.G102G|SERPINA3_ENST00000467132.1_Silent_p.G102G|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	102					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCTCAAAGGCCTCAAGTTCA	0.542000													38	76					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43969971	43969971	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:43969971G>A	ENST00000282406.4	+	22	3423	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1105	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCAAGGATGGAAATTCTTTC	0.413000													35	65					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7575639	7575639	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7575639G>A	ENST00000379802.3	+	18	2889	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	DSP_ENST00000418664.2_Missense_Mutation_p.D850N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	850	Globular 1.				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)		TCCACTTTATGATCTGGACTT	0.473000													60	213					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73786199	73786199	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73786199C>T	ENST00000264448.6	+	15	10422	c.10311C>T	c.(10309-10311)atC>atT	p.I3437I	ALMS1_ENST00000409009.1_Silent_p.I3395I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3437					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGGAGATCCATAGGAAGA	0.458000													29	49					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484516	60484516	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60484516G>A	ENST00000450662.2	+	10	1037	c.966G>A	c.(964-966)aaG>aaA	p.K322K	EFCAB3_ENST00000305286.3_Silent_p.K270K	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	270							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TAAGAATAAAGGAGCCTTTGC	0.348000													34	136					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933544	70933544	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70933544C>T	ENST00000430656.1	-	2	342	c.45G>A	c.(43-45)ggG>ggA	p.G15G	ADD2_ENST00000264436.3_5'UTR|ADD2_ENST00000355733.3_5'UTR|ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000473232.1_Intron|ADD2_ENST00000407644.2_5'UTR	NM_001185055.1	NP_001171984.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGCTCATTTTCCCGGTGGGTT	0.617000													43	79					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44064477	44064477	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:44064477A>G	ENST00000359947.4	+	13	2546	c.2206A>G	c.(2206-2208)Aag>Gag	p.K736E	PTPRF_ENST00000372413.3_Missense_Mutation_p.K736E|PTPRF_ENST00000372414.3_Missense_Mutation_p.K736E|PTPRF_ENST00000438120.1_Missense_Mutation_p.K736E|PTPRF_ENST00000422171.2_Missense_Mutation_p.K93E|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	736	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTCCCCAGCAAGCAGCATGG	0.642000													38	80					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723533	198723533	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:198723533C>T	ENST00000367376.2	+	32	3810	c.3639_splice	c.e32+1	p.F1213_splice	PTPRC_ENST00000442510.2_Splice_Site_p.F1215_splice|PTPRC_ENST00000352140.3_Splice_Site_p.F1165_splice|PTPRC_ENST00000348564.6_Splice_Site_p.F1054_splice|PTPRC_ENST00000594404.1_Splice_Site_p.F1052_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1213	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						TTTCCACATTCGTAAGTATCC	0.383000													50	104					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72939047	72939047	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:72939047C>T	ENST00000361138.5	+	17	2443	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	795					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTTCACAACTCCGTCTTACAG	0.318000													37	83					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48387941	48387941	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48387941C>G	ENST00000224600.4	-	1	3050	c.2937G>C	c.(2935-2937)gtG>gtC	p.V979V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	979	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGCTAGGGCCACTTCTGAGG	0.612000													7	165					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895751	40895751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40895751C>T	ENST00000291823.2	-	1	343	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	20	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCCGAAGGTCCCCTTGCCCAA	0.627000													36	77					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133160206	133160206	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:133160206G>A	ENST00000253861.4	+	8	1336	c.1307G>A	c.(1306-1308)aGg>aAg	p.R436K	EXOC4_ENST00000393161.2_Missense_Mutation_p.R436K|EXOC4_ENST00000539845.1_Missense_Mutation_p.R335K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	436					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAACCTCAAAGGCCAAAAAAT	0.373000													11	286					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177138133	177138133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:177138133C>T	ENST00000296525.3	-	6	811	c.698G>A	c.(697-699)tGg>tAg	p.W233*	ASB5_ENST00000512254.1_Nonsense_Mutation_p.W180*	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	233					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGAGTATCCCAATATTTGCC	0.383000													60	143					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417759	54417759	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54417759G>A	ENST00000391767.1	+	3	414	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG7_ENST00000222212.2_Missense_Mutation_p.E68K|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.E68K			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCCAGGTCGGGAGAAAGGTCG	0.557000													19	37					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436422	85436422	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:85436422G>A	ENST00000359152.5	-	1	2649	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P360S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P360S|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTTGGGGAGGGCTGGCCACA	0.478000													7	130					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468053	50468053	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50468053G>A	ENST00000331340.3	+	8	1443	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	IKZF1_ENST00000438033.1_Missense_Mutation_p.E343K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E287K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E343K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E343K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E200K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E388K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E388K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	430					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTCGCTCAAGGAGGAGCACCG	0.667000			"""D,T"""	BCL6	"""ALL, DLBCL"""								13	40					0	0	1	0	0
UTS2B	257313	broad.mit.edu	37	3	190993107	190993107	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:190993107C>T	ENST00000340524.5	-	8	1054	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UTS2B_ENST00000427544.2_Missense_Mutation_p.E90K	NM_198152.3	NP_937795.2			urotensin 2B																		TCCTTCTCCTCCACTAGCTGT	0.393000													48	108					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059088	248059088	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248059088C>T	ENST00000537741.1	+	3	457	c.200C>T	c.(199-201)tCc>tTc	p.S67F	OR2W3_ENST00000360358.3_Missense_Mutation_p.S67F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCACCTTTCCTTCCTGGAC	0.582000													151	150					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114804053	114804053	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:114804053G>A	ENST00000310346.4	-	8	1565	c.899C>T	c.(898-900)cCc>cTc	p.P300L	TBX5_ENST00000526441.1_Missense_Mutation_p.P300L|TBX5_ENST00000405440.2_Missense_Mutation_p.P300L|TBX5_ENST00000349716.5_Missense_Mutation_p.P250L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	300					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTCCTGGGAGGGGCCGGAAAC	0.562000													32	65					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385036	41385036	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41385036G>A	ENST00000400454.1	-	33	6441	c.5964C>T	c.(5962-5964)tcC>tcT	p.S1988S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1988				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGATTCTTGGGAGCTGCTCA	0.562000													14	53					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011549	160011549	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160011549C>T	ENST00000368089.3	-	2	1000	c.774G>A	c.(772-774)gtG>gtA	p.V258V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	258						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCATCTACCACATGATAGA	0.517000													48	113					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522352	113522352	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:113522352G>A	ENST00000284601.3	-	2	874	c.806C>T	c.(805-807)tCa>tTa	p.S269L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	269					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTTCTTCTGATGTTACTGA	0.269000													14	36					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806581	54806581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:54806581G>A	ENST00000306858.7	+	5	2928	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	938										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGTCGTTTTGAGCCGTTTTG	0.443000													47	120					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140269	96140269	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:96140269G>A	ENST00000453304.1	-	9	1844	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	UNC5C_ENST00000506749.1_Missense_Mutation_p.S518F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	499					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGACAGCTTGGACGTAAACTC	0.517000													37	144					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204095168	204095168	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:204095168C>T	ENST00000367204.1	+	14	1884	c.1775C>T	c.(1774-1776)tCg>tTg	p.S592L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	592					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGCACTCGGTGGCTGAT	0.607000													18	49					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626254	12626254	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12626254G>A	ENST00000425538.1	+	5	544	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.R115Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R19Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	115					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTGCTCTACGACCAGGGCCA	0.468000													50	144					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594787	55594787	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55594787C>T	ENST00000378397.1	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTGCTGTTCCTTCTCATCT	0.517000										HNSCC(27;0.073)			30	304					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93220198	93220198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:93220198C>T	ENST00000446394.1	+	3	383	c.283C>T	c.(283-285)Cca>Tca	p.P95S	HECTD2_ENST00000371681.4_Missense_Mutation_p.P95S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P95S			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	95					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AGAACCACCACCAATTTGCCT	0.343000													53	131					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100116863	100116863	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:100116863G>A	ENST00000375202.2	+	37	4499	c.3147G>A	c.(3145-3147)gaG>gaA	p.E1049E	CCDC180_ENST00000357054.1_Silent_p.E1020E|CCDC180_ENST00000529487.1_Silent_p.E1049E|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		TGTTTTCAGAGGGAGGCAACT	0.408000													7	128					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424513	125424513	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125424513C>T	ENST00000373686.1	+	1	669	c.669C>T	c.(667-669)gtC>gtT	p.V223V				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CCTCAAATGTCATCCATCACT	0.443000													139	241					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609545	108609545	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:108609545G>A	ENST00000264047.2	+	4	686	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G32E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G137E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	137					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCACTGATGGGAGAAATGTTC	0.443000													37	70					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617465	73617465	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:73617465G>A	ENST00000261917.3	-	6	2802	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	603					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGACGTCACGAAGTTGGGGT	0.562000													40	136					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159557732	159557732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159557732G>A	ENST00000255040.2	+	1	118	c.21G>A	c.(19-21)tgG>tgA	p.W7*		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	7					acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CGCTGCTTTGGATCTCTGTCC	0.507000													73	72					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470880	16470880	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:16470880G>A	ENST00000395824.1	-	2	783	c.166C>T	c.(166-168)Cca>Tca	p.P56S	ZNF287_ENST00000395825.3_Missense_Mutation_p.P56S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGGGTATGGAAAATTCCTA	0.458000													43	97					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696859	17696859	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:17696859C>T	ENST00000353383.1	+	3	1066	c.597C>T	c.(595-597)tcC>tcT	p.S199S	RAI1_ENST00000261641.6_Silent_p.S199S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	199	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACATTGCCTCCCCTCTGCCCT	0.647000													38	107					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796816	109796816	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:109796816C>T	ENST00000297459.3	-	2	690	c.512G>A	c.(511-513)gGg>gAg	p.G171E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	171					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TATAGACTTCCCTGAAGACGT	0.483000													30	82					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870820	51870820	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:51870820C>T	ENST00000371497.5	+	2	1710	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	TSHZ2_ENST00000329613.6_Silent_p.L272L|TSHZ2_ENST00000603338.2_Silent_p.L272L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	275					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCAAAAGGTTCTGAAATGTAT	0.438000													8	83					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136714332	136714332	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:136714332C>T	ENST00000329582.4	+	6	1008	c.759C>T	c.(757-759)ttC>ttT	p.F253F	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	253						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGCCACTGTTCGTCTGGAAAA	0.502000													141	300					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2255573	2255573	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2255573C>T	ENST00000378531.3	-	13	1433	c.1260G>A	c.(1258-1260)ggG>ggA	p.G420G		NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	420										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCGTGGCTCTCCCCTCAGGCC	0.672000													8	8					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116283548	116283548	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:116283548G>A	ENST00000410059.1	+	5	921	c.441_splice	c.e5+1	p.Q147_splice	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Splice_Site_p.Q97_splice|DPP10_ENST00000310323.8_Splice_Site_p.Q140_splice|DPP10_ENST00000393147.2_Splice_Site_p.Q151_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	147					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGTCAAACAGGTAAAGGAGT	0.348000													25	55					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004342	74004342	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74004342C>T	ENST00000301607.3	-	22	5197	c.4944G>A	c.(4942-4944)gaG>gaA	p.E1648E	EVPL_ENST00000586740.1_Silent_p.E1670E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1648	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGGTCCTTCTCGCGGAGGA	0.677000													8	123					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202065193	202065193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:202065193G>A	ENST00000374650.3	+	6	868	c.712G>A	c.(712-714)Gga>Aga	p.G238R	CASP10_ENST00000286186.6_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Intron			Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	238					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTTAAATGAAGGAGACCGTGG	0.488000													4	56					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802482	185802482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:185802482C>T	ENST00000302277.6	+	4	2953	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	787						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGTTTAAATCGACAGAATCA	0.368000													29	52					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969736	241969736	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241969736G>A	ENST00000310397.8	+	2	249	c.249G>A	c.(247-249)gaG>gaA	p.E83E	SNED1_ENST00000342631.6_Silent_p.E83E|SNED1_ENST00000401884.1_Silent_p.E83E|SNED1_ENST00000405547.3_Silent_p.E83E|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	83					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCCTGAAGGAGGTTTCTCAGT	0.632000													7	15					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5036244	5036244	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5036244G>A	ENST00000574788.1	+	13	2465	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	USP6_ENST00000250066.6_Missense_Mutation_p.E79K|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.E79K|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	79					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTGGATGGAAATGCTGGG	0.537000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								62	173					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31260195	31260195	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:31260195C>T	ENST00000579849.1	+	4	566	c.135C>T	c.(133-135)ccC>ccT	p.P45P	TMEM98_ENST00000394642.3_Silent_p.P45P|TMEM98_ENST00000578289.1_Silent_p.P45P	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	45						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CTTCCAGGCCCATTGTGGACC	0.532000													25	61					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066172	70066172	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70066172C>T	ENST00000446444.1	-	6	1584	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	526					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTCTTTTTCCCTTCTTCCCT	0.373000													35	85					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793100	46793100	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46793100T>G	ENST00000230588.4	+	8	657	c.648T>G	c.(646-648)ccT>ccG	p.P216P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	216	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACTACCAGCCTTTCTCATTTA	0.433000													32	108					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308926	205308926	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:205308926T>A	ENST00000367156.3	-	6	1203	c.387A>T	c.(385-387)gtA>gtT	p.V129V	KLHDC8A_ENST00000367155.3_Silent_p.V129V|KLHDC8A_ENST00000539253.1_Silent_p.V129V|KLHDC8A_ENST00000460687.1_5'UTR|KLHDC8A_ENST00000537168.1_Silent_p.V16V	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	129										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGCCGCATATACTCGGTAAT	0.567000													28	41					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53055572	53055572	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53055572C>T	ENST00000276480.7	-	17	2769	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	696						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)				AACTTTTTTTCCTCTAAATTT	0.413000													34	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068733	9068733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9068733G>A	ENST00000397910.4	-	3	18916	c.18713C>T	c.(18712-18714)tCc>tTc	p.S6238F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6240	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						TTGCAATGTGGAAGTTACAGG	0.483000													32	79					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50326709	50326709	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50326709G>A	ENST00000394697.2	+	5	1000	c.660G>A	c.(658-660)cgG>cgA	p.R220R	ADCY7_ENST00000538642.1_Silent_p.R220R|ADCY7_ENST00000537579.1_Silent_p.R220R|ADCY7_ENST00000254235.3_Silent_p.R220R|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Silent_p.R220R			P51828	ADCY7_HUMAN	adenylate cyclase 7	220					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGATCCGCCGGAAGCTGCGCA	0.597000													13	118					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730602	22730602	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:22730602C>T	ENST00000390296.2	+	0	125																											CTCTGCATCTCCTGGAGCATC	0.542000													36	101					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231808	7231808	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:7231808C>T	ENST00000383467.2	+	1	686	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	224										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCACTCCTTCCCGAGGTCGC	0.582000													51	70					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712253	95712253	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:95712253G>A	ENST00000524717.1	-	5	4614	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1110					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTGGCTGAGGAAGTCAAAAG	0.463000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								50	30					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754541	49754541	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49754541C>T	ENST00000304801.3	-	1	512	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	120					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGCGCAGGTTCTCCAGCAGGA	0.522000													43	161					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241850858	241850858	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:241850858C>T	ENST00000366552.2	+	7	1112	c.905C>T	c.(904-906)tCa>tTa	p.S302L	WDR64_ENST00000437684.2_Missense_Mutation_p.S302L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	302										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTAATCATTCATTAGTTTTG	0.318000													95	137					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134885528	134885528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134885528G>A	ENST00000607359.1	+	2	287	c.287G>A	c.(286-288)aGa>aAa	p.R96K				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R96K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TATTTGCAGAGACAGGCTCTT	0.667000													5	15					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614721	247614721	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247614721C>T	ENST00000318749.6	-	1	587	c.564G>A	c.(562-564)gtG>gtA	p.V188V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACAGCTTGATCACGGCCGGCA	0.582000													39	37					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70513961	70513961	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:70513961C>T	ENST00000260128.4	+	10	1675	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H320Y|SULF1_ENST00000402687.4_Missense_Mutation_p.H320Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H320Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	320					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCATGGTTACCATATTGGGCA	0.453000													82	187					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980064	6980064	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6980064C>T	ENST00000576617.1	-	5	609	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CLEC10A_ENST00000416562.2_Missense_Mutation_p.E114K|CLEC10A_ENST00000254868.4_Missense_Mutation_p.E114K|CLEC10A_ENST00000571664.1_Missense_Mutation_p.E114K			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	114					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCCTGCCGTTCCTGCTTGAAA	0.587000													8	400					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134271421	134271421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:134271421G>A	ENST00000414097.2	-	6	1246	c.379C>T	c.(379-381)Caa>Taa	p.Q127*	NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q127*|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Nonsense_Mutation_p.Q46*|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000522476.1_Nonsense_Mutation_p.Q61*|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	127					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAAACTGTTGAAGGACTCCA	0.532000			T	ERG	prostate								68	148					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852401	40852401	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40852401G>A	ENST00000254691.5	+	3	1166	c.967G>A	c.(967-969)Gga>Aga	p.G323R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	323					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAGTCCAGGAGACTTAGC	0.443000													24	67					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160637459	160637459	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160637459C>T	ENST00000504764.1	-	36	5179	c.5152G>A	c.(5152-5154)Gat>Aat	p.D1718N	LY75_ENST00000553424.1_Missense_Mutation_p.D1662N|CD302_ENST00000259053.4_Missense_Mutation_p.D77N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D1662N|CD302_ENST00000429078.2_Missense_Mutation_p.D77N|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.D1718N	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1586					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTCAAAGTATCCAGTATAAAA	0.358000													28	66					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427267	135427267	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135427267C>T	ENST00000394143.1	+	6	1693	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	GPR112_ENST00000412101.1_Missense_Mutation_p.P263S|GPR112_ENST00000287534.4_Missense_Mutation_p.P405S|GPR112_ENST00000394141.1_Missense_Mutation_p.P263S|GPR112_ENST00000370652.1_Missense_Mutation_p.P468S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	468					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCATCATTCCCACCTGAGCC	0.458000													44	21					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445730	27445730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27445730G>A	ENST00000337929.3	+	3	585	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	IL21R_ENST00000395754.4_Missense_Mutation_p.E38K|IL21R_ENST00000395755.1_Missense_Mutation_p.E38K|IL21R_ENST00000564089.1_Missense_Mutation_p.E38K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	38					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCATCCTGGAAATGTGGAA	0.622000			T	BCL6	NHL								37	47					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338044	99338044	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:99338044C>T	ENST00000307518.5	+	3	585	c.318C>T	c.(316-318)atC>atT	p.I106I	ANKRD2_ENST00000370655.1_Silent_p.I79I|ANKRD2_ENST00000298808.5_Silent_p.I106I|ANKRD2_ENST00000455090.1_Silent_p.I79I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	106					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGCGGGAGATCATCGATGTGG	0.677000													17	29					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179296779	179296779	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:179296779G>A	ENST00000356834.3	-	17	2818	c.2781C>T	c.(2779-2781)caC>caT	p.H927H	TBC1D9B_ENST00000444477.2_Silent_p.H85H|TBC1D9B_ENST00000355235.3_Silent_p.H927H|TBC1D9B_ENST00000519746.1_Silent_p.H103H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	927						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGGAAGGTGTAGCTTGT	0.622000													17	39					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155473	22155473	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22155473C>T	ENST00000397126.4	-	4	2511	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATTGCAGATCGGTTAAAAGC	0.368000													4	111					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379499	39379499	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:39379499C>T	ENST00000518318.2	+	5	812	c.770C>T	c.(769-771)tCc>tTc	p.S257F	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S257F|POU6F2_ENST00000559001.1_Missense_Mutation_p.S249F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	257	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cactcccactcccagaaccag	0.647000													16	27					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673462	125673462	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125673462T>A	ENST00000373659.3	-	2	978	c.890A>T	c.(889-891)tAt>tTt	p.Y297F		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CCTCAGTGAATAACCTTCCTC	0.438000													46	75					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692189	74692189	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74692189G>A	ENST00000334011.5	+	9	1763	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	515	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GTTGCCACCGGCGAATGCGTC	0.607000													76	107					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45429881	45429881	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:45429881G>A	ENST00000332700.6	-	2	591	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		tgctcagaaggaaaggtttgg	0.458000													10	14					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109273454	109273454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109273454G>A	ENST00000370017.3	+	9	2060	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R	FNDC7_ENST00000271311.2_Missense_Mutation_p.G596R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	596	Fibronectin type-III 7.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTGCCTCCTAGGATGCATCAC	0.463000													10	117					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56296055	56296055	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56296055G>A	ENST00000408946.2	-	3	367	c.216C>T	c.(214-216)acC>acT	p.T72T	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Silent_p.T71T|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	72					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCTGGATGGGGTGACAGGAG	0.527000													30	73					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478604	21478604	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:21478604C>T	ENST00000281523.2	-	5	1049	c.531G>A	c.(529-531)gtG>gtA	p.V177V	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	177	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTTTTTTCCACTTTAGAGG	0.468000													47	105					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689871	79689871	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:79689871C>T	ENST00000261205.4	+	7	1154	c.497C>T	c.(496-498)gCt>gTt	p.A166V	SYT1_ENST00000457153.2_Missense_Mutation_p.A163V|SYT1_ENST00000393240.3_Missense_Mutation_p.A166V|SYT1_ENST00000552744.1_Missense_Mutation_p.A166V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	166	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCATTCAGGCTGCCGAACTG	0.433000													42	61					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733706	92733706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92733706C>A	ENST00000379958.2	-	3	1974	c.1705G>T	c.(1705-1707)Gga>Tga	p.G569*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	569						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCCATTCCTTTGAGATCC	0.388000													78	150					6.86016e-32	6.94209e-32	1	1	0
TRBV6-4	28603	broad.mit.edu	37	7	142250773	142250773	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142250773C>T	ENST00000390360.3	-	0	294																											AGGGGGAAATCATCTGTGTTT	0.512000													72	166					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346273	102346273	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102346273C>T	ENST00000328882.4	+	1	372	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	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)			TGCTCATAGCCATGGCTTTTG	0.453000													111	257					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626521	107626521	+	Missense_Mutation	SNP	G	G	A	rs142924307		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107626521G>A	ENST00000393561.1	-	5	878	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	LAMB1_ENST00000393560.1_Missense_Mutation_p.R208C|LAMB1_ENST00000222399.6_Missense_Mutation_p.R208C			P07942	LAMB1_HUMAN	laminin, beta 1	208	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTAAAGCACGAAATATCACC	0.313000													20	82					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724859	38724859	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:38724859G>A	ENST00000342213.2	-	1	715	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	123	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTCGCTTTCGAGACCGCCGG	0.687000													13	23					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596032	97596032	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97596032C>T	ENST00000182096.4	+	1	214	c.150C>T	c.(148-150)tcC>tcT	p.S50S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAAATTCTTCCTTTACTATAT	0.383000													29	66					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129494	108129494	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108129494C>T	ENST00000273353.3	-	32	4547	c.4491G>A	c.(4489-4491)aaG>aaA	p.K1497K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1497						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CATAGGTGTTCTTGAGCTTGA	0.577000													46	97					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720095	140720095	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140720095C>T	ENST00000394576.2	+	1	1557	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCGCTCCTTTGATTATG	0.507000													57	135					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307601	54307601	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54307601G>A	ENST00000545554.1	+	1	2501	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	834					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R834Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGATTTCGGACATTATCT	0.438000													14	46					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421546	115421546	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:115421546C>T	ENST00000337530.6	+	4	1644	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	KIAA1958_ENST00000536272.1_Missense_Mutation_p.P478S	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	450										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATTTGAGATCCCTGCAGTGAA	0.532000													54	83					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111408297	111408297	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:111408297G>A	ENST00000535254.1	-	17	2036	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	BUB1_ENST00000409311.1_Missense_Mutation_p.R677C|BUB1_ENST00000302759.6_Missense_Mutation_p.R677C	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	677					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGCTCAGACGAAGTAAGGAT	0.502000													35	55					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581736	96581736	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96581736G>A	ENST00000456556.1	-	38	2525	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ACCTGTCCTAGATATTTCTCC	0.358000													4	4					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071544	240071544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240071544C>T	ENST00000255380.4	+	5	1572	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	265					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACCAAAGAGCTTGCTGGCCT	0.473000													18	103					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926403	157926403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157926403C>T	ENST00000389413.3	-	9	1625	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	PTPRN2_ENST00000404321.2_Missense_Mutation_p.E531K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E491K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E470K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E508K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	508						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGCGCCTCTTCCTCGGAAGGC	0.642000													47	122					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120481	46120481	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46120481G>A	ENST00000355105.3	-	6	1571	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	GPBP1L1_ENST00000290795.3_Silent_p.L71L	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGCGGAACAGGGAGGGCTGG	0.478000													16	33					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900882	130900882	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:130900882G>A	ENST00000310463.6	-	2	392	c.255C>T	c.(253-255)ctC>ctT	p.L85L	CCDC74B_ENST00000409943.3_Silent_p.L85L|CCDC74B_ENST00000409234.3_Silent_p.L85L|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409128.1_Silent_p.L127L	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	85										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCTTGTAACGGAGATCTGAAA	0.542000													35	91					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574225	98574225	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98574225C>T	ENST00000359863.4	+	54	8267	c.8058C>T	c.(8056-8058)atC>atT	p.I2686I	TRRAP_ENST00000355540.3_Silent_p.I2668I|TRRAP_ENST00000446306.3_Silent_p.I2668I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2686					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCGCCAATCCCCATCCGAC	0.602000													20	148					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349918	15349918	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15349918G>A	ENST00000263377.2	-	18	3955	c.3734C>T	c.(3733-3735)gCc>gTc	p.A1245V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1245					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCGTGCTCGGCCTGAGCCTT	0.672000			T	C15orf55	lethal midline carcinoma of young people								8	14					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305852	38305852	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:38305852C>T	ENST00000374618.3	+	3	241	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ZNF33A_ENST00000432900.2_Silent_p.F28F|ZNF33A_ENST00000469037.2_Silent_p.F21F|ZNF33A_ENST00000307441.9_Silent_p.F21F|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Silent_p.F21F	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	21	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTGTGGGCTTCACCCAGGAGG	0.473000													35	83					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436272	5436272	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5436272C>T	ENST00000380419.3	-	4	586	c.549G>A	c.(547-549)agG>agA	p.R183R	TUBAL3_ENST00000479328.1_Silent_p.R143R	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	183					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGTGGAGATCCTGGGGGCTG	0.537000													35	67					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170179	207170179	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207170179C>T	ENST00000374423.3	+	5	1313	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	309							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						TAGCAGTAAACCCGAATAAAA	0.373000													16	43					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3628396	3628396	+	Splice_Site	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:3628396T>C	ENST00000304921.5	+	7	673	c.507_splice	c.e7-1	p.V170_splice	RPS7_ENST00000406376.1_Splice_Site_p.V170_splice|RPS7_ENST00000403564.1_Splice_Site_p.V170_splice	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	170					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		TTCTTGTAGGTTGAAACTTTT	0.323000													21	40					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577949	101577949	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101577949C>T	ENST00000536262.2	-	8	1573	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	339					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAAAGTCCAGGAAGTCCT	0.353000													31	63					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911163	88911163	+	Silent	SNP	C	C	T	rs149664987		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:88911163C>T	ENST00000298786.4	+	3	166	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	FAM35A_ENST00000298784.1_Silent_p.L18L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	18										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATTGCTCCACTGAAAATCAC	0.343000													31	52					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170471	119170471	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119170471C>T	ENST00000264033.4	+	16	3077	c.2701C>T	c.(2701-2703)Cct>Tct	p.P901S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	901	Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATTTCTTCTCCTGCCCATGT	0.502000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				6	333					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28667705	28667705	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28667705C>T	ENST00000280904.6	-	6	1145	c.702G>A	c.(700-702)gaG>gaA	p.E234E	DSC2_ENST00000251081.6_Silent_p.E234E	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	234	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTTTCATCCTCTATTTTGA	0.343000													30	74					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109844596	109844596	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109844596C>T	ENST00000310903.5	+	9	1024	c.918C>T	c.(916-918)ctC>ctT	p.L306L	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.L306L			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACATGCAGCTCCTGGGGGTCC	0.433000													22	71					0	0	1	0	0
PRR15	222171	broad.mit.edu	37	7	29606113	29606113	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:29606113C>T	ENST00000319694.2	+	2	880	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	56					multicellular organismal development					endometrium(1)|lung(1)|skin(1)	3						CCAGCAGCTCCCGGGAGAACC	0.701000													4	27					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689628	26689628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26689628G>A	ENST00000272371.2	-	36	4580	c.4454C>T	c.(4453-4455)cCg>cTg	p.P1485L	OTOF_ENST00000339598.3_Missense_Mutation_p.P718L|OTOF_ENST00000402415.3_Missense_Mutation_p.P795L|OTOF_ENST00000338581.6_Missense_Mutation_p.P718L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1485L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1485	C2 4.				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)					GTCATTGCTCGGGATGCCCTG	0.612000													41	66					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83350243	83350243	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83350243G>A	ENST00000261722.3	-	5	657	c.450C>T	c.(448-450)atC>atT	p.I150I	AP3B2_ENST00000535348.1_Silent_p.I118I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.I150I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	150					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGCTTCCTTGATAGCTAGCA	0.577000													20	46					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100443831	100443831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100443831C>T	ENST00000514652.1	+	3	656	c.302C>T	c.(301-303)cCa>cTa	p.P101L	C4orf17_ENST00000326581.4_Missense_Mutation_p.P101L|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	101										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCGCCAGCCCCAAACGGTGCC	0.507000													42	56					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994787	994787	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:994787C>T	ENST00000537687.1	+	19	6240	c.5597C>T	c.(5596-5598)cCt>cTt	p.P1866L	WNK1_ENST00000530271.2_Missense_Mutation_p.P2104L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1606L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1359L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1199L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1606					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTGGTACAGCCTGTTGCCAAT	0.483000													84	154					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266997	18266997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:18266997G>A	ENST00000377369.2	+	5	1191	c.918G>A	c.(916-918)tgG>tgA	p.W306*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.W306*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.W306*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.W172*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	306					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGTTTCCTGGGATCAGGTAT	0.363000													42	73					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652156	15652156	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:15652156C>G	ENST00000262041.5	-	3	1180	c.771G>C	c.(769-771)aaG>aaC	p.K257N		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	257					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)		TCACCAGTTCCTTTTCCCGAG	0.512000													36	104					0	0	1	0	0
MIR519A1	574496	broad.mit.edu	37	19	54255701	54255701	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54255701G>A	ENST00000385257.1	+	0	51					NR_030218.1																						CTGAAAGAAAGGAAAGTGCAT	0.418000													66	131					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38518806	38518806	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38518806G>A	ENST00000352511.3	+	2	553	c.81G>A	c.(79-81)cgG>cgA	p.R27R		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	27					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTGAGACACGGGAGTGCATCT	0.637000													22	66					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157114	75157114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:75157114G>A	ENST00000342232.4	-	4	1595	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	519					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TCCTTCGTGGGAGCCTTTGAC	0.577000													42	102					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248959	36248959	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:36248959C>T	ENST00000315571.5	+	5	800	c.779C>T	c.(778-780)tCc>tTc	p.S260F	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.S211F|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.S250F	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	260						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCCTCCTACTCCGAGGCCTTG	0.582000													9	95					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104059595	104059595	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:104059595G>C	ENST00000265148.3	-	39	6305	c.6216C>G	c.(6214-6216)aaC>aaG	p.N2072K	CENPE_ENST00000380026.3_Missense_Mutation_p.N1951K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2072					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTACTTGGTGGTTCTGTCGGT	0.378000													58	159					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567502	136567502	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136567502G>A	ENST00000264162.2	-	8	2425	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	805	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.F805F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGGGCCTTCGAAGCCATCAA	0.448000													35	76					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24873168	24873168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:24873168G>A	ENST00000259698.4	-	4	452	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	FAM65B_ENST00000510784.2_Nonsense_Mutation_p.Q127*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.Q93*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.Q93*|FAM65B_ENST00000538035.1_Nonsense_Mutation_p.Q122*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	93	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGCTCCGTCTGGTGAACCTCC	0.418000													20	116					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981283	61981283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61981283G>A	ENST00000370263.4	-	5	1701	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	494					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGTCTCGGGGAACACAGTAC	0.701000													8	9					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70878099	70878099	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70878099G>A	ENST00000322773.4	+	39	2635	c.2533G>A	c.(2533-2535)Ggt>Agt	p.G845S	COL19A1_ENST00000393344.1_Missense_Mutation_p.G467S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	845	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						AGGGCCACCCGGTCCTCCTGT	0.373000													18	52					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68661433	68661433	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:68661433G>A	ENST00000328663.4	-	3	598	c.132C>T	c.(130-132)ttC>ttT	p.F44F	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.F44F|TAF9_ENST00000217893.5_Silent_p.F44F|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.F44L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TCACATATCGGAAGGCAAACT	0.418000													79	111					0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269711	5269711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5269711C>T	ENST00000330597.3	-	3	409	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	108					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACATTTCCCAGGAGCTGT	0.522000													6	41					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688625	26688625	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26688625G>A	ENST00000529632.2	+	2	544	c.348G>A	c.(346-348)aaG>aaA	p.K116K	SEZ6L_ENST00000248933.6_Silent_p.K116K|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.K116K|SEZ6L_ENST00000404234.3_Silent_p.K116K|SEZ6L_ENST00000360929.3_Silent_p.K116K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	116						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCCCCCCAAGAAGAAACTGC	0.647000													10	40					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991730	38991730	+	Missense_Mutation	SNP	C	C	T	rs146234630		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38991730C>T	ENST00000302328.3	-	1	322	c.124G>A	c.(124-126)Gac>Aac	p.D42N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D42N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D42N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D42N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	42					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)	CCTGTCTGGTCTTTAGACTTC	0.517000													84	155					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249075	7249075	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7249075C>T	ENST00000266542.4	-	6	1468	c.1376G>A	c.(1375-1377)gGc>gAc	p.G459D	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	459	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCCTATGCCCCAGGACAC	0.562000													38	72					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524403	37524403	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37524403G>A	ENST00000216223.5	-	10	1587	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	463					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGTCTCTGGGGACTCTTTCTT	0.677000													7	51					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19978276	19978276	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19978276G>A	ENST00000263207.3	-	3	333	c.42C>T	c.(40-42)gcC>gcT	p.A14A	ARVCF_ENST00000406259.1_Silent_p.A14A	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	14					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTTCACCGAGGCCAGGATGC	0.667000													8	14					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000317	16000317	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16000317G>A	ENST00000221700.5	-	7	929	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CYP4F2_ENST00000592328.1_Silent_p.L278L|CYP4F2_ENST00000011989.7_Silent_p.L129L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	278					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTGGCTAGGGAGAGTGCGGC	0.582000													22	142					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251278	171251278	+	Missense_Mutation	SNP	G	G	A	rs149030329	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171251278G>A	ENST00000354841.4	+	6	1120	c.989G>A	c.(988-990)gGa>gAa	p.G330E	FMO1_ENST00000367750.3_Missense_Mutation_p.G330E|FMO1_ENST00000402921.2_Missense_Mutation_p.G267E|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	330					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCACTGGATACACATTT	0.413000													60	144					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957240	35957240	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35957240C>T	ENST00000341959.2	-	1	911	c.856G>A	c.(856-858)Ggg>Agg	p.G286R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTCACCACCCCATAGAAAAGG	0.498000													67	109					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575018	120575018	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:120575018G>A	ENST00000300648.6	-	50	6781	c.6769C>T	c.(6769-6771)Ccg>Tcg	p.P2257S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2257					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTCTTCGGGAGGCAGAAT	0.607000													44	114					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179689405	179689405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:179689405C>T	ENST00000467460.1	-	2	400	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000465751.1_Intron|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.E24K|PEX5L_ENST00000472994.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	24					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			acaattatttcgaggtcttca	0.313000													11	19					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86406652	86406652	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:86406652G>A	ENST00000410111.3	-	3	600	c.213C>T	c.(211-213)ttC>ttT	p.F71F	IMMT_ENST00000449247.2_Silent_p.F71F|IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000409051.2_Silent_p.F71F|IMMT_ENST00000442664.2_Silent_p.F71F	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	71						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTTTCCCGGAAATGGGAAT	0.438000													16	27					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124358214	124358214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124358214G>A	ENST00000409039.3	+	45	7566	c.7541G>A	c.(7540-7542)gGa>gAa	p.G2514E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2514	AAA 3 (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)		CCACCCATGGGAAAACGCCTG	0.483000													6	21					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970914	123970914	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123970914C>T	ENST00000369005.1	+	9	7314	c.6974C>T	c.(6973-6975)cCc>cTc	p.P2325L	TACC2_ENST00000369004.3_Missense_Mutation_p.P403L|TACC2_ENST00000368999.1_Missense_Mutation_p.P403L|TACC2_ENST00000358010.1_Missense_Mutation_p.P471L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2280L|TACC2_ENST00000369001.1_Missense_Mutation_p.P29L|TACC2_ENST00000260733.3_Missense_Mutation_p.P403L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2325L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2329L|TACC2_ENST00000513429.1_Missense_Mutation_p.P471L|TACC2_ENST00000360561.3_Missense_Mutation_p.P403L|TACC2_ENST00000369000.1_Missense_Mutation_p.P29L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2329L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2325	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTGCTGAACCCAATGACATC	0.473000													13	233					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64734964	64734964	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:64734964C>T	ENST00000413366.3	+	11	1339	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	438	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TTTAAGGAACCACAAGCAGTG	0.438000													38	67					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964387	28964387	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:28964387T>A	ENST00000417404.1	+	0	4645				SMURF2P1_ENST00000578265.1_RNA																							AAATATTGGTTTTTTACTTAA	0.279000													10	18					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98987573	98987573	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98987573C>T	ENST00000451682.1	+	7	747	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ARPC1B_ENST00000252725.5_Silent_p.L146L			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	146					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCACCGTCCTCAGCCTGGACT	0.637000													80	412					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071975	9071975	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9071975G>T	ENST00000397910.4	-	3	15674	c.15471C>A	c.(15469-15471)acC>acA	p.T5157T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5159	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						CCACAGTGGTGGTGATAACCA	0.473000													108	208					1.67525e-54	1.697e-54	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46929776	46929776	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46929776G>A	ENST00000262738.3	-	1	3291	c.3292C>T	c.(3292-3294)Ccg>Tcg	p.P1098S	CELSR1_ENST00000395964.1_Missense_Mutation_p.P1098S|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1098	Cadherin 8.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCACAGGCGGGTTGTCATTC	0.612000													16	312					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17316257	17316257	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:17316257G>A	ENST00000452699.1	-	23	2712	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.V802V|ATP13A2_ENST00000326735.8_Silent_p.V846V	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	846					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGTGCCCTGGACCAGGACCT	0.657000													27	71					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21075427	21075427	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:21075427G>A	ENST00000395511.3	+	2	437	c.117G>A	c.(115-117)cgG>cgA	p.R39R	DHRS7B_ENST00000579303.1_Silent_p.R24R	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	39						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GCCTCTTCCGGCTGCTGCAGT	0.647000													15	37					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574576	98574576	+	Silent	SNP	C	C	T	rs141899953	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98574576C>T	ENST00000359863.4	+	55	8450	c.8241C>T	c.(8239-8241)tcC>tcT	p.S2747S	TRRAP_ENST00000355540.3_Silent_p.S2729S|TRRAP_ENST00000446306.3_Silent_p.S2729S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2747	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACTGGATTCCCTTGCGGAGC	0.473000													42	158					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891628	72891628	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72891628A>C	ENST00000339594.4	-	7	2501	c.2163T>G	c.(2161-2163)gaT>gaG	p.D721E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D721E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	721					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTACCTCATTATCCTCAAATG	0.478000													46	154					0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175581995	175581995	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:175581995G>A	ENST00000515403.1	-	0	2080				RP11-826N14.4_ENST00000510029.1_lincRNA	NR_036494.1																						GAAGCCACAGGCTATGGCCCT	0.582000													6	19					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919338	54919338	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:54919338C>T	ENST00000474759.1	+	22	1991	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S554F|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S648F|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S648F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	648						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCGATGTGTCCTTGGCAGAT	0.483000													27	74					0	0	1	0	0
CLEC18C	283971	broad.mit.edu	37	16	70211273	70211273	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:70211273G>A	ENST00000569347.2	+	3	600	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLEC18C_ENST00000536907.2_Missense_Mutation_p.G116S|CLEC18C_ENST00000314151.8_Missense_Mutation_p.G116S|CLEC18C_ENST00000541793.2_Missense_Mutation_p.G116S|CLEC18C_ENST00000561612.1_Intron	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						GCTGCCCGCGGGCTTGGCGTC	0.657000													23	92					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14863874C>T	ENST00000380881.4	-	4	1077	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	FREM1_ENST00000422223.2_Missense_Mutation_p.E88K|FREM1_ENST00000380880.3_Missense_Mutation_p.E88K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	88					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E88K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413000													18	12					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178682626	178682626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:178682626C>T	ENST00000286063.5	-	8	1920	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	PDE11A_ENST00000409504.1_Missense_Mutation_p.D177N|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.D177N|PDE11A_ENST00000358450.4_Missense_Mutation_p.D285N|PDE11A_ENST00000389683.3_Missense_Mutation_p.D91N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	535	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			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)			GGTTTCCCATCAAGTCTGTTT	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	45					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160679587	160679587	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:160679587G>A	ENST00000498165.1	+	2	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_5'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.E28K|PPM1L_ENST00000497343.1_Missense_Mutation_p.E155K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	155	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGGACTACGAGAAAGACAA	0.393000													21	66					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21830355	21830355	+	Splice_Site	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21830355C>A	ENST00000216297.2	-	15	2132		c.e15+1			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGGGACTCACATTTCCTTGA	0.428000													14	48					1.05317e-09	1.05911e-09	1	1	0
MMP19	4327	broad.mit.edu	37	12	56230950	56230950	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56230950G>A	ENST00000394182.1	-	4	538	c.539C>T	c.(538-540)tCc>tTc	p.S180F	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S466F|MMP19_ENST00000548629.1_Missense_Mutation_p.S443F			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	466					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CCAGTTGTGGGAAATATTTCT	0.517000													80	199					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103293055	103293055	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103293055G>A	ENST00000428762.1	-	14	1865	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F	RELN_ENST00000424685.2_Missense_Mutation_p.S569F|RELN_ENST00000343529.5_Missense_Mutation_p.S569F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	569					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATCATGTGAGACATTGTAGA	0.413000													66	164					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170048418	170048418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170048418G>A	ENST00000263816.3	-	48	9241	c.8956C>T	c.(8956-8958)Cag>Tag	p.Q2986*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2986	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGCAATTCTGATTCTCATCG	0.463000													53	82					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63749865	63749865	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:63749865C>T	ENST00000316754.3	+	4	891	c.429C>T	c.(427-429)acC>acT	p.T143T	RHOJ_ENST00000555125.1_Silent_p.T143T	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	143					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACCCAAAAACCTTGGCCCGTT	0.398000													23	58					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105660897	105660897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:105660897G>A	ENST00000542731.1	+	13	1840	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.D578N|CDHR3_ENST00000478080.1_Missense_Mutation_p.D490N|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	578	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTCCCAGTGGATCTGAAAGT	0.433000													49	89					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30667535	30667535	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30667535C>T	ENST00000542965.2	+	11	2117	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	PRR14_ENST00000300835.4_Missense_Mutation_p.P554L			Q9BWN1	PRR14_HUMAN	proline rich 14	554										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCCCCAGCCCTGATGTGGGC	0.642000													57	115					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254760	51254760	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:51254760C>T	ENST00000404971.1	-	2	1991	c.652G>A	c.(652-654)Gag>Aag	p.E218K	NRXN1_ENST00000405581.1_Missense_Mutation_p.E218K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E218K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E218K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E218K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E218K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E218K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	218	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGCCCGCCTCGCACGGGCTT	0.706000													3	9					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556392	53556392	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:53556392C>T	ENST00000371494.4	-	8	1245	c.1118G>A	c.(1117-1119)gGt>gAt	p.G373D	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	373						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GATGGTGGCACCCACGGGCAG	0.602000													4	43					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135530	55135530	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55135530C>T	ENST00000314706.3	+	1	171	c.171C>T	c.(169-171)gtC>gtT	p.V57V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTTATTTGTCACATTCTTAC	0.428000													32	74					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412458	126412458	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126412458G>A	ENST00000394329.3	+	17	14494	c.14481G>A	c.(14479-14481)agG>agA	p.R4827R	FAT4_ENST00000335110.5_Silent_p.R3068R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4827					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4827S(1)|p.R4770S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTAGAACAAGGAATCCAGCGG	0.502000													33	79					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636123	83636123	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:83636123G>A	ENST00000566620.1	+	8	1315	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	CDH13_ENST00000428848.3_Missense_Mutation_p.G303E|CDH13_ENST00000268613.10_Missense_Mutation_p.G389E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	342	Cadherin 2.				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|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|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)		CTGGATGTTGGATTAACAGGC	0.428000													111	104					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000													32	56					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186609	37186609	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37186609C>T	ENST00000425901.2	+	0	451					NR_033753.2																						GAGGTTGAACCATCTGCAACC	0.577000													7	5					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25353248	25353248	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25353248C>T	ENST00000302874.4	+	8	972	c.948C>T	c.(946-948)ttC>ttT	p.F316F	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	316							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TCTGGATTTTCCCCTATTTTT	0.353000													38	78					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602377	138602377	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138602377G>A	ENST00000440172.1	-	2	2043	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P	KIAA1549_ENST00000422774.1_Silent_p.P665P|KIAA1549_ENST00000242365.4_Silent_p.P615P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	665	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTCAACCAAGGGAGAAAAAG	0.498000			O	BRAF	pilocytic astrocytoma								17	48					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83796907	83796907	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:83796907G>A	ENST00000432794.1	-	5	634	c.471C>T	c.(469-471)acC>acT	p.T157T	SEC31A_ENST00000448323.1_Silent_p.T157T|SEC31A_ENST00000395310.2_Silent_p.T157T|SEC31A_ENST00000443462.2_Silent_p.T152T|SEC31A_ENST00000509142.1_Silent_p.T157T|SEC31A_ENST00000508502.1_Silent_p.T157T|SEC31A_ENST00000311785.7_Silent_p.T157T|SEC31A_ENST00000355196.2_Silent_p.T157T|SEC31A_ENST00000348405.4_Silent_p.T157T|SEC31A_ENST00000508479.1_Silent_p.T157T|SEC31A_ENST00000500777.2_Silent_p.T157T|SEC31A_ENST00000326950.5_Silent_p.T157T|SEC31A_ENST00000505472.1_Silent_p.T157T|SEC31A_ENST00000505984.1_Silent_p.T157T|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Silent_p.T157T			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	157					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTGTCATTGGGGTTGCAAAAT	0.338000													9	31					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702384	2702384	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:2702384G>A	ENST00000399655.1	+	19	2801	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	CACNA1C_ENST00000399644.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E871K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E846K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E846K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E846K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	846					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TACAGGAGAAGAGGATGAGGA	0.517000													9	23					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71567842	71567842	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:71567842C>T	ENST00000370455.3	+	10	1427	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	SMAP1_ENST00000370452.3_Silent_p.G366G|SMAP1_ENST00000316999.5_Silent_p.G366G|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	393					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ACGTTGTTGGCCCCCAAGGAG	0.567000													29	69					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489658	73489658	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73489658C>T	ENST00000314256.7	+	17	2567	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KIAA0195_ENST00000579208.1_Missense_Mutation_p.L376F|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L735F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	725					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)			CATCTACCCTCTCTCGGGATC	0.612000													39	137					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21071648	21071648	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21071648C>T	ENST00000261383.3	-	26	3749	c.3750G>A	c.(3748-3750)gtG>gtA	p.V1250V	DNAH3_ENST00000415178.1_Silent_p.V1250V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1250	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATCTGCTCCACCTGCTGGA	0.537000													69	147					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74720205	74720205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74720205C>T	ENST00000233623.5	+	13	1427	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	TTC31_ENST00000442235.2_Silent_p.I132I|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	474							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTTGCATTATCCTTCATGTCA	0.597000													40	354					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207755273	207755273	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207755273A>T	ENST00000367049.4	+	32	5227	c.5227A>T	c.(5227-5229)Aag>Tag	p.K1743*	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.K1293*|CR1_ENST00000367052.1_Nonsense_Mutation_p.K1293*|CR1_ENST00000367053.1_Nonsense_Mutation_p.K1293*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Nonsense_Mutation_p.K1293*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1293	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCGCTTAAAGGGCAGTTC	0.443000													4	125					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142722	18142722	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:18142722C>T	ENST00000278816.2	+	6	1591	c.941C>T	c.(940-942)tCc>tTc	p.S314F	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S186F|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S313F|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S314F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	314					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GACTTTTCCTCCTTGAGCTCC	0.522000													100	178					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098451	144098451	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:144098451G>A	ENST00000467773.1	-	4	531	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	NOBOX_ENST00000223140.5_Missense_Mutation_p.P93S|NOBOX_ENST00000483238.1_Missense_Mutation_p.P178S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	178					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TGAGTCTGGGGCCTGGAGCGG	0.612000													12	47					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283087	59283087	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59283087G>A	ENST00000329328.3	+	1	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AAGGCAGGAGGAAAGCCATCT	0.522000													117	195					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339861	55339861	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55339861G>A	ENST00000314634.3	+	1	258	c.258G>A	c.(256-258)aaG>aaA	p.K86K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCTTTTGAAGAAGACAACTA	0.438000													7	282					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878053	150878053	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150878053G>A	ENST00000422024.1	-	3	1337	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	ASB10_ENST00000275838.1_Silent_p.V359V|ASB10_ENST00000434669.1_Silent_p.V404V|ASB10_ENST00000420175.2_Silent_p.V359V|ASB10_ENST00000377867.3_Silent_p.V344V	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	359					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGACACGGACGGCGCCAT	0.701000													6	31					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326393	15326393	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:15326393C>T	ENST00000344693.5	-	0	814					NR_027270.1																						TCACCTTCTCCTTTTCCATTG	0.463000													41	76					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423866	190423866	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:190423866C>T	ENST00000367462.3	-	2	386	c.155G>A	c.(154-156)gGa>gAa	p.G52E	FAM5C_ENST00000534846.1_Missense_Mutation_p.D14N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		52						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATGGAAGGGTCCCTTATCAGA	0.493000													33	43					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:222291234G>A	ENST00000281821.2	-	16	2837	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	EPHA4_ENST00000409854.1_Silent_p.F932F|EPHA4_ENST00000409938.1_Silent_p.F932F|EPHA4_ENST00000392071.4_Silent_p.F881F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	932	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463000													22	66					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807842	20807842	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20807842C>T	ENST00000601440.1	-	4	987	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTTCTTTTCCGTATGAATT	0.383000													42	98					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098563	155098563	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:155098563C>T	ENST00000392825.3	+	5	899	c.332C>T	c.(331-333)cCt>cTt	p.P111L	GALNT13_ENST00000409237.1_Missense_Mutation_p.P111L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	111						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAGTCTACCCTGATGAACTT	0.333000													22	57					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49938539	49938539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49938539G>A	ENST00000221485.3	-	3	491	c.320C>T	c.(319-321)gCc>gTc	p.A107V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.A40V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.A95V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	107					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCTGAACTGGGCTTTCTGCGG	0.522000													91	202					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26535889	26535889	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26535889C>T	ENST00000333478.6	-	7	1560	c.978G>A	c.(976-978)ctG>ctA	p.L326L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.L128L|GPR113_ENST00000421160.2_Silent_p.L456L|GPR113_ENST00000311519.1_Silent_p.L525L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	525					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCAGGGTCAGTAAGTCGG	0.612000													26	41					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548635	61548635	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61548635C>T	ENST00000278836.5	+	21	2694	c.2598C>T	c.(2596-2598)gcC>gcT	p.A866A	MYRF_ENST00000389602.4_Silent_p.A257A|MYRF_ENST00000265460.5_Silent_p.A831A|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCAGCTCGGCCCCAGGTTCTG	0.592000													70	138					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186394995	186394995	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186394995C>T	ENST00000232003.4	+	7	981	c.901C>T	c.(901-903)Cca>Tca	p.P301S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	301	Pro-rich.				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)		CCCACCTCCTCCAGATGAAAG	0.532000													8	121					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3428790	3428790	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:3428790G>A	ENST00000529482.1	+	0	1907																											GCCCAGGTGGGCACCCCAGGG	0.567000													14	10					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160914966	160914966	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160914966C>T	ENST00000368029.3	-	8	999	c.942G>A	c.(940-942)gaG>gaA	p.E314E	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	314					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTCCGTTATCTCCCGACTGC	0.552000													24	91					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794778	196794778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196794778G>A	ENST00000320493.5	+	2	318	c.230G>A	c.(229-231)tGg>tAg	p.W77*	CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W77*|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	77	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAAGAAGGATGGTCACCAACA	0.393000													60	16					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030968	33030968	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:33030968C>T	ENST00000340811.4	-	3	954	c.846G>A	c.(844-846)caG>caA	p.Q282Q	PKP2_ENST00000070846.6_Silent_p.Q282Q	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	282					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)					AAGCCCTGTTCTGAGTGACGG	0.657000													51	51					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671516	30671516	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30671516A>G	ENST00000376406.3	-	10	6091	c.5444T>C	c.(5443-5445)tTa>tCa	p.L1815S	MDC1_ENST00000376405.2_Missense_Mutation_p.L1551S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1815	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CATGGTAGCTAAAGACCTCTT	0.507000								Other conserved DNA damage response genes					8	309					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086715	9086715	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9086715A>C	ENST00000397910.4	-	1	5303	c.5100T>G	c.(5098-5100)gtT>gtG	p.V1700V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1700	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1701fs*8(1)		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						GGACAGAGGAAACTCTTCCTA	0.478000													17	168					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862272	5862272	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5862272G>A	ENST00000329322.5	-	1	855	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	OR52E6_ENST00000379946.2_Missense_Mutation_p.P290S|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGGGTGGGAGGAACAACC	0.408000													40	36					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81851589	81851589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81851589C>T	ENST00000550584.2	-	4	655	c.360G>A	c.(358-360)aaG>aaA	p.K120K	PPFIA2_ENST00000548586.1_Silent_p.K120K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.K46K|PPFIA2_ENST00000549325.1_Silent_p.K102K|PPFIA2_ENST00000550359.2_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.K120K|PPFIA2_ENST00000549396.1_Silent_p.K120K|PPFIA2_ENST00000443686.3_Silent_p.K46K|PPFIA2_ENST00000333447.7_Silent_p.K102K|RP11-315E17.1_ENST00000550272.1_RNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	46										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTCTTCTTCCTTTTCTAGAA	0.313000													8	24					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55873210C>T	ENST00000313503.1	+	1	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373000										HNSCC(53;0.14)			4	147					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652498	45652498	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:45652498G>A	ENST00000427229.2	+	0	2012																											CACATGGGAGGAAAAATAAAC	0.378000													15	30					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825018	52825018	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52825018C>T	ENST00000595962.1	+	5	581	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ZNF480_ENST00000334564.7_Missense_Mutation_p.S129F|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S95F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAAATGTCTTCCAGTGTCAAA	0.353000													19	75					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532154	140532154	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140532154C>T	ENST00000231136.1	+	1	2316	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	PCDHB6_ENST00000543635.1_Silent_p.F636F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCAACTTCCCTCCTCAGG	0.483000													51	120					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24437389	24437389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:24437389G>A	ENST00000230036.1	-	21	2259	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	717						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCACCAAATCGGGAGAAGCGG	0.572000													49	152					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61538608	61538608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61538608G>A	ENST00000266070.4	-	5	1590	c.1265C>T	c.(1264-1266)gCc>gTc	p.A422V	DIDO1_ENST00000370366.1_Missense_Mutation_p.A422V|DIDO1_ENST00000370371.4_Missense_Mutation_p.A422V|DIDO1_ENST00000370368.1_Missense_Mutation_p.A422V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A422V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A422V|DIDO1_ENST00000266071.5_Missense_Mutation_p.A422V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A422V|DIDO1_ENST00000354665.4_Missense_Mutation_p.A422V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	422					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGTCGCTGCGGCGTGTTTGAG	0.512000													111	266					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48543880	48543880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48543880G>A	ENST00000293255.2	-	3	350	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	74	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CGGATTTGCTGGCCGAGCTCA	0.532000													28	66					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39264519	39264519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:39264519C>T	ENST00000280481.7	+	1	3254	c.3038C>T	c.(3037-3039)tCt>tTt	p.S1013F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1013					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGGAGGGCTCTGTTGTATAT	0.443000													55	136					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592000													30	60					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458310	12458310	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12458310C>T	ENST00000397026.2	+	8	1244	c.861C>T	c.(859-861)atC>atT	p.I287I	PPARG_ENST00000397010.2_Silent_p.I281I|PPARG_ENST00000397012.2_Silent_p.I281I|PPARG_ENST00000397015.2_Silent_p.I281I|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Silent_p.I281I|PPARG_ENST00000287820.6_Silent_p.I309I			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	309					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCATCCGCATCTTTCAGGGCT	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						36	54					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799659	45799659	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:45799659G>A	ENST00000553795.1	-	4	520	c.212C>T	c.(211-213)cCt>cTt	p.P71L	OR13A1_ENST00000374401.2_Missense_Mutation_p.P71L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P71L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GTGGAGCCCAGGGTTGAACGT	0.517000													30	32					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56585601	56585601	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56585601G>A	ENST00000323456.5	-	8	710	c.586C>T	c.(586-588)Cct>Tct	p.P196S	MTMR4_ENST00000579925.1_Missense_Mutation_p.P196S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	196	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCCACACAGGAACCAGCAGC	0.567000													47	138					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756279	248756279	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248756279G>A	ENST00000330500.2	-	1	821	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AGTTTGGTAGGAGCTGGGGAG	0.448000													52	38					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419397	105419397	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105419397G>A	ENST00000333244.5	-	7	2510	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	797						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCATGCTGGACAGAGACA	0.617000													132	323					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315834	50315834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50315834C>T	ENST00000332853.3	-	2	285	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	VSTM4_ENST00000298454.3_Missense_Mutation_p.G88R	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane		p.G88W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGAAATTCCCATAGTACTGC	0.632000													38	74					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955994	38955994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38955994C>T	ENST00000306658.7	-	1	217	c.152G>A	c.(151-153)gGg>gAg	p.G51E		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	51	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GCCCAAGCCCCCTCCCAAGGC	0.577000													63	105					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17157007	17157007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:17157007C>T	ENST00000357277.3	+	17	2008	c.1837C>T	c.(1837-1839)Caa>Taa	p.Q613*	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Nonsense_Mutation_p.Q612*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.Q412*	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	613	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAAGGCCATTCAAACTGCTAT	0.473000													24	3					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598736	151598736	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151598736G>A	ENST00000362032.4	+	3	510	c.405G>A	c.(403-405)aaG>aaA	p.K135K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	135						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTCTGCAAAAGAAAGAGTTTG	0.363000													43	134					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943038	119943038	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:119943038G>A	ENST00000327554.2	+	7	1278	c.813G>A	c.(811-813)gtG>gtA	p.V271V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	271										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACACCCAGGTGACCAGCAGCA	0.532000													76	204					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190609	58190609	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58190609C>T	ENST00000302581.2	-	1	177	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAACATCATCCCCAGGTTCC	0.483000													52	102					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64680513	64680513	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:64680513C>T	ENST00000371077.4	+	5	779	c.355C>T	c.(355-357)Cca>Tca	p.P119S	UBE2U_ENST00000371076.3_Missense_Mutation_p.P119S			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	119							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GCTTTCTAATCCAGTGCTAGA	0.333000													42	89					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407213	75407213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75407213C>T	ENST00000394810.2	-	4	2346	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.G509R	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	733	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCAAGGAGCCCTCGAGATGGG	0.632000													61	120					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18562716	18562716	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18562716C>T	ENST00000329627.6	+	3	513	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	PEX26_ENST00000428061.2_Missense_Mutation_p.L103F|PEX26_ENST00000399744.3_Missense_Mutation_p.L103F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	103					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCAAGAAGTCCTCTCCTGGGT	0.517000													34	69					0	0	1	0	0
CDK2	1017	broad.mit.edu	37	12	56365000	56365000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56365000C>T	ENST00000266970.4	+	6	1001	c.761C>T	c.(760-762)cCc>cTc	p.P254L	CDK2_ENST00000440311.2_Missense_Mutation_p.P194L|CDK2_ENST00000354056.4_Missense_Mutation_p.P220L|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Missense_Mutation_p.P302L	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	254	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTTGTACCTCCCCTGGATGAA	0.512000													94	227					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654946	161654946	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161654946C>T	ENST00000426558.1	-	0	96					NR_002595.1																						GTCACCACCTCGTTGATGGCA	0.537000													30	32					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608349	31608349	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31608349G>A	ENST00000170150.3	+	13	1345	c.1148_splice	c.e13-1	p.D384_splice		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	384						extracellular region	lipid binding										CTCTTTCAGGGATGTCCAGCT	0.612000													36	114					0	0	1	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150152	39150152	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39150152G>A	ENST00000391586.1	-	1	233	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	66						keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				AGTTGAGCAGGAAGCAGGTGG	0.617000													26	89					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262320	43262320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43262320C>T	ENST00000404209.4	-	3	639	c.543G>A	c.(541-543)tgG>tgA	p.W181*	PSG8_ENST00000306511.4_Nonsense_Mutation_p.W181*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Nonsense_Mutation_p.W59*|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	181	Ig-like C2-type 1.					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)				GACCATTCATCCACCACAGGT	0.532000													182	362					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257642	16257642	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16257642C>T	ENST00000375759.3	+	11	5111	c.4907C>T	c.(4906-4908)tCc>tTc	p.S1636F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1636					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTCCACCTTCCGTTGGGCCT	0.473000													136	236					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576391	71576391	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71576391C>T	ENST00000409544.1	+	2	937	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	ZNF638_ENST00000377802.2_Missense_Mutation_p.R103W|ZNF638_ENST00000355812.3_Missense_Mutation_p.R103W|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R103W	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	103					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCATGGTAGCCGGTGGGATGA	0.453000													25	103					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66941716	66941716	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:66941716G>A	ENST00000374690.3	+	6	2884	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q	AR_ENST00000396043.2_Missense_Mutation_p.R255Q|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	786	Interaction with MYST2.|Ligand-binding.		M -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R597Q(1)|p.R787Q(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGTGTGTCCGAATGAGGCAC	0.498000									Androgen Insensitivity Syndrome				52	20					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417194	150417194	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417194G>A	ENST00000307194.5	+	3	242	c.102G>A	c.(100-102)ggG>ggA	p.G34G		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGTTGGGAGAACAGGGG	0.572000													95	374					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544911	82544911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544911C>T	ENST00000423517.2	-	7	12728	c.12391G>A	c.(12391-12393)Gaa>Aaa	p.E4131K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4131K|PCLO_ENST00000437081.1_Missense_Mutation_p.E851K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4062					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						CTACGAAATTCCTGTTTAATC	0.403000													22	107					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747488	79747488	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79747488T>A	ENST00000338008.5	+	10	3747	c.3567T>A	c.(3565-3567)ttT>ttA	p.F1189L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1189L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1189L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1189					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CAAAGGTTTTTCCTATGCGTT	0.328000													14	135					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22383525	22383525	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:22383525G>A	ENST00000558896.1	+	0	2034																											caatggagGAGAGTTATGCAT	0.358000													4	4					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689016	26689016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26689016G>A	ENST00000529632.2	+	2	935	c.739G>A	c.(739-741)Gag>Aag	p.E247K	SEZ6L_ENST00000248933.6_Missense_Mutation_p.E247K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E20K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E20K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E247K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E247K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E247K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	247						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGACAAAGGTGAGAATGAGCT	0.632000													27	47					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110086556C>T	ENST00000527748.1	+	2	1595	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577000													64	112					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063742	15063742	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15063742G>A	ENST00000430939.2	-	8	1434	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	SLC1A6_ENST00000221742.3_Silent_p.F499F|SLC1A6_ENST00000600144.1_Silent_p.F421F			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	499					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACACTCACAGGAACCAGTCCA	0.572000													50	82					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411920	130411920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:130411920C>T	ENST00000370904.1	-	19	3113	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	IGSF1_ENST00000370910.1_Missense_Mutation_p.D735N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D744N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D749N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	744	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGCCTTCGTCTTTATCCTCC	0.502000													54	23					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108110	32108110	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32108110G>A	ENST00000327423.6	-	4	5904	c.5715C>T	c.(5713-5715)tcC>tcT	p.S1905S	PRR14L_ENST00000397493.2_Silent_p.S1905S|PRR14L_ENST00000434485.1_Silent_p.S1905S	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1905										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGCAGTGAGGGGAATGAAGAG	0.512000													45	96					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8037886	8037886	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:8037886C>T	ENST00000318888.4	-	10	1179	c.308G>A	c.(307-309)aGc>aAc	p.S103N	ABLIM2_ENST00000361737.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.S346N|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000514025.1_Missense_Mutation_p.S103N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S346N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S346N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S346N			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	346	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTCGCCGTAGCTCTGCCTGTC	0.592000													15	29					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498676	150498676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150498676C>T	ENST00000484928.1	+	2	619	c.38C>T	c.(37-39)gCc>gTc	p.A13V	TMEM176A_ENST00000004103.3_Missense_Mutation_p.A13V|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	13						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCGGAGGCCCCACAGCAC	0.622000													15	102					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504291	16504291	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:16504291T>A	ENST00000304523.5	-	8	1420	c.1097A>T	c.(1096-1098)aAc>aTc	p.N366I	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.N364I	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	366							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGGTGGGGGGTTTTCTGATTT	0.522000													129	212					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47402141	47402141	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47402141C>T	ENST00000285039.7	-	26	3752	c.3453G>A	c.(3451-3453)aaG>aaA	p.K1151K	MYO5B_ENST00000324581.6_Silent_p.K292K|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1151					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCCGTACTCTCTTCTGCAGCT	0.507000													10	168					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149814260	149814260	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:149814260C>T	ENST00000370396.2	+	9	837	c.783C>T	c.(781-783)ctC>ctT	p.L261L	MTM1_ENST00000413012.2_Silent_p.L224L|MTM1_ENST00000542741.1_Silent_p.L166L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.L146L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	261	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATATCTCGATGTTATCA	0.408000													4	84					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50367263	50367263	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50367263G>A	ENST00000322344.3	-	7	811	c.702C>T	c.(700-702)gcC>gcT	p.A234A	PNKP_ENST00000600910.1_Silent_p.A234A|PNKP_ENST00000596014.1_Silent_p.A234A|PNKP_ENST00000600573.1_Silent_p.A234A	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	234					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTCCACCTTGGCCTTGAACT	0.632000								Other BER factors					23	55					0	0	1	0	0
IGFBP7	3490	broad.mit.edu	37	4	57907079	57907079	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:57907079G>A	ENST00000295666.4	-	2	529	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	IGFBP7_ENST00000537922.1_Missense_Mutation_p.P166S|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	166	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTCCTTGGGGGGCGTCACT	0.502000													9	34					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1389152	1389152	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1389152G>A	ENST00000397488.2	+	4	375	c.258G>A	c.(256-258)ggG>ggA	p.G86G	BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000426824.3_Intron|BAIAP3_ENST00000324385.5_Intron|BAIAP3_ENST00000397489.1_Silent_p.G86G			O94812	BAIP3_HUMAN	BAI1-associated protein 3	108					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)				CTCACCCTGGGCCCCACACAC	0.716000													7	7					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40030403	40030403	+	Splice_Site	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40030403C>A	ENST00000350221.3	-	8	990		c.e8-1			NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1											NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CCTTGGCCAACTACAGAATTT	0.378000													37	75					1.66425e-11	1.67549e-11	1	1	0
INADL	10207	broad.mit.edu	37	1	62393442	62393442	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62393442C>T	ENST00000371158.2	+	27	3725	c.3611C>T	c.(3610-3612)cCt>cTt	p.P1204L	INADL_ENST00000316485.6_Missense_Mutation_p.P1204L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1204					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTCCTCCTCCTTATAAAGCT	0.413000													5	73					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62892708	62892708	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:62892708C>T	ENST00000393630.3	+	5	836	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	MON2_ENST00000552738.1_Missense_Mutation_p.L149F|MON2_ENST00000280379.6_Missense_Mutation_p.L149F|MON2_ENST00000393632.2_Missense_Mutation_p.L149F|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.L149F|MON2_ENST00000552115.1_Missense_Mutation_p.L149F|MON2_ENST00000393629.2_Missense_Mutation_p.L149F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	149					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGCAATCGTTCTTTGTTTTCG	0.318000													16	97					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397962	125397962	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125397962G>A	ENST00000521654.2	+	4	1441	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	RNF217_ENST00000368414.2_Missense_Mutation_p.E43K|RNF217_ENST00000560949.1_Missense_Mutation_p.E246K|RNF217_ENST00000359704.2_Missense_Mutation_p.E189K|RNF217_ENST00000275184.6_Missense_Mutation_p.E125K			Q8TC41	RN217_HUMAN	ring finger protein 217	189					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CTACCTCCCAGAGAGACCTCA	0.438000													53	126					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58287303	58287303	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:58287303G>A	ENST00000249750.4	-	5	1295	c.528C>T	c.(526-528)ccC>ccT	p.P176P	ALDH1A2_ENST00000537372.1_Silent_p.P155P|ALDH1A2_ENST00000347587.3_Silent_p.P176P|ALDH1A2_ENST00000559517.1_Silent_p.P80P|ALDH1A2_ENST00000558231.1_Silent_p.P147P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	176					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACACTCCAATGGGTTCATGTC	0.383000													50	131					0	0	1	0	0
STRA8	346673	broad.mit.edu	37	7	134925346	134925346	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134925346G>A	ENST00000275764.3	+	2	136	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	46					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAGCTGCAGGAGCTTGAGCA	0.552000													57	196					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41524613	41524613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:41524613G>A	ENST00000318588.9	-	7	670	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	CASK_ENST00000378158.1_Missense_Mutation_p.L209F|CASK_ENST00000442742.2_Missense_Mutation_p.L209F|CASK_ENST00000378166.4_Missense_Mutation_p.L209F|CASK_ENST00000378163.1_Missense_Mutation_p.L209F|CASK_ENST00000361962.4_Missense_Mutation_p.L209F|CASK_ENST00000421587.2_Missense_Mutation_p.L209F|CASK_ENST00000378154.1_Missense_Mutation_p.L209F			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	209	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGGATAAAAAGGATCACACCG	0.423000													4	23					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429122	139429122	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:139429122G>A	ENST00000272641.3	-	2	271	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	55	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ACAGGCGCAGGGGACTGATGA	0.577000													67	123					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834811	178834811	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:178834811C>T	ENST00000234816.2	-	3	548	c.101G>A	c.(100-102)aGa>aAa	p.R34K	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R34K	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	34						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AGGGTATCTTCTCTGGTTTAT	0.418000													56	48					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752247	7752247	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7752247G>A	ENST00000254846.5	+	11	3030	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	KDM6B_ENST00000448097.2_Missense_Mutation_p.E881K	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	881	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGGCCCGGGAGCGCAGGGC	0.716000													19	29					0	0	1	0	0
TMEM70	54968	broad.mit.edu	37	8	74891051	74891051	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:74891051G>A	ENST00000312184.5	+	2	344	c.271G>A	c.(271-273)Gat>Aat	p.D91N	TMEM70_ENST00000517439.1_Missense_Mutation_p.D91N	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	91					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CAAATCAGAAGATGGAAGGCT	0.363000													9	78					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679636	95679636	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95679636C>T	ENST00000298912.4	-	6	641	c.528G>A	c.(526-528)gaG>gaA	p.E176E		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	176	Actin-binding.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCACGCTCCTCTCTGCAGTGG	0.577000													53	99					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54320498	54320498	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:54320498G>A	ENST00000231009.2	+	2	145	c.75G>A	c.(73-75)atG>atA	p.M25I	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	25					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTTTCAATATGGAAATTATTG	0.383000													16	43					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500303	90500303	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90500303G>A	ENST00000325643.5	+	4	967	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTGCTCCAGCGATCCCATCTG	0.632000													18	35					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531008	84531008	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84531008C>T	ENST00000527857.1	+	0	1030					NR_026851.1																						GAGATGTTATCTCTAGGTAGT	0.493000													5	9					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88580373	88580373	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:88580373G>A	ENST00000339673.6	+	4	203	c.102_splice	c.e4-1	p.G35_splice	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Splice_Site_p.G35_splice|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	35					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TTTTTGCAGGGTCATTTGGCT	0.333000													22	73					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715664	18715664	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18715664C>T	ENST00000433979.1	+	26	3611	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F	PIK3C2G_ENST00000538779.1_Silent_p.F1206F|PIK3C2G_ENST00000266497.5_Silent_p.F1165F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1165	PI3K/PI4K.				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)				TGGAGTGTTTCCCTGTTAAAT	0.383000													6	9					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120978974	120978974	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:120978974G>A	ENST00000222462.2	+	4	963	c.673G>A	c.(673-675)Gga>Aga	p.G225R	WNT16_ENST00000361301.2_Missense_Mutation_p.G215R	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	225					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCGCTGCCACGGAGTTTCCGG	0.408000													23	100					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852341	182852341	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:182852341C>T	ENST00000367549.3	+	25	3092	c.2982C>T	c.(2980-2982)ctC>ctT	p.L994L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	994					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTATCTCCCTCCTGGCCTTTG	0.393000													6	207					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067402	190067402	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:190067402G>A	ENST00000367462.3	-	8	2278	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	FAM5C_ENST00000534846.1_Silent_p.L581L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		683						extracellular region		p.L683M(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAAAATCAGGTCCCGAATT	0.463000													57	152					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76788421	76788421	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:76788421C>T	ENST00000287239.4	+	18	4328	c.3839C>T	c.(3838-3840)cCc>cTc	p.P1280L	KAT6B_ENST00000372711.1_Missense_Mutation_p.P1097L|KAT6B_ENST00000372714.1_Missense_Mutation_p.P988L|KAT6B_ENST00000372724.1_Missense_Mutation_p.P988L|KAT6B_ENST00000372725.1_Missense_Mutation_p.P988L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1280					histone H3 acetylation|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 factor binding|zinc ion binding										CCAGAAACACCCATGGAGCCT	0.498000													13	94					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352407	103352407	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103352407C>T	ENST00000358392.2	-	63	5167	c.4850G>A	c.(4849-4851)cGa>cAa	p.R1617Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.R1566Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1489Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1605Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1605	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTACAAGTTCGGGCTGGATT	0.433000													5	166					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170175274	170175274	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:170175274C>A	ENST00000263816.3	-	3	593	c.308G>T	c.(307-309)tGc>tTc	p.C103F	LRP2_ENST00000443831.1_Missense_Mutation_p.C103F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	103	LDL-receptor class A 2.		C -> R (found in a renal cell carcinoma sample; somatic mutation).		hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACTTACAGCAATCTTGACG	0.448000													8	100					3.09899e-07	3.11352e-07	1	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718278	103718278	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:103718278C>T	ENST00000245312.3	-	1	918	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	108					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGTTCCTCCAGGGCAGCAT	0.507000													12	88					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053217	44053217	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:44053217C>T	ENST00000306006.6	-	2	963	c.311G>A	c.(310-312)aGa>aAa	p.R104K	ZNF239_ENST00000374446.2_Missense_Mutation_p.R104K|ZNF239_ENST00000535642.1_Missense_Mutation_p.R104K|ZNF239_ENST00000426961.1_Missense_Mutation_p.R104K|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TATCACTTTTCTCTCAGTGCT	0.428000													77	135					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034223	30034223	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:30034223C>T	ENST00000328224.6	-	2	1236	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	1						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTGCAACCTCCATGGTGGTGG	0.517000													7	142					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98900385	98900385	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:98900385C>T	ENST00000254898.5	+	2	288	c.57C>T	c.(55-57)ctC>ctT	p.L19L	MATN2_ENST00000521689.1_Silent_p.L19L|MATN2_ENST00000520016.1_Silent_p.L19L|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.L19L	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	19						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCGTCCTCCTCCCTGCCGAGG	0.612000													8	30					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22023054	22023054	+	Missense_Mutation	SNP	C	C	T	rs141355151		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:22023054C>T	ENST00000284202.4	+	7	673	c.532C>T	c.(532-534)Cct>Tct	p.P178S		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	178										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TCATGGCATTCCTATTACAGA	0.348000													64	132					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049314	36049314	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36049314C>T	ENST00000282507.3	-	4	621	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	174						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCCAAATTCCAAAGAGCCG	0.448000													31	89					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746010	121746010	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:121746010C>T	ENST00000452319.1	+	14	2580	c.2520C>T	c.(2518-2520)ccC>ccT	p.P840P	GLI2_ENST00000314490.11_Silent_p.P512P|GLI2_ENST00000361492.4_Silent_p.P840P			P10070	GLI2_HUMAN	GLI family zinc finger 2	840	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGCCTCGCCCCTGGGCGCCG	0.731000													6	11					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423587	13423587	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13423587C>T	ENST00000360228.5	-	12	1563	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E523K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	523					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)	AAAATGAATTCTGCATAGTCT	0.438000													25	40					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49247724	49247724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49247724C>T	ENST00000332955.2	-	4	930	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	128					fusion of sperm to egg plasma membrane	integral to membrane		p.R128Q(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTTTGGAATCGAGCAACATA	0.517000													33	86					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725574	45725574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:45725574C>T	ENST00000297323.7	+	13	2109	c.2087C>T	c.(2086-2088)cCt>cTt	p.P696L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	696					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGCTGCCTGCCTTGGGCCTGG	0.637000													23	47					0	0	1	0	0
NDUFA11	126328	broad.mit.edu	37	19	5896925	5896925	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5896925A>G	ENST00000418389.2	-	2	258	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L	NDUFA11_ENST00000308961.4_Missense_Mutation_p.F61L|AC024592.12_ENST00000586349.1_Missense_Mutation_p.V59A|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.F61L	NM_001193375.1	NP_001180304.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	61					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	CCTGCAGTGAACGTGTATTGT	0.607000													6	234					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169195176	169195176	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169195176G>A	ENST00000393743.3	-	17	2654	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	788	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTGCCTGAGGACGTTGGGGC	0.517000													10	136					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457403	66457403	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66457403G>A	ENST00000533211.1	-	29	6153	c.5822C>T	c.(5821-5823)tCc>tTc	p.S1941F	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1941F|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1941F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1941					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAGATCCGCGGAGGACACATC	0.622000													4	127					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166960706	166960706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:166960706G>A	ENST00000367872.4	+	3	561	c.317G>A	c.(316-318)gGt>gAt	p.G106D	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G75D	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	106					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCTTTAAAAGGTGATCAAGGT	0.373000													8	204					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196544841	196544841	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196544841C>T	ENST00000409086.3	+	2	350	c.75C>T	c.(73-75)tgC>tgT	p.C25C	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.C25C	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	25					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCAACCATTGCCATGAAGAAC	0.378000													23	63					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183658019	183658019	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:183658019C>T	ENST00000511685.1	+	17	3149	c.3026C>T	c.(3025-3027)tCc>tTc	p.S1009F	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1009F					teneurin transmembrane protein 3																		TACTTGAGTTCCAGAGCTGCA	0.388000													18	28					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23596118	23596118	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23596118G>A	ENST00000305877.8	+	2	2163	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	BCR_ENST00000359540.3_Missense_Mutation_p.R471K	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	471					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGCAAGGGCAGGGGCAGCCGG	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								16	44					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45294039	45294039	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:45294039G>A	ENST00000447098.2	-	13	1649	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PTCH2_ENST00000372192.3_Silent_p.F546F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	546	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGATGGCTGGGAAGACAAGCA	0.642000									Basal Cell Nevus syndrome				22	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597748	179597748	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179597748G>A	ENST00000589042.1	-	55	16379	c.16155C>T	c.(16153-16155)ccC>ccT	p.P5385P	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.P5068P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.P4141P|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5068	Ig-like 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)			ACACCCTCATGGGGAGGGAGC	0.473000													17	40					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640397	131640397	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:131640397G>A	ENST00000368648.3	-	13	1400	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	EBF3_ENST00000355311.5_Missense_Mutation_p.S452L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	452					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTTGGCTTGTGACGTCTCTGA	0.607000													53	102					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922294	8922294	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8922294G>A	ENST00000601372.1	-	10	1583	c.872C>T	c.(871-873)cCt>cTt	p.P291L	ZNF558_ENST00000444186.2_Missense_Mutation_p.P220L|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291L			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ACATTCATAAGGTTTCTCCCC	0.453000													7	158					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40384054	40384054	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40384054C>T	ENST00000221347.6	-	21	9563	c.9556G>A	c.(9556-9558)Gag>Aag	p.E3186K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3186	TIL 7.					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)			TGGCAGCCCTCCACACAGGGG	0.647000													17	147					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51363267	51363267	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:51363267G>A	ENST00000522124.1	+	8	1002	c.341G>A	c.(340-342)aGa>aAa	p.R114K	SNTG1_ENST00000517473.1_Missense_Mutation_p.R114K|SNTG1_ENST00000276467.5_Missense_Mutation_p.R114K|SNTG1_ENST00000518864.1_Missense_Mutation_p.R114K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	114	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R114K(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTAATGTGAGAAAATGTAGA	0.323000													13	34					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582761	24582761	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:24582761C>T	ENST00000319715.4	+	18	4806	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	RBBP6_ENST00000348022.2_Silent_p.S1424S|RBBP6_ENST00000381039.3_Silent_p.S618S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1458	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AACATGATTCCACTCGTGCTT	0.378000													8	94					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222797	22222797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22222797G>A	ENST00000374695.3	-	2	149	c.70C>T	c.(70-72)Cat>Tat	p.H24Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	24					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCAGCCCATGGGTCACCTGT	0.557000													9	288					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110453881	110453881	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110453881C>T	ENST00000265175.5	+	21	3532	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F	SEC24B_ENST00000399100.2_Silent_p.F1124F|SEC24B_ENST00000504968.2_Silent_p.F1189F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1159					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		aaggtgctttccttatggact	0.428000													6	45					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7692186	7692186	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7692186G>A	ENST00000358368.4	-	4	502	c.465C>T	c.(463-465)ttC>ttT	p.F155F	XAB2_ENST00000534844.1_Silent_p.F152F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	155					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTGAGCGCAGGAAGCGCAGAT	0.637000								Direct reversal of damage;Nucleotide excision repair (NER)					31	56					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625886	142625886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142625886G>A	ENST00000265310.1	-	6	1010	c.662C>T	c.(661-663)tCc>tTc	p.S221F	TRPV5_ENST00000442623.1_Missense_Mutation_p.S221F	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	221					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)					TCCATCGTAGGACAGCAGCAG	0.562000													29	100					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586497	33586497	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33586497C>T	ENST00000299977.4	+	2	936	c.788C>T	c.(787-789)cCt>cTt	p.P263L	SLFN5_ENST00000542451.1_Missense_Mutation_p.P263L|SLFN5_ENST00000592325.1_Missense_Mutation_p.P263L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	263					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGAAGCTACCTGTCCATCAT	0.438000													60	130					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34649094	34649094	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:34649094G>A	ENST00000374789.3	-	13	2126	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F	PARD3_ENST00000374773.1_Missense_Mutation_p.L601F|PARD3_ENST00000374790.3_Missense_Mutation_p.L544F|PARD3_ENST00000374776.1_Missense_Mutation_p.L588F|PARD3_ENST00000374788.3_Missense_Mutation_p.L601F|PARD3_ENST00000340077.5_Missense_Mutation_p.L601F|PARD3_ENST00000545260.1_Missense_Mutation_p.L544F|PARD3_ENST00000374794.3_Missense_Mutation_p.L544F|PARD3_ENST00000350537.4_Missense_Mutation_p.L588F|PARD3_ENST00000346874.4_Missense_Mutation_p.L601F|PARD3_ENST00000544292.1_Missense_Mutation_p.L318F|PARD3_ENST00000374768.1_Missense_Mutation_p.L39F|PARD3_ENST00000545693.1_Missense_Mutation_p.L588F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	601	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGACACCAAGGCCTGCAGAT	0.428000													51	96					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27065149	27065149	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27065149C>T	ENST00000268766.6	+	8	1142	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	370						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGTCTCCTTCCTGGGGCAGT	0.667000													4	67					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28547160	28547160	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28547160C>T	ENST00000452236.2	-	2	1074	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	153					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATCATTTCTTCCATAGAAACT	0.428000													85	98					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61935293	61935293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:61935293C>T	ENST00000577390.1	-	3	1291	c.337G>A	c.(337-339)Gat>Aat	p.D113N	CDH8_ENST00000299345.6_Missense_Mutation_p.D113N|CDH8_ENST00000584337.1_Missense_Mutation_p.D113N|CDH8_ENST00000577730.1_Missense_Mutation_p.D113N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	113	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAGTTACATCATTTATTTGA	0.428000													25	41					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841665	157841665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:157841665C>T	ENST00000464171.1	+	3	330	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RSRC1_ENST00000480820.1_Nonsense_Mutation_p.R69*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.R69*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.R69*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.R69*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	69	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACGCAGGCATCGATCAAGCAG	0.378000													8	137					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860162	860162	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:860162G>A	ENST00000314167.4	-	22	3143	c.3033C>T	c.(3031-3033)ttC>ttT	p.F1011F	GAK_ENST00000511163.1_Silent_p.F932F|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1011					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCAGGTGCAGGAAGTCGGCGC	0.632000													13	69					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42701685	42701685	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42701685C>T	ENST00000337343.4	+	2	300	c.279C>T	c.(277-279)acC>acT	p.T93T	DGKH_ENST00000540693.1_Silent_p.T93T|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Silent_p.T93T	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	93	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAGGCCGCACCCTTTACTATG	0.408000													15	33					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845988	18845988	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18845988C>T	ENST00000412938.1	+	0	3346																											ACACCTCCATCCCGTCCTGCG	0.577000													8	84					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913865	160913865	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160913865G>A	ENST00000335388.5	-	0	455					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCAGAGGCACGAACACAGTCC	0.507000													121	74					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29085182	29085182	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:29085182A>T	ENST00000544772.1	-	15	2256	c.820T>A	c.(820-822)Ttt>Att	p.F274I	CHEK2_ENST00000402731.1_Missense_Mutation_p.F466I|CHEK2_ENST00000382578.1_Missense_Mutation_p.F404I|CHEK2_ENST00000328354.6_Missense_Mutation_p.F495I|CHEK2_ENST00000348295.3_Missense_Mutation_p.F466I|CHEK2_ENST00000382565.1_Missense_Mutation_p.F115I|CHEK2_ENST00000404276.1_Missense_Mutation_p.F495I|CHEK2_ENST00000382580.2_Missense_Mutation_p.F538I|CHEK2_ENST00000405598.1_Missense_Mutation_p.F495I|CHEK2_ENST00000403642.1_Missense_Mutation_p.F404I|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	495	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGATCTTGAAACTTTCTCTTC	0.428000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					24	40					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083394	114083394	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:114083394G>A	ENST00000356501.4	-	4	448	c.273C>T	c.(271-273)tcC>tcT	p.S91S	ADPRHL1_ENST00000375418.3_Silent_p.S173S	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	173					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCGTGCACAGGGAGCCCAGGA	0.687000													10	22					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687800	109687800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:109687800C>T	ENST00000277225.5	+	3	1896	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P536L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	536					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P536L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGTTGGATCCCTTGCAGCAG	0.557000													22	39					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659347	50659347	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:50659347C>T	ENST00000252677.3	+	2	919	c.919C>T	c.(919-921)Cac>Tac	p.H307Y		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	307					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGTTGGGATCACTGGATCAT	0.502000													53	34					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346406	78346406	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78346406G>A	ENST00000409931.3	-	2	555	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P162S			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	162						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGACCCTTAGGAAAATCCCCG	0.463000													70	141					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38628891	38628891	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38628891C>T	ENST00000413689.1	-	15	2629	c.2436_splice	c.e15+1	p.L812_splice	SCN5A_ENST00000443581.1_Splice_Site_p.L812_splice|SCN5A_ENST00000451551.2_Splice_Site_p.L812_splice|SCN5A_ENST00000414099.2_Splice_Site_p.L812_splice|SCN5A_ENST00000423572.2_Splice_Site_p.L812_splice|SCN5A_ENST00000450102.2_Splice_Site_p.L812_splice|SCN5A_ENST00000449557.2_Splice_Site_p.L812_splice|SCN5A_ENST00000333535.4_Splice_Site_p.L812_splice|SCN5A_ENST00000455624.2_Splice_Site_p.L812_splice|SCN5A_ENST00000425664.1_Splice_Site_p.L812_splice	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	812					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)	AGCCAGGTACCAGGCGGAAGG	0.587000													11	18					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055248	62055248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:62055248C>T	ENST00000577390.1	-	2	1014	c.60G>A	c.(58-60)tgG>tgA	p.W20*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.W20*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.W20*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.W20*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	20					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAGAGTAATCCATAATATTA	0.438000													35	35					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468535	66468535	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66468535G>A	ENST00000533211.1	-	17	3366	c.3035C>T	c.(3034-3036)gCc>gTc	p.A1012V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1012V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1012V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1012					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACCCGGGCGGCGATGGCCTC	0.687000													6	100					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643449	104643449	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104643449G>A	ENST00000315264.7	+	11	4285	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	KIF26A_ENST00000423312.2_Missense_Mutation_p.E1442K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1442					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGAGCGGTACGAAGGCCTGGC	0.697000													10	38					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969168	118969168	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:118969168C>A	ENST00000334549.1	+	3	513	c.513C>A	c.(511-513)ttC>ttA	p.F171L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	171						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)		AATTCCCTTTCTTTACCCGCC	0.502000													47	116					4.18559e-23	4.23194e-23	1	1	0
LRCH1	23143	broad.mit.edu	37	13	47315819	47315819	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:47315819C>T	ENST00000389798.3	+	19	2220	c.2023C>T	c.(2023-2025)Cgt>Tgt	p.R675C	LRCH1_ENST00000389797.3_Missense_Mutation_p.R710C|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	675	CH.							p.R675C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTTGGATTTTCGTCACATTCG	0.507000													265	485					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133496080	133496080	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133496080C>T	ENST00000402696.3	+	16	2545	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L	TF_ENST00000264998.3_Missense_Mutation_p.S560L	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	687					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.S687L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGCTCCACCTCATGTGAGTAG	0.488000													15	43					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059334	160059334	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:160059334A>G	ENST00000327245.5	-	13	2268	c.1422T>C	c.(1420-1422)ggT>ggC	p.G474G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	474					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACTCTTCACCATCTGAGT	0.532000													35	107					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786650	121786650	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:121786650C>T	ENST00000261367.7	+	12	3677	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P337L|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P305L|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P261L|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P703L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P643L|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P750L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	703					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)		AGGCCGCAGCCCATTGTAGAA	0.542000													28	65					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46766909	46766909	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46766909G>A	ENST00000230588.4	+	5	262	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	85	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CATCTTGGCTGATAATTTGGG	0.443000													44	129					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931504	23931504	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23931504G>A	ENST00000331837.4	-	1	946	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	287	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCAGGCCTGGGGGTCTTTCT	0.602000									Prader-Willi syndrome				6	71					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18840826	18840826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:18840826C>T	ENST00000446231.2	-	54	9797	c.9385G>A	c.(9385-9387)Gaa>Aaa	p.E3129K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3129K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3129					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTTTGCTTTCGGCACCAAAG	0.473000													4	66					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192980836	192980836	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:192980836G>A	ENST00000264735.2	+	3	626	c.532G>A	c.(532-534)Gat>Aat	p.D178N	HRASLS_ENST00000602513.1_Missense_Mutation_p.D73N	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	73										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GCTCTTGAAGGATGTTGTGGG	0.423000													19	264					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211099	50211099	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50211099C>T	ENST00000284509.6	-	19	2113	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E658K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	658					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTAACTGTTTCAATAACACCC	0.333000													37	94					0	0	1	0	0
NDUFA8	4702	broad.mit.edu	37	9	124914582	124914582	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:124914582G>A	ENST00000537618.1	-	2	266	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	NDUFA8_ENST00000373768.3_Missense_Mutation_p.P53S			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	53	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	CACCGCCTCGGATCTTTCTCT	0.453000													32	43					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154705568	154705568	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154705568T>G	ENST00000271915.3	-	4	1816	c.1501A>C	c.(1501-1503)Atc>Ctc	p.I501L	KCNN3_ENST00000361147.4_Missense_Mutation_p.I196L|KCNN3_ENST00000358505.2_Missense_Mutation_p.I188L	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	506						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)			GTGATGGAGATGAGCCACATG	0.517000													5	156					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174434	150174434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150174434G>A	ENST00000307271.3	+	5	2138	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	522						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCTGCTGTGAAAAAGGGGA	0.517000													34	93					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927817	104927817	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:104927817G>A	ENST00000507740.1	+	5	1567	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	RIMS2_ENST00000262231.10_Missense_Mutation_p.R491K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R636K|RIMS2_ENST00000436393.2_Missense_Mutation_p.R414K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	714					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GGACATCTTAGACCAGGTAGG	0.313000										HNSCC(12;0.0054)			24	34					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123775740	123775740	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123775740G>A	ENST00000422452.2	-	11	2041	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	TENM1_ENST00000371130.3_Missense_Mutation_p.P660S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGACATACAGGAAGTGGTGTT	0.502000													138	56					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098064	9098064	+	Silent	SNP	G	G	A	rs139776061		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:9098064G>A	ENST00000377424.4	-	11	1373	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	SLC2A5_ENST00000536305.1_Silent_p.L339L|SLC2A5_ENST00000535586.1_Silent_p.L283L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	398					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTGATGAGCAGCGCGG	0.632000													23	28					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783335	43783335	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43783335T>A	ENST00000372476.3	+	16	2800	c.2721T>A	c.(2719-2721)tgT>tgA	p.C907*	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Nonsense_Mutation_p.C552*	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	907	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGCCTGTAAGAACCGAG	0.552000													6	179					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167742593	167742593	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167742593G>A	ENST00000359523.2	+	4	795	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.R198Q	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	198					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AACTCTAAACGGGATTACACT	0.428000													41	96					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145039873	145039873	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:145039873C>T	ENST00000360771.4	-	4	380	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.E63K|GYPA_ENST00000324022.10_Missense_Mutation_p.E56K|GYPA_ENST00000504786.1_Missense_Mutation_p.E57K|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.E24K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	89					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATACCTGGTTCAGAGAAATGA	0.313000													26	64					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89131692	89131692	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:89131692C>T	ENST00000554922.1	-	22	3514	c.3266G>A	c.(3265-3267)cGa>cAa	p.R1089Q	EML5_ENST00000352093.5_Missense_Mutation_p.R1051Q|EML5_ENST00000380664.5_Missense_Mutation_p.R1089Q	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1089						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGTGAAAATCGAATATCTGA	0.343000													7	26					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560104	36560104	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:36560104C>T	ENST00000373461.4	+	2	436	c.189C>T	c.(187-189)tcC>tcT	p.S63S	VSTM2L_ENST00000373458.3_Silent_p.S63S|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	63	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TGGCCTGCTCCTTCCGCGGCA	0.647000													99	138					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411451	4411451	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4411451G>A	ENST00000254436.7	-	2	301	c.189C>T	c.(187-189)ctC>ctT	p.L63L	TRIM21_ENST00000543625.1_Silent_p.L63L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	63					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GATTGGGCCGGAGATTCTTGA	0.577000													41	35					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398291	62398291	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62398291G>A	ENST00000346178.4	-	12	1249	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S	GANAB_ENST00000540933.1_Missense_Mutation_p.P293S|GANAB_ENST00000356638.3_Missense_Mutation_p.P390S|GANAB_ENST00000534779.1_Missense_Mutation_p.P298S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	390					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAGAAGAGTGGGGGCAACGCC	0.587000													16	36					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60758133	60758133	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:60758133C>T	ENST00000395076.4	+	5	1510	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	PPM1A_ENST00000529574.1_Silent_p.A360A|PPM1A_ENST00000325642.3_Silent_p.A433A	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	360					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TTATTGAAGCCGTTTACAATA	0.358000													24	70					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935845	151935845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151935845C>T	ENST00000355193.2	-	15	2817	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E867K					lysine (K)-specific methyltransferase 2C																		TTAAAAATTTCCCGACCTTCT	0.423000													5	192					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708122	167708122	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167708122G>A	ENST00000230256.3	+	2	380	c.205G>A	c.(205-207)Ggg>Agg	p.G69R	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G69R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	69						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGCTGCAAGGGGACCATCAT	0.652000													106	264					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685601	2685601	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2685601C>T	ENST00000274643.7	-	6	816	c.474G>A	c.(472-474)ctG>ctA	p.L158L	MYLK4_ENST00000268446.5_Silent_p.L158L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	158	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGCGTGGTCCAGCTGGTTCA	0.572000													63	278					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407984	26407984	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26407984C>T	ENST00000289361.6	+	4	887	c.519C>T	c.(517-519)ccC>ccT	p.P173P	BTN3A1_ENST00000476549.2_Silent_p.P173P|BTN3A1_ENST00000425234.2_Silent_p.P173P|BTN3A1_ENST00000414912.2_Intron	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	173	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGGTACCCCCAACCCCAAA	0.537000													54	135					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171472	39171472	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:39171472G>A	ENST00000297668.6	-	8	1300	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	CNTNAP3_ENST00000377659.1_Silent_p.F409F|CNTNAP3_ENST00000358144.2_Silent_p.F321F|CNTNAP3_ENST00000377656.2_Silent_p.F409F|CNTNAP3_ENST00000323947.7_Silent_p.F409F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	409	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGTTCGCCGAAAAGCAAAT	0.507000													34	74					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822683	45822683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45822683C>T	ENST00000177694.1	+	6	1770	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	520					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCCTTCTCCTTTTGATAAG	0.498000													27	68					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297155	9297155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9297155G>A	ENST00000344248.2	+	1	877	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	233					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCATCTGGGGGAAAACAAAAA	0.473000													33	83					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184932298	184932298	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:184932298C>T	ENST00000308497.4	+	3	3742	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	STOX2_ENST00000438269.1_Silent_p.A769A	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	769					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACCAGGAAGCCTCTTTTGACT	0.552000													8	10					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207820	140207820	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140207820C>T	ENST00000529310.1	+	1	258	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I48I|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657000													62	108					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110322028	110322028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:110322028G>A	ENST00000356688.4	-	8	1258	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	SEPT10_ENST00000397714.2_Missense_Mutation_p.H292Y|SEPT10_ENST00000397712.2_Missense_Mutation_p.H315Y|SEPT10_ENST00000545389.1_Missense_Mutation_p.H148Y|SEPT10_ENST00000437928.1_Missense_Mutation_p.H300Y|SEPT10_ENST00000415095.1_Missense_Mutation_p.H315Y|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000334001.6_Missense_Mutation_p.H182Y			Q9P0V9	SEP10_HUMAN	septin 10	315					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGCCTGGTATGGGTCTGCTCT	0.468000													46	65					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421229	12421229	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12421229C>T	ENST00000397026.2	+	4	426	c.43C>T	c.(43-45)Cca>Tca	p.P15S	PPARG_ENST00000397010.2_Missense_Mutation_p.P9S|PPARG_ENST00000397012.2_Missense_Mutation_p.P9S|PPARG_ENST00000397015.2_Missense_Mutation_p.P9S|PPARG_ENST00000397000.1_Missense_Mutation_p.P9S|PPARG_ENST00000539812.1_Missense_Mutation_p.P7S|PPARG_ENST00000309576.6_Missense_Mutation_p.P9S|PPARG_ENST00000287820.6_Missense_Mutation_p.P37S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	37					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.P37S(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACAGAGATGCCATTCTGGCC	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	101					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17332266	17332266	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:17332266G>A	ENST00000452699.1	-	2	207	c.18C>T	c.(16-18)agC>agT	p.S6S	ATP13A2_ENST00000341676.5_Silent_p.S6S|ATP13A2_ENST00000326735.8_Silent_p.S6S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	6					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACGAGAGGGCTGCTGTCTG	0.542000													10	14					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160278	41160278	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41160278C>T	ENST00000263413.3	-	11	1914	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	C6_ENST00000337836.5_Silent_p.E550E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	550	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCACAGTTCTCACCATAGG	0.458000													67	162					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799972	85799972	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:85799972G>A	ENST00000521268.1	+	8	1924	c.819G>A	c.(817-819)ggG>ggA	p.G273G	RALYL_ENST00000523850.1_Silent_p.G200G|RALYL_ENST00000517638.1_Silent_p.G286G|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.G262G|RALYL_ENST00000521695.1_Silent_p.G273G|RALYL_ENST00000522455.1_Silent_p.G273G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	273							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGACAGATGGGATAGAGGAGG	0.483000													43	79					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776314	53776314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53776314C>T	ENST00000426431.2	+	3	622	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	SP1_ENST00000327443.4_Nonsense_Mutation_p.Q195*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	195	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CACTGGGGCCCAAGTGCAGCA	0.483000													55	106					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692188	74692188	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74692188G>A	ENST00000334011.5	+	9	1762	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	515	ZP.					nuclear envelope	calcium ion binding	p.R515Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGTTGCCACCGGCGAATGCGT	0.602000													79	108					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764809	50764809	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50764809C>T	ENST00000440075.2	+	21	2549	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	MYH14_ENST00000601313.1_Silent_p.A834A|MYH14_ENST00000598205.1_Silent_p.A801A|MYH14_ENST00000596571.1_Silent_p.A793A|MYH14_ENST00000425460.1_Silent_p.A801A|MYH14_ENST00000376970.2_Silent_p.A826A|MYH14_ENST00000262269.8_Silent_p.A834A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	793					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGTCCTGGCCCAGCTGGAAG	0.647000													27	25					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981503	201981503	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201981503C>T	ENST00000359651.3	+	3	3609	c.417C>T	c.(415-417)atC>atT	p.I139I	ELF3_ENST00000367283.3_Silent_p.I139I|ELF3_ENST00000367284.5_Silent_p.I139I|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	139					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCAGTTGGATCATTGAGCTGC	0.567000													41	124					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534822	55534822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55534822G>A	ENST00000220676.1	+	3	909	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254E(1)|p.G64E(1)		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)			TACCCCAAGGGAAATGCAAAG	0.418000													35	71					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605262	7605262	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7605262C>T	ENST00000256861.6	-	14	2691	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.V657V|ITIH5_ENST00000446830.2_Silent_p.V653V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	871					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCCCTCTCCCACCTGAAGGA	0.567000													17	76					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78511854	78511854	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:78511854G>A	ENST00000370759.3	+	1	269	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	GIPC2_ENST00000476882.1_Intron	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	26						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CGAGCCGACGGGCGCGGGCGG	0.741000													8	13					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921923	150921923	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150921923C>T	ENST00000271640.5	+	12	1692	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	SETDB1_ENST00000368969.4_Missense_Mutation_p.S501F|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGTGGGCTCTGGTCATTCC	0.507000													42	198					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564722	102564722	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:102564722G>A	ENST00000260229.4	-	8	1199	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	370	Hemopexin-like 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ACACGTCCTGGAAAACCTAAT	0.408000													57	50					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267454	39267454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39267454G>A	ENST00000373231.4	-	5	980	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	250						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ATCCCAAAGAGGATCCACAGG	0.567000													87	260					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073580	31073580	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31073580G>A	ENST00000538906.1	-	3	1453	c.669C>T	c.(667-669)ccC>ccT	p.P223P	ZNF668_ENST00000300849.4_Silent_p.P223P|ZNF668_ENST00000394983.2_Silent_p.P223P|ZNF668_ENST00000426488.2_Silent_p.P246P|ZNF668_ENST00000535577.1_Silent_p.P223P|ZNF668_ENST00000539836.3_Silent_p.P246P	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCAGAGGAAGGGGCGCTCGC	0.657000													12	33					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987262	72987262	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72987262G>A	ENST00000305632.5	-	5	878	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	TBL2_ENST00000432538.1_Missense_Mutation_p.L177F|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.L213F	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	213										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCCAGATGAGGACAGTGGTG	0.547000													27	99					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364730	25364730	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:25364730C>T	ENST00000330560.3	+	15	3025	c.2548C>T	c.(2548-2550)Cac>Tac	p.H850Y	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.H835Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	850					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAATGGAAATCACACACCATC	0.393000													33	53					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763776	82763776	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:82763776G>A	ENST00000373200.2	+	1	508	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	148					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGGAACACGGGGGACTCACCC	0.682000													13	5					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637182	248637182	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248637182G>A	ENST00000359594.2	+	1	556	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCCAGTCTAGGAAAATCCTGA	0.527000													8	118					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417193	150417193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417193G>A	ENST00000307194.5	+	3	241	c.101G>A	c.(100-102)gGg>gAg	p.G34E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGTTGGGAGAACAGGG	0.572000													94	378					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323921	31323921	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31323921C>T	ENST00000269197.5	+	12	4109	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAGATTTCCTTCTGAGAAG	0.502000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	128					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28626694	28626694	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28626694G>A	ENST00000380982.4	-	5	683	c.602C>T	c.(601-603)tCa>tTa	p.S201L	FLT3_ENST00000241453.7_Missense_Mutation_p.S201L|FLT3_ENST00000537084.1_Missense_Mutation_p.S201L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	201					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCCCCTGTGAATCGCAAAG	0.423000			"""Mis, O"""		"""AML, ALL"""								31	76					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2415365	2415365	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:2415365C>T	ENST00000263645.5	+	3	478	c.222C>T	c.(220-222)ttC>ttT	p.F74F	CD81_ENST00000526072.1_Silent_p.F3F|CD81_ENST00000381036.3_Silent_p.F112F|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Silent_p.F80F|CD81_ENST00000492627.1_Silent_p.F3F	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	74					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	p.F74F(1)		endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCATGATGTTCGTTGGCTTCC	0.662000													30	33					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779289	159779289	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159779289C>T	ENST00000321935.6	+	6	809	c.723C>T	c.(721-723)tcC>tcT	p.S241S	FCRL6_ENST00000368106.3_Silent_p.S234S|FCRL6_ENST00000392235.3_Silent_p.S139S|FCRL6_ENST00000339348.5_Silent_p.S234S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	234	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAGGGGCTCCCCTCCGATCC	0.597000													53	50					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	355996	355996	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:355996C>T	ENST00000280886.6	-	32	4048	c.3961G>A	c.(3961-3963)Gac>Aac	p.D1321N		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1321						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTCTCATGTCCACGTAGACA	0.478000													36	71					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95709865	95709865	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:95709865C>T	ENST00000429514.2	+	3	345	c.139C>T	c.(139-141)Cct>Tct	p.P47S	RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Missense_Mutation_p.P62S|RWDD3_ENST00000370202.4_Missense_Mutation_p.P62S			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	62	RWD.		V -> A (in dbSNP:rs259358).			cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTCAATTATCCTTCATGTCT	0.433000													37	81					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314003	42314003	+	Splice_Site	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42314003A>T	ENST00000357396.3	+	4	784	c.542_splice	c.e4-1	p.R181_splice	CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	181						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCTTTCCTAGAACCAGCATCC	0.577000													155	334					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90354494	90354494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:90354494G>A	ENST00000371939.3	+	6	714	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	134					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CAGACAAGAGGAAATATTTTA	0.338000													47	69					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431380	38431380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38431380G>A	ENST00000356264.2	-	19	2062	c.1847C>T	c.(1846-1848)tCt>tTt	p.S616F	AMPH_ENST00000325590.5_Missense_Mutation_p.S574F|AMPH_ENST00000428293.2_Missense_Mutation_p.S574F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	616					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAATTCCTGAGAGGCCTCCCT	0.507000													35	66					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736338	27736338	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27736338G>A	ENST00000430629.2	-	8	1402	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	396	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		aggaggaggaggagggggagg	0.647000													30	39					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830196	830196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:830196G>A	ENST00000293892.3	-	3	804	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	514					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GTCCCGGCGGGAGCAGGGGCC	0.687000													3	29					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043659	74043659	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74043659C>T	ENST00000409561.1	+	3	2430	c.2309C>T	c.(2308-2310)cCa>cTa	p.P770L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	770										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCATCCCGACCAGCTCCTACC	0.547000													25	38					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6264018	6264018	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:6264018C>T	ENST00000400104.3	-	5	347	c.147G>A	c.(145-147)caG>caA	p.Q49Q	L3MBTL4_ENST00000400105.2_Silent_p.Q49Q|L3MBTL4_ENST00000317931.7_Silent_p.Q49Q|L3MBTL4_ENST00000284898.6_Silent_p.Q49Q			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	49					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACCATGCTCCCTGTGCAGCCG	0.423000													36	97					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49667581	49667581	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49667581C>T	ENST00000339139.4	-	6	443	c.207G>A	c.(205-207)acG>acA	p.T69T		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	69						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTTGGGCATTCGTTGTTACCT	0.343000													28	55					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361169	107361169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107361169G>A	ENST00000374779.2	-	1	619	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGTGAAATGATTGATGATG	0.448000													77	140					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222797	156222797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156222797G>A	ENST00000361813.5	-	18	2719	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	859					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGGGTGTCAGGGACGAGGTAG	0.607000													11	30					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242171	4242171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:4242171G>A	ENST00000399609.3	-	6	1417	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	SRL_ENST00000537996.1_Missense_Mutation_p.R427C	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	928	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCCTGTAGCGATTTTTTGGT	0.532000													72	153					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327864	152327864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152327864C>T	ENST00000388718.5	-	3	2470	c.2398G>A	c.(2398-2400)Ggc>Agc	p.G800S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	800	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTTGAGCCTGACCCATGT	0.522000													8	653					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940669	36940669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36940669G>A	ENST00000454319.1	-	5	604	c.470C>T	c.(469-471)cCa>cTa	p.P157L	ZNF566_ENST00000493391.1_Missense_Mutation_p.P52L|ZNF566_ENST00000424129.2_Missense_Mutation_p.P156L|ZNF566_ENST00000434377.2_Missense_Mutation_p.P156L|ZNF566_ENST00000392170.2_Missense_Mutation_p.P157L	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGTGAAGGATGGATGGTGACT	0.388000													72	159					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82868241	82868241	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82868241G>A	ENST00000265077.3	+	13	10307	c.9742G>A	c.(9742-9744)Gag>Aag	p.E3248K	VCAN_ENST00000502527.2_Missense_Mutation_p.E507K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.E1446K|VCAN_ENST00000342785.4_Missense_Mutation_p.E1494K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E2261K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3248	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAGCAATACGAGAATTGGAG	0.418000													40	99					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101529477	101529477	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101529477C>T	ENST00000284395.5	+	7	1027	c.627C>T	c.(625-627)ttC>ttT	p.F209F	LRRK1_ENST00000532029.2_Silent_p.F212F|LRRK1_ENST00000388948.3_Silent_p.F212F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	212					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGCAATATTCCTGCTTCGGC	0.463000													44	146					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676405	11676405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:11676405C>T	ENST00000423059.3	-	2	625	c.374G>A	c.(373-375)aGa>aAa	p.R125K	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	125						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGTCCCAGTCTCCAGTCGTA	0.463000										HNSCC(18;0.044)			33	57					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288779	33288779	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33288779G>A	ENST00000374542.5	-	3	977	c.773C>T	c.(772-774)cCc>cTc	p.P258L	DAXX_ENST00000414083.2_Missense_Mutation_p.P183L|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.P258L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	258					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCACGGTAGGGGATGCGCTG	0.582000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								31	196					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713442	102713442	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:102713442G>A	ENST00000299855.5	-	2	567	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	104					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CGGGATGCCAGGAAAGGTTCT	0.478000													29	14					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898705	36898705	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36898705G>A	ENST00000429976.2	-	12	2623	c.2376C>T	c.(2374-2376)atC>atT	p.I792I	TRANK1_ENST00000428977.2_Silent_p.I242I|TRANK1_ENST00000301807.6_Silent_p.I242I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	792					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTGCACTCGATCTCCCAGG	0.493000													120	260					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435916	435916	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:435916G>A	ENST00000338977.5	-	2	2352	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.P780P|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTCTTTC	0.353000													15	28					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425071	113425071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113425071C>T	ENST00000392583.2	+	2	613	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	OAS2_ENST00000342315.4_Nonsense_Mutation_p.Q136*|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Nonsense_Mutation_p.Q136*	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	136	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACAAAAAATCAGAGAATCTC	0.483000													21	63					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527037	100527037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100527037G>A	ENST00000471714.1	-	50	3780	c.3671C>T	c.(3670-3672)tCa>tTa	p.S1224L	ABI3BP_ENST00000284322.5_Missense_Mutation_p.S547L|ABI3BP_ENST00000383691.4_Missense_Mutation_p.S501L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	547						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGGGCGTGGTGATGTTTTTGG	0.403000													10	18					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846140	230846140	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:230846140G>T	ENST00000366667.4	-	2	671	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	153					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TCAGCTGTGTGGTCCAAGGCT	0.617000													13	198					1.05317e-09	1.05911e-09	1	1	0
RBM26	64062	broad.mit.edu	37	13	79943035	79943035	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:79943035G>A	ENST00000438737.2	-	6	1165	c.725C>T	c.(724-726)tCa>tTa	p.S242L	RBM26_ENST00000267229.7_Missense_Mutation_p.S242L|RBM26_ENST00000438724.1_Missense_Mutation_p.S242L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	242					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTGGCCAGATGAAATACTAGG	0.393000													38	60					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129474327	129474327	+	Splice_Site	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:129474327A>C	ENST00000218197.5	+	1	302	c.75_splice	c.e1+1	p.G25_splice	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Intron|SLC25A14_ENST00000543953.1_Intron|SLC25A14_ENST00000361980.5_Intron|SLC25A14_ENST00000545805.1_Splice_Site_p.G25_splice	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	25					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTGTAAGCGGAGTAAGCAAAC	0.478000													43	13					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479973	66479973	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:66479973G>A	ENST00000256447.4	-	3	855	c.698C>T	c.(697-699)cCa>cTa	p.P233L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	233					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGACAAATTTGGAGTTCCTCC	0.398000													32	66					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326390	15326390	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:15326390C>T	ENST00000344693.5	-	0	817					NR_027270.1																						TTCTCACCTTCTCCTTTTCCA	0.468000													39	75					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189789	58189789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58189789G>A	ENST00000318203.5	+	5	1515	c.818G>A	c.(817-819)gGg>gAg	p.G273E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	273					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGGAGCAGGGTGTATCTCT	0.493000													38	91					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535470	90535470	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90535470C>T	ENST00000602681.1	+	0	1374																											CTGCACTTTTCCCTCACCCAC	0.607000													10	414					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119209528	119209528	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:119209528C>T	ENST00000295588.4	+	9	1012	c.928C>T	c.(928-930)Cac>Tac	p.H310Y		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	310						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GCCATGGGTTCACTATATCCC	0.433000													61	119					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918340	70918340	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70918340C>T	ENST00000334414.6	-	33	6580	c.6536G>A	c.(6535-6537)aGa>aAa	p.R2179K	RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1961K|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R2091K|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1961					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGGACATCTCTTACACACTG	0.428000													18	46					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66850188	66850188	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:66850188C>T	ENST00000341509.5	-	8	925	c.794G>A	c.(793-795)gGg>gAg	p.G265E	LCTL_ENST00000537670.1_Missense_Mutation_p.G92E	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	265					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACAGGTTCCCCCCAGTCACA	0.527000													76	141					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29001985	29001985	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29001985C>T	ENST00000282397.4	-	9	1431	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	FLT1_ENST00000541932.1_Missense_Mutation_p.D394N|FLT1_ENST00000539099.1_Missense_Mutation_p.D394N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	394	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|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)	TCAGTTACGTCCTTGATAATT	0.388000													40	101					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445800	150445800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150445800C>T	ENST00000401000.4	+	10	4363	c.4298C>T	c.(4297-4299)cCc>cTc	p.P1433L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1459L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1459	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCTTCCCTCCCAGGTACTGA	0.443000													5	148					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55832339	55832339	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55832339G>A	ENST00000326652.4	-	3	248	c.66C>T	c.(64-66)atC>atT	p.I22I	TMEM150B_ENST00000438693.1_Silent_p.I22I			A6NC51	T150B_HUMAN	transmembrane protein 150B	22						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ACACTCACACGATCCAGACGC	0.632000													16	36					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160230123	160230123	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160230123A>C	ENST00000275275.5	+	9	854	c.683A>C	c.(682-684)aAg>aCg	p.K228T	PNLDC1_ENST00000392167.3_Missense_Mutation_p.K239T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	228						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTGTTGGAAGGAAAATATT	0.428000													41	89					0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780714	39780714	+	Silent	SNP	G	G	A	rs11553456		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39780714G>A	ENST00000311208.8	-	1	115	c.48C>T	c.(46-48)ggC>ggT	p.G16G	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	16	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGCCGGAGGAGCCCTTGATGG	0.716000													22	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676123	100676123	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100676123C>T	ENST00000306151.4	+	3	1490	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	476	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)					TTCAACAACTCCTGTTGACTC	0.488000													232	707					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744662	81744662	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81744662G>A	ENST00000555447.1	-	6	1405	c.993C>T	c.(991-993)ttC>ttT	p.F331F	STON2_ENST00000267540.2_Silent_p.F331F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	331					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGAAAGCACTGAAAGGGTTGA	0.522000													4	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432606	179432606	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179432606C>T	ENST00000589042.1	-	326	78477	c.78253G>A	c.(78253-78255)Gcc>Acc	p.A26085T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17145T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24444T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23517T|TTN_ENST00000460472.2_Missense_Mutation_p.A17020T|TTN_ENST00000342175.6_Missense_Mutation_p.A17212T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24444	Ig-like 126.						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)			GGATCTCTGGCTACATAGCAT	0.408000													95	181					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41719705C>T	ENST00000400454.1	-	6	1579	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E368Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512000													118	237					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60750126	60750126	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:60750126C>T	ENST00000395076.4	+	2	1135	c.705C>T	c.(703-705)atC>atT	p.I235I	PPM1A_ENST00000529574.1_Silent_p.I235I|PPM1A_ENST00000325658.3_Silent_p.I235I|PPM1A_ENST00000325642.3_Silent_p.I308I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	235					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGTTCATTATCCTTGCATGTG	0.413000													61	109					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972499	92972499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:92972499G>A	ENST00000523629.1	-	12	2240	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P559S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P559S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P569S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P596S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P569S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P559S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P607S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	596					generation of precursor metabolites and energy	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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATGGTGGAAGGGGTTCCCGGG	0.587000													8	12					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364140	79364140	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79364140G>A	ENST00000444841.1	-	0	285																											ACAGAAAAAGGACAGCACAGA	0.463000													15	28					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44671902	44671902	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:44671902C>T	ENST00000299957.6	+	7	1116	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CASC4_ENST00000345795.2_Missense_Mutation_p.P273S|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	273						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AAGGAAGCCTCCTATTTCAGT	0.348000													49	152					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003615	34003615	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34003615G>A	ENST00000382491.3	-	28	4395	c.4271C>T	c.(4270-4272)tCt>tTt	p.S1424F	SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1510F|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1471F	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1471	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTTAATGTAGACTGGCCCTG	0.438000													58	124					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254685	219254685	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:219254685T>C	ENST00000233202.6	+	9	1228	c.888T>C	c.(886-888)ttT>ttC	p.F296F	SLC11A1_ENST00000539932.1_Silent_p.F178F	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	296					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCTCCTTTATCATCAACC	0.557000													13	62					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349963	100349963	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100349963C>T	ENST00000542585.1	+	0	2383				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCACCATCCCCA	0.522000													55	194					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072751	9072751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9072751C>T	ENST00000397910.4	-	3	14898	c.14695G>A	c.(14695-14697)Gag>Aag	p.E4899K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4901	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						ATGCTGGTCTCCCTCAGTTTA	0.488000													72	157					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13071106	13071106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:13071106C>T	ENST00000506447.1	+	28	5323	c.5243C>T	c.(5242-5244)tCt>tTt	p.S1748F	CEP192_ENST00000430049.2_Missense_Mutation_p.S1273F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1152F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1343										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAGTCATTTCTTCAGGAAGT	0.413000													8	124					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372459	43372459	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43372459G>A	ENST00000244296.2	-	5	1174	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	PSG1_ENST00000595124.1_Missense_Mutation_p.S253L|PSG1_ENST00000436291.2_Missense_Mutation_p.S346L|PSG1_ENST00000403380.3_Missense_Mutation_p.S253L|PSG1_ENST00000312439.6_Missense_Mutation_p.S346L|PSG1_ENST00000595356.1_Missense_Mutation_p.S346L	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GACTTCTCCTGAACGGTAATA	0.473000													64	112					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942217	144942217	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144942217C>T	ENST00000525985.1	-	2	5276	c.5205G>A	c.(5203-5205)gaG>gaA	p.E1735E				P58107	EPIPL_HUMAN	epiplakin 1	1735						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGTGAGGTTCTCGTGCGTGT	0.582000													6	189					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635987	7635987	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7635987C>T	ENST00000359156.4	-	12	3266	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	CD163_ENST00000432237.2_Missense_Mutation_p.E1022K|CD163_ENST00000396620.3_Missense_Mutation_p.E1055K|CD163_ENST00000541972.1_Missense_Mutation_p.E1010K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1022	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						GCAGCGTCTTCCTTGTGCCCA	0.522000													22	39					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447540	110447540	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110447540G>A	ENST00000378402.5	+	29	3566	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1154					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTGTTTATCAGAGTCAGATCT	0.433000										HNSCC(38;0.096)			24	266					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625613	74625613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74625613G>A	ENST00000321288.5	+	19	2599	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000268082.4_Missense_Mutation_p.E257K|CCDC33_ENST00000558821.1_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	849							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGGCTACAAGAGACGCATGG	0.632000													8	6					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033194	55033194	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:55033194C>T	ENST00000374987.3	+	6	949	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	295					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGCCTCTTTCCTGCTGCCTGA	0.597000								Other BER factors					19	6					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956853	165956853	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:165956853A>G	ENST00000360093.3	-	22	4416	c.3925T>C	c.(3925-3927)Tta>Cta	p.L1309L	SCN3A_ENST00000283254.7_Silent_p.L1309L|SCN3A_ENST00000409101.3_Silent_p.L1260L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1309						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGAGGTCTTAAAGCTCTTAAT	0.383000													52	52					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277236	186277236	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186277236G>A	ENST00000445192.2	+	7	2430	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K754K|PRG4_ENST00000367485.4_Silent_p.K702K|PRG4_ENST00000367486.3_Silent_p.K752K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	795	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						CTACTCCCAAGAAGCCTGCCC	0.587000													7	490					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466120	24466120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:24466120C>T	ENST00000382137.3	-	3	378	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G104R|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	104	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTGCAAGCCCCTTGGGGCCA	0.552000													32	126					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138701863	138701863	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:138701863A>G	ENST00000520602.1	-	10	1155	c.870T>C	c.(868-870)ctT>ctC	p.L290L	MCF2_ENST00000519895.1_Silent_p.L290L|MCF2_ENST00000338585.6_Silent_p.L230L|MCF2_ENST00000414978.1_Silent_p.L290L|MCF2_ENST00000370578.4_Silent_p.L375L|MCF2_ENST00000370573.4_Silent_p.L230L|MCF2_ENST00000370576.4_Silent_p.L230L|MCF2_ENST00000536274.1_Silent_p.L191L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	230					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGTCACAAGCTAAAAAT	0.279000													20	20					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535831	24535831	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:24535831G>A	ENST00000264463.4	-	4	1134	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	209	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTCCACAGAGAAATAGGGCT	0.438000										HNSCC(23;0.051)			23	24					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42560815	42560815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42560815C>T	ENST00000433647.1	+	4	786	c.162C>T	c.(160-162)tcC>tcT	p.S54S	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Silent_p.S95S|VIPR1_ENST00000543411.1_Silent_p.S48S	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	95					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCTTCTCCTCCATTCAAGGTA	0.582000													10	54					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425309	37425309	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37425309C>T	ENST00000397225.2	+	3	1563	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MPST_ENST00000397129.1_Silent_p.F236F|MPST_ENST00000341116.3_Silent_p.F216F|MPST_ENST00000401419.3_Silent_p.F216F|MPST_ENST00000429360.2_Silent_p.F216F|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000404802.3_Silent_p.F216F			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	216	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCACAGACTTCCTGAGCCAGG	0.572000													18	40					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680625	72680625	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72680625G>A	ENST00000261180.4	+	2	1040	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	315					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAGGAAGATGGATGGGTTACG	0.408000													52	102					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384020	25384020	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25384020T>C	ENST00000405623.1	-	3	1189	c.734A>G	c.(733-735)aAg>aGg	p.K245R	POMC_ENST00000264708.3_Missense_Mutation_p.K245R|POMC_ENST00000395826.2_Missense_Mutation_p.K245R|POMC_ENST00000380794.1_Missense_Mutation_p.K245R			P01189	COLI_HUMAN	proopiomelanocortin	245					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CGTCTGGCTCTTCTCGGAGGT	0.642000													33	58					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104473325	104473325	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:104473325C>T	ENST00000229330.4	+	4	680	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	192					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAGAGAATCCCACACAGCTG	0.433000													43	109					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960608	150960608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150960608G>A	ENST00000368947.4	+	11	1215	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	247					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAGCTGGAGGAGGCTGTCCA	0.527000													35	103					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57829662	57829662	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:57829662G>A	ENST00000264230.4	-	7	3288	c.2051C>T	c.(2050-2052)tCc>tTc	p.S684F		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	684							GTP binding										GTACATAAGGGAAGGAGGCTT	0.408000													79	204					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012367	140012367	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140012367G>A	ENST00000302014.6	-	2	831	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	CD14_ENST00000401743.2_Missense_Mutation_p.P68S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	68					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGAAACGGCTCTAGGTTG	0.632000													23	59					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13523066	13523066	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:13523066G>A	ENST00000341083.3	-	6	1036	c.740C>T	c.(739-741)tCt>tTt	p.S247F	BEND7_ENST00000396898.2_Missense_Mutation_p.S312F|BEND7_ENST00000396900.2_Missense_Mutation_p.S299F|BEND7_ENST00000378605.3_Missense_Mutation_p.S260F	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	299							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGACAATATAGAGTCCAGCTG	0.403000													35	93					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4546239	4546239	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4546239C>T	ENST00000586582.1	-	16	2037	c.1727G>A	c.(1726-1728)gGg>gAg	p.G576E	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G576E|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G576E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	576					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCAGTCCCCTAAGCCTGA	0.647000													13	29					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247590	164247590	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:164247590C>T	ENST00000296533.2	-	2	648	c.117G>A	c.(115-117)atG>atA	p.M39I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	39					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGTAAATATCATGGCCAAGG	0.408000													31	73					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902300	60902300	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:60902300G>A	ENST00000252999.3	-	38	5167	c.5101C>T	c.(5101-5103)Ctg>Ttg	p.L1701L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1701	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTCCCCCAGGTAGGAGGGT	0.682000													5	13					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55538499	55538499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55538499G>A	ENST00000294383.6	-	65	7561	c.7562C>T	c.(7561-7563)tCc>tTc	p.S2521F	USP24_ENST00000407756.1_Missense_Mutation_p.S2361F|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2521					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CCAGTGGTGGGAATTCTCCTT	0.418000													3	18					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177676189	177676189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:177676189C>T	ENST00000390654.3	-	19	1435	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	360	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGGGTCTCCTTTCTGTCCT	0.617000													7	333					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072521	9072521	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9072521G>A	ENST00000397910.4	-	3	15128	c.14925C>T	c.(14923-14925)acC>acT	p.T4975T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4977	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						CTGTTTGGGTGGTGATGGTTA	0.498000													34	85					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376071	67376071	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67376071C>T	ENST00000322776.6	+	3	357	c.204C>T	c.(202-204)atC>atT	p.I68I	NDUFV1_ENST00000415352.2_Silent_p.I61I|NDUFV1_ENST00000532303.1_5'UTR|NDUFV1_ENST00000529927.1_Silent_p.I59I	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CAAAGGAGATCCTGCTGAAGG	0.592000													86	187					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814824	137814824	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:137814824C>T	ENST00000367734.2	-	1	707	c.484G>A	c.(484-486)Ggg>Agg	p.G162R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CCCACGGTCCCGCAGTGAAAG	0.672000													16	47					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060278	16060278	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16060278C>T	ENST00000322107.1	+	1	461	c.461C>T	c.(460-462)tCa>tTa	p.S154L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGGTGGCTCAGTCATGGGG	0.512000													61	114					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80993322	80993322	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:80993322G>A	ENST00000555265.1	-	23	3338	c.2963C>T	c.(2962-2964)tCc>tTc	p.S988F	CEP128_ENST00000281129.3_Missense_Mutation_p.S988F|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	988						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAACTGCAGGAATCCTGGAA	0.363000													22	45					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261927	23261927	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23261927G>A	ENST00000450802.3	+	12	1137	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K																								TCGGGAGCAGGAAGAGAGGCT	0.572000													18	38					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793085	46793085	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46793085G>A	ENST00000230588.4	+	8	642	c.633G>A	c.(631-633)ttG>ttA	p.L211L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	211	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATGAGTCTTTGATGCACTACC	0.438000													9	127					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990120	63990120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:63990120C>T	ENST00000370657.4	-	4	1369	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	446					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGGTAAAAGTCTGTGCTCTCA	0.483000													33	83					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643276	94643276	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:94643276C>T	ENST00000260526.6	-	22	2979	c.2796_splice	c.e22-1	p.D933_splice	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	933					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.D933N(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTATGGATATCCTGTTGATGC	0.303000													23	54					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351982	132351982	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:132351982C>T	ENST00000310125.4	-	1	394	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	102						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTCTCCTTTCCTGTTGTGCT	0.582000													65	34					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000823	41000823	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41000823G>A	ENST00000399564.4	-	38	4757	c.4307C>T	c.(4306-4308)tCa>tTa	p.S1436L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGAAGGAATGAAATCAGGCT	0.473000													12	19					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107423798	107423798	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107423798C>T	ENST00000334504.7	-	25	2311	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G693E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G693E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G694E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G694E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	694	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTTACTTCCACTTGACCC	0.522000									Alport syndrome with Diffuse Leiomyomatosis				6	27					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451089	10451089	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10451089C>T	ENST00000245503.5	-	3	533	c.149G>A	c.(148-150)gGg>gAg	p.G50E	MYH2_ENST00000397183.2_Missense_Mutation_p.G50E|MYH2_ENST00000532183.1_Missense_Mutation_p.G50E|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	50	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGATGGTCCCTTTGACAAA	0.493000													64	102					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734897	92734897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92734897G>A	ENST00000379958.2	-	3	783	c.514C>T	c.(514-516)Cca>Tca	p.P172S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	172						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAACGATATGGATTACTGAAT	0.363000													68	196					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463947	50463947	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50463947C>T	ENST00000447370.2	-	2	412	c.322G>A	c.(322-324)Gat>Aat	p.D108N	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.D108N	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	108	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTGCCGGGATCCCCAGTGAGC	0.592000													23	82					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54562032	54562032	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:54562032C>T	ENST00000234827.1	+	5	713	c.513C>T	c.(511-513)taC>taT	p.Y171Y	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Silent_p.Y201Y	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	171	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						ATGGGCCGTACCGGCGGACGG	0.498000													12	115					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899412	156899412	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156899412G>A	ENST00000311946.7	+	6	961	c.845G>A	c.(844-846)gGg>gAg	p.G282E	NIPAL4_ENST00000435489.2_Missense_Mutation_p.G263E|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	282						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCACGTTACGGGCAAAGGAAT	0.512000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	185					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123377089	123377089	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:123377089G>A	ENST00000275162.4	+	5	2149	c.814G>A	c.(814-816)Gat>Aat	p.D272N	CLVS2_ENST00000368438.1_Missense_Mutation_p.D126N	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	272					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGAATATGACGATGACAGCGA	0.483000													24	47					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511325	58511325	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:58511325C>T	ENST00000588627.1	-	0	2032																											CTGGTGGTTCCTTGAGGGCTT	0.483000													15	73					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51054745	51054745	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:51054745A>G	ENST00000441560.2	+	3	712	c.231A>G	c.(229-231)agA>agG	p.R77R	ATL1_ENST00000354525.4_Silent_p.R77R|ATL1_ENST00000358385.6_Silent_p.R77R|ATL1_ENST00000357032.3_Silent_p.R77R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	77					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GAGCATTTAGAAAAGGAAAAT	0.398000													18	144					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260554	65260554	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65260554C>T	ENST00000389722.3	-	13	1880	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SPTB_ENST00000556626.1_Silent_p.Q609Q|SPTB_ENST00000389720.3_Silent_p.Q609Q|SPTB_ENST00000389721.5_Silent_p.Q609Q|SPTB_ENST00000542895.1_Silent_p.Q609Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	609					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGATGCGGTCCTGGATGACCT	0.562000													26	56					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137713955	137713955	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:137713955C>T	ENST00000371817.3	+	59	4981	c.4567C>T	c.(4567-4569)Cct>Tct	p.P1523S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1523	Triple-helical region.				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)		TATCACTGGTCCTTCTGGCCC	0.632000													5	174					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204506	27204506	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:27204506T>C	ENST00000343483.6	-	1	643	c.571A>G	c.(571-573)Atc>Gtc	p.I191V	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.I31V|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	191							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTGGGATCGATGGGGGGCTTG	0.592000			T	"""NUP98, MSI2"""	AML*								22	55					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103180884	103180884	+	Missense_Mutation	SNP	C	C	T	rs77981773		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:103180884C>T	ENST00000262241.6	+	8	1209	c.983C>T	c.(982-984)tCt>tTt	p.S328F	RCOR1_ENST00000570597.1_Missense_Mutation_p.S325F	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	325	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GAGGCTGTTTCTGCCAATGCC	0.418000													33	68					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514873	233514873	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233514873G>A	ENST00000366624.3	+	9	2382	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	MLK4_ENST00000366622.1_Silent_p.T153T	NM_032435.2	NP_115811.2																					TGACTCCTACGAATAGTCTGA	0.542000													33	90					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289689	18289689	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:18289689C>T	ENST00000377369.2	+	11	1967	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S564L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S528L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S431L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	565	Poly-Ser.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCCTTCTCATCATCATCCGAG	0.448000													33	69					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036565	13036565	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:13036565G>A	ENST00000376187.1	+	2	637	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	213										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CCAAGTGTTGGAAATTTGGAA	0.423000													73	206					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412918	124412918	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124412918G>A	ENST00000306842.2	-	1	657	c.633C>T	c.(631-633)gtC>gtT	p.V211V		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TAAAGACAGTGACAATGGGCA	0.463000													16	15					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589344	169589344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169589344G>A	ENST00000261509.6	+	3	1123	c.912G>A	c.(910-912)tgG>tgA	p.W304*	PALLD_ENST00000505667.1_Nonsense_Mutation_p.W304*|PALLD_ENST00000333488.4_Nonsense_Mutation_p.W181*|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	304	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCTGCAGATGGTTCTGTGAAG	0.463000									Pancreatic Cancer, Familial Clustering of				48	82					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166959054	166959054	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:166959054C>T	ENST00000367872.4	+	2	457	c.213C>T	c.(211-213)ccC>ccT	p.P71P	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	71					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACCCTGGGCCCTCAGAGAAGC	0.512000													9	28					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546833	37546833	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:37546833G>A	ENST00000299824.1	+	11	1417	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E368K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	410					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.E410K(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCTACTCTCCGAATTTCCTAC	0.567000													115	223					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131459	142131459	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142131459G>A	ENST00000390375.2	-	0	336																											CAGCAACAAGGCGTTCACATT	0.498000													47	212					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101574998	101574998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101574998C>T	ENST00000310954.6	-	12	2257	c.1971G>A	c.(1969-1971)tgG>tgA	p.W657*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	657					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TATCATAAATCCAGCAAGCTC	0.323000													6	74					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149767114	149767114	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:149767114C>T	ENST00000370396.2	+	4	249	c.195C>T	c.(193-195)atC>atT	p.I65I	MTM1_ENST00000413012.2_Silent_p.I65I|MTM1_ENST00000542741.1_Intron|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	65	GRAM.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTACATCACAAATTATC	0.294000													32	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613870	179613870	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179613870T>C	ENST00000360870.5	-	46	13479	c.13257A>G	c.(13255-13257)ttA>ttG	p.L4419L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	547	Ig-like 24.						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)			GAATATTTGGTAAATAGTCAC	0.338000													32	47					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000													64	93					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95111508C>T	ENST00000371501.4	-	33	3699	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N			Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413000													41	80					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114332461	114332461	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:114332461C>T	ENST00000407693.2	-	9	1051	c.789G>A	c.(787-789)caG>caA	p.Q263Q	PTGR1_ENST00000538962.1_Silent_p.Q263Q|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Silent_p.Q263Q|PTGR1_ENST00000238248.3_Silent_p.Q140Q	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	263					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TGCGAAGCTCCTGATAGATAA	0.532000													19	38					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974334	128974334	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:128974334G>A	ENST00000522781.1	-	4	881	c.326C>T	c.(325-327)cCc>cTc	p.P109L	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.P109L	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	109										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTAAGGTCGGGCGAGGTCTG	0.562000													24	52					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211159126	211159126	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211159126T>A	ENST00000352451.3	-	4	468	c.321A>T	c.(319-321)aaA>aaT	p.K107N	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.K63N	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	107					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CAAACTCAATTTTCTTGGCAT	0.378000													43	58					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452297	2452297	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2452297G>A	ENST00000378466.3	-	4	483	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	157					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCTTGAGCACGAAGTTGCACC	0.542000													29	61					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126924	104126924	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:104126924G>A	ENST00000388887.2	+	51	5628	c.5424G>A	c.(5422-5424)aaG>aaA	p.K1808K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1808	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAAGCTGAAGGAGTATTTGA	0.478000													5	172					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218994	42218994	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42218994C>T	ENST00000221992.6	+	3	643	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	CEACAM5_ENST00000405816.1_Silent_p.L177L|CEACAM5_ENST00000398599.4_Silent_p.L177L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	177	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CGCAACCTACCTGTGGTGGGT	0.552000													82	221					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823371	209823371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209823371G>A	ENST00000391911.1	-	2	510	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F	LAMB3_ENST00000356082.4_Missense_Mutation_p.L41F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L41F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	41	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAAGCTCGGAGAAACCGGGTC	0.612000													56	64					0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134363754	134363754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134363754C>T	ENST00000393132.2	+	4	1240	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	BPGM_ENST00000344924.3_Nonsense_Mutation_p.Q251*|BPGM_ENST00000418040.1_Nonsense_Mutation_p.Q251*	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	251					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AGTAGAAGATCAAGGAAAAGT	0.433000													34	138					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2338178	2338178	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2338178G>A	ENST00000288774.3	-	4	844	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	PEX10_ENST00000507596.1_Missense_Mutation_p.R253C|PEX10_ENST00000447513.2_Missense_Mutation_p.R253C	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	253					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GACAGGCCGCGGTGCAGCCTC	0.667000													7	20					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555548	102555548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:102555548G>A	ENST00000251808.3	+	2	438	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	GRHL2_ENST00000395927.1_Missense_Mutation_p.E18K	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	34	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGTGAGGATGAAGCCTGGAA	0.502000													72	118					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382524	41382524	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41382524G>A	ENST00000377801.3	-	2	290	c.216C>T	c.(214-216)ctC>ctT	p.L72L	PLCXD3_ENST00000328457.3_Silent_p.L72L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	72	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATTTCCGCATGAGCTTTTTGG	0.463000													42	119					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294270	31294270	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31294270G>A	ENST00000265071.2	+	3	695	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CDH6_ENST00000514738.1_Missense_Mutation_p.E89K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCGAGTCTGAATTCATCAT	0.483000													95	176					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812028	140812028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140812028C>T	ENST00000252085.3	+	1	1844	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACGGACGG	0.677000													111	221					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911653	107911653	+	Missense_Mutation	SNP	C	C	T	rs104886393		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:107911653C>T	ENST00000328300.6	+	41	3953	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1237S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1237	Triple-helical region.				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						GCAGGGTCCCCCAGGCCCTCC	0.602000									Alport syndrome with Diffuse Leiomyomatosis				11	10					0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519786	3519786	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:3519786G>A	ENST00000500728.2	-	5	872	c.726C>T	c.(724-726)agC>agT	p.S242S	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	242	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		AGCCCTGGTGGCTGACCCTGC	0.652000													25	40					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21646079	21646079	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21646079C>T	ENST00000328843.6	+	19	3715	c.3684C>T	c.(3682-3684)atC>atT	p.I1228I	DNAH11_ENST00000409508.3_Silent_p.I1228I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1228	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAAAAAGATCGCAGCAACTG	0.373000									Kartagener syndrome				6	29					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49557594	49557594	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:49557594C>T	ENST00000561648.1	-	7	3819	c.3766G>A	c.(3766-3768)Gac>Aac	p.D1256N	ZNF423_ENST00000562520.1_Missense_Mutation_p.D1196N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D1139N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D1139N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D1196N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D1256N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D1196N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1256					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TAGATCTTGTCCTCCTGCCCG	0.602000													23	17					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795762	99795762	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99795762C>T	ENST00000426455.1	+	12	1624	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	STAG3_ENST00000317296.5_Missense_Mutation_p.A406V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.A348V			Q9UJ98	STAG3_HUMAN	stromal antigen 3	406					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTGGAGGCTGTCAGATTA	0.498000													60	107					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739168	38739168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38739168C>T	ENST00000449082.2	-	27	5542	c.5543G>A	c.(5542-5544)tGg>tAg	p.W1848*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1848					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCTTGCTTCCATCGGAGAGT	0.473000													44	103					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88936057	88936057	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88936057G>A	ENST00000556564.1	-	17	3305	c.3021C>T	c.(3019-3021)agC>agT	p.S1007S	PTPN21_ENST00000328736.3_Silent_p.S1007S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1007	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTACCTAAAGCTCTTCTCCC	0.507000													22	53					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86308771	86308771	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:86308771G>A	ENST00000263857.6	-	8	1254	c.876C>T	c.(874-876)ttC>ttT	p.F292F	POLR1A_ENST00000409681.1_Silent_p.F292F			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACTGGGATTGAATCTGGATT	0.378000													20	29					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904080	5904080	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:5904080C>T	ENST00000378961.4	+	4	1494	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	430						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGCCTATTTCATGTCTGACA	0.547000													60	97					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605469	140605469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140605469C>T	ENST00000239449.4	+	1	2392	c.2392C>T	c.(2392-2394)Caa>Taa	p.Q798*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.Q645*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		798					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTAACATTCAATAAAACAA	0.333000													29	71					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42563506	42563506	+	Missense_Mutation	SNP	G	G	A	rs141012226		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42563506G>A	ENST00000262895.3	-	5	681	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	GRIK5_ENST00000593562.1_Missense_Mutation_p.R228C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R228C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	228						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTTACGGAGGATGAGG	0.587000													32	69					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19607383	19607383	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19607383C>T	ENST00000350657.5	-	12	1234	c.1060_splice	c.e12+1	p.V354_splice	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Splice_Site_p.V376_splice	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	376						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTCCACCTACCTATGCTGAGC	0.672000													12	21					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128841336	128841336	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:128841336C>T	ENST00000280333.6	+	21	2155	c.2046C>T	c.(2044-2046)atC>atT	p.I682I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	682					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|guanyl-nucleotide exchange factor activity|SH3 domain binding			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)		AGGTATTTATCATTGGACTGA	0.323000													8	18					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000													16	20					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142606700	142606700	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142606700C>T	ENST00000265310.1	-	14	2199	c.1851G>A	c.(1849-1851)ggG>ggA	p.G617G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	617					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)					ACCCACAGATCCCGGAGCGAG	0.592000													44	65					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153035400	153035400	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:153035400G>A	ENST00000285900.5	+	5	1010	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	GRIA1_ENST00000521843.2_Missense_Mutation_p.G154S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G233S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G233S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G223S|GRIA1_ENST00000518142.1_Missense_Mutation_p.G143S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	223					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGAAGAATGGCATCGGCTA	0.438000													45	92					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113676334C>T	ENST00000263326.3	+	5	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_ENST00000311328.2_Missense_Mutation_p.S176L|IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000													33	49					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38812783	38812783	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38812783A>C	ENST00000476049.1	-	6	800	c.759T>G	c.(757-759)ctT>ctG	p.L253L	KRT222_ENST00000394052.3_Silent_p.L253L			Q8N1A0	KT222_HUMAN	keratin 222	253						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGCTAAATGAAGATCAAATC	0.383000													4	123					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24784837	24784837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:24784837C>T	ENST00000533227.1	+	5	408	c.121C>T	c.(121-123)Cga>Tga	p.R41*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.R127*|LUZP2_ENST00000531187.1_3'UTR	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	127						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAATGATCCGAGACCTCCA	0.294000													17	24					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147011072	147011072	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147011072C>T	ENST00000265272.5	-	14	2246	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	JAKMIP2_ENST00000333010.6_Silent_p.E551E|JAKMIP2_ENST00000507386.1_Silent_p.E572E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	593						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTCTCTCTCTCCTTGAAAC	0.363000													28	50					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102568305	102568305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102568305G>A	ENST00000334701.7	-	2	554	c.273C>T	c.(271-273)ttC>ttT	p.F91F	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CGGTGACAGGGAATGCAGAGA	0.522000													7	153					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227667	53227667	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53227667G>A	ENST00000330553.5	-	1	412	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	126	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACATGGAGGGGGGTCAGCA	0.607000													51	119					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216364	8216364	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8216364C>T	ENST00000361926.3	+	3	836	c.726C>T	c.(724-726)tcC>tcT	p.S242S	ARHGEF15_ENST00000421050.1_Silent_p.S242S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	242					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCGGGCCTCCCCGCTGCGGA	0.697000													65	131					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538511	63538511	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:63538511C>T	ENST00000550760.3	+	4	1263	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CAAGAGAATTCATATGGAATT	0.388000													6	19					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143787215	143787215	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:143787215C>T	ENST00000264170.4	+	11	1180	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	KYNU_ENST00000409512.1_Missense_Mutation_p.H308Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	308					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATGGTTTGGCCATGAACTCAG	0.348000													11	87					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234358761	234358761	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234358761G>A	ENST00000264057.2	+	16	2034	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	DGKD_ENST00000409813.3_Silent_p.G630G	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	674					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCCCCAAGGGGAGGAGCCAGC	0.617000													26	36					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280085	22280085	+	RNA	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22280085T>C	ENST00000390431.3	+	0	274																											AACCACTTCTTTCCACTTGGA	0.498000													14	58					0	0	1	0	0
C12orf61	283416	broad.mit.edu	37	12	62996809	62996809	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:62996809G>T	ENST00000408887.2	-	1	405	c.310C>A	c.(310-312)Ccc>Acc	p.P104T	RP11-631N16.2_ENST00000550290.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN	chromosome 12 open reading frame 61	104										cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		GGTGGCCTGGGGACTTCCCGG	0.662000													13	33					1.05317e-09	1.05911e-09	1	1	0
EMILIN1	11117	broad.mit.edu	37	2	27306173	27306173	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27306173G>A	ENST00000380320.4	+	4	2233	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCATGGGGATGAGGGCT	0.657000													26	71					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210722	166210722	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166210722C>T	ENST00000375437.2	+	17	3230	c.2940C>T	c.(2938-2940)gcC>gcT	p.A980A	SCN2A_ENST00000375427.2_Silent_p.A980A|SCN2A_ENST00000357398.3_Silent_p.A980A|SCN2A_ENST00000283256.6_Silent_p.A980A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	980					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCTTCTTGGCCTTGCTTTTGA	0.393000													109	237					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31435209	31435209	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31435209C>T	ENST00000389202.2	+	27	3138	c.3089C>T	c.(3088-3090)cCc>cTc	p.P1030L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1030					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						TGTGACGTCCCCTCCTTCAGC	0.632000													21	74					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926128	8926128	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:8926128G>A	ENST00000256707.3	-	17	2153	c.1972C>T	c.(1972-1974)Cca>Tca	p.P658S	KIDINS220_ENST00000418530.1_Missense_Mutation_p.P616S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P658S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.P659S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P658S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	658	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAAAGATGGGAGACAACAT	0.318000													24	55					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73730952	73730952	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73730952C>T	ENST00000427855.1	+	21	2997	c.2895C>T	c.(2893-2895)atC>atT	p.I965I	PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000554301.1_Silent_p.I965I|PAPLN_ENST00000340738.5_Silent_p.I938I|PAPLN_ENST00000381166.3_Silent_p.I965I|PAPLN_ENST00000555445.1_Silent_p.I949I			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	965	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCTGATCATCCACCCCCTGC	0.632000													31	104					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612312	44612312	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44612312G>A	ENST00000273320.3	+	6	2139	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.Q570Q|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TTCGACATCAGAGCCTCCATA	0.443000													61	86					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323196	79323196	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79323196C>T	ENST00000428286.1	-	8	4117	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1332R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1332					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAGTGGCTCCCTGGGCTTCC	0.527000													26	50					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76877231	76877231	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:76877231G>A	ENST00000356260.5	-	21	2031	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F	SDAD1_ENST00000395711.4_Missense_Mutation_p.S601F|AC110615.1_ENST00000599764.1_Missense_Mutation_p.E59K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	638					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTCGAACTGGAAAATGGATT	0.353000													57	99					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685372	19685372	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:19685372C>T	ENST00000284885.3	-	18	2088	c.2055G>A	c.(2053-2055)acG>acA	p.T685T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	685	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATTGTTGTTCGTtgtgccat	0.443000													26	68					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1610902	1610902	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1610902G>A	ENST00000381580.1	-	5	1212	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	SIRPG_ENST00000478145.2_5'UTR|SIRPG_ENST00000381583.2_Missense_Mutation_p.P267S|SIRPG_ENST00000216927.4_Missense_Mutation_p.P267S|SIRPG_ENST00000344103.4_Missense_Mutation_p.P161S|SIRPG_ENST00000303415.3_Missense_Mutation_p.P378S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	378					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	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						ACGTAGATGGGGCCCAGGAGG	0.592000													4	19					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548122	52548122	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52548122C>T	ENST00000242839.4	-	2	1390	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ATP7B_ENST00000448424.2_Missense_Mutation_p.E412K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E412K|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.E301K|ATP7B_ENST00000418097.2_Missense_Mutation_p.E412K|ATP7B_ENST00000400370.3_Missense_Mutation_p.E412K|ATP7B_ENST00000542656.1_Missense_Mutation_p.E380K	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	412	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTCTGAGTTCTTCTGGGCTA	0.468000									Wilson disease				12	127					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531424	43531424	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43531424G>A	ENST00000430334.3	-	7	1927	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	PLEKHM1_ENST00000421073.2_Silent_p.F509F|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	598	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCTTGCCAGAGAAGACCAGCT	0.647000													9	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642463	179642463	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179642463C>T	ENST00000589042.1	-	25	4672	c.4448G>A	c.(4447-4449)aGa>aAa	p.R1483K	TTN_ENST00000359218.5_Missense_Mutation_p.R1437K|TTN_ENST00000591111.1_Missense_Mutation_p.R1483K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1483K|TTN_ENST00000460472.2_Missense_Mutation_p.R1437K|TTN_ENST00000342175.6_Missense_Mutation_p.R1437K|TTN_ENST00000360870.5_Missense_Mutation_p.R1483K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1483	Ig-like 6.						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)			TGGCATAGGTCTACCAACAAC	0.358000													30	77					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320118	38320118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:38320118C>T	ENST00000379705.3	-	3	1710	c.853G>A	c.(853-855)Gat>Aat	p.D285N	TRPC4_ENST00000379681.3_Missense_Mutation_p.D285N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D285N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D285N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D285N|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.D285N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	285	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTGCAAGATCATTTCCACTT	0.393000													6	319					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35047935	35047935	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35047935G>A	ENST00000231420.6	-	1	263	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	21					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCATCTCAAGGATCCTGGGAG	0.542000													22	56					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30974112	30974112	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:30974112G>A	ENST00000295055.8	-	11	1269	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P365S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	365					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCATTCCGAGGTCCTCCTGCA	0.512000													8	28					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29839764	29839764	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:29839764C>T	ENST00000375398.2	-	8	1038	c.589G>A	c.(589-591)Gag>Aag	p.E197K	SVIL_ENST00000355867.4_Missense_Mutation_p.E197K|SVIL_ENST00000375400.3_Missense_Mutation_p.E197K			O95425	SVIL_HUMAN	supervillin	197					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCAGCACCTCCGGGTCGGAA	0.602000													52	130					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27564919	27564919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27564919G>A	ENST00000359541.2	-	4	1180	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q251*|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	251						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTCAACCTGGAGAAAAAAG	0.567000													12	80					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								35	97					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11827196	11827196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11827196G>A	ENST00000262442.3	+	62	11883	c.11815G>A	c.(11815-11817)Gaa>Aaa	p.E3939K	DNAH9_ENST00000396001.2_Missense_Mutation_p.E251K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3939K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3939	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGGACAGGAAGTGGTGGC	0.473000													25	75					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315281	73315281	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73315281G>A	ENST00000258098.6	-	3	1705	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	489					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCCAGGATGGGACCCCCCTTT	0.612000													49	139					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36986159	36986159	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36986159G>A	ENST00000282516.8	+	10	3376	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.P959P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	959					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGTCATTCCGAAAATCAAGA	0.383000													59	171					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48921838	48921838	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48921838G>A	ENST00000310194.1	+	2	1032	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AACCCCAAGGGGCCTGCGCAT	0.662000													8	18					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211840535	211840535	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:211840535C>T	ENST00000366999.4	-	7	1162	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	NEK2_ENST00000366998.3_Missense_Mutation_p.E342K|NEK2_ENST00000540251.1_Missense_Mutation_p.E299K|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	342	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AGTTTGTCCTCTGCTAGTCTC	0.378000													11	276					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765854	18765854	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:18765854C>T	ENST00000304081.4	-	4	749	c.649G>A	c.(649-651)Gac>Aac	p.D217N	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D277N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D277N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D277N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCCTCGTAGTCGTCCTCGTCC	0.682000													10	30					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78943055	78943055	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78943055G>A	ENST00000545128.1	+	32	4927	c.4389G>A	c.(4387-4389)gaG>gaA	p.E1463E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	630					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	extracellular space|Golgi lumen|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						ACTGGGATGAGGATGCTCCCG	0.587000													19	267					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19287849	19287849	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19287849C>T	ENST00000395592.2	-	6	837	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	MFAP4_ENST00000299610.4_Missense_Mutation_p.G232S|MFAP4_ENST00000497081.2_Missense_Mutation_p.G257S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	232					cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGTTGATGCCATTGGCATAA	0.587000													14	34					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075526	74075526	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74075526C>T	ENST00000334586.5	+	2	187	c.104C>T	c.(103-105)cCa>cTa	p.P35L	ZACN_ENST00000392503.2_Missense_Mutation_p.P35L	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	35					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TCAGTCTGGCCATCCCTCTTC	0.557000													15	81					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065908	35065908	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35065908C>T	ENST00000382002.5	-	10	1578	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.E283E|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.E283E|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	384					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	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)	TTTCAGGATTCTCTGGCTTCT	0.512000													35	114					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28763266	28763266	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:28763266G>A	ENST00000422425.2	+	12	809	c.765G>A	c.(763-765)gaG>gaA	p.E255E	PLB1_ENST00000327757.5_Silent_p.E244E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	244	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTCAGAGGAGACCACCCGGC	0.612000													18	32					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069208	6069208	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:6069208G>A	ENST00000381095.3	-	2	927	c.300C>T	c.(298-300)atC>atT	p.I100I	NLGN4X_ENST00000538097.1_Silent_p.I100I|NLGN4X_ENST00000381093.2_Silent_p.I100I|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.I100I|NLGN4X_ENST00000381092.1_Silent_p.I100I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	100					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TAGTATTTCGGATGCCAGTCC	0.572000													95	25					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85694053	85694053	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:85694053G>A	ENST00000322366.6	-	30	5191	c.4784C>T	c.(4783-4785)cCa>cTa	p.P1595L	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1595L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1595						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGCAAAGGTTGGCAAAGTAGA	0.343000													20	35					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313801	1313801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:1313801G>A	ENST00000296839.2	+	1	1127	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	288	Pro-rich.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CCGCCTCAGGGACACGGCCCC	0.776000													5	15					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26621237	26621237	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26621237C>T	ENST00000256737.3	+	17	2664	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	ANO3_ENST00000531568.1_Silent_p.F458F|ANO3_ENST00000525139.1_Silent_p.F588F|ANO3_ENST00000537978.1_Silent_p.F588F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	604						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTATCAATTTCATAATCATTA	0.378000													30	55					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587966	247587966	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247587966C>T	ENST00000366497.2	+	4	2001	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	NLRP3_ENST00000391827.2_Silent_p.T407T|NLRP3_ENST00000366496.2_Silent_p.T407T|NLRP3_ENST00000336119.3_Silent_p.T407T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.T407T|NLRP3_ENST00000391828.3_Silent_p.T407T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	407	NACHT.		T -> P (in CINCA).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCTTCACCATGTGCTTCA	0.547000													29	93					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240195	134240195	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:134240195C>T	ENST00000535456.2	+	12	1305	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.L373F|GLB1L2_ENST00000389881.3_Missense_Mutation_p.L373F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	373					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGGCATCCCTCTCCCTCCCCC	0.602000													75	78					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408784	130408784	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:130408784G>A	ENST00000370904.1	-	24	4423	c.3513C>T	c.(3511-3513)acC>acT	p.T1171T	IGSF1_ENST00000370910.1_Silent_p.T1171T|IGSF1_ENST00000361420.3_Silent_p.T1180T|IGSF1_ENST00000370903.3_Silent_p.T1185T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1180	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCACTGAAGGGTGATGTCCT	0.493000													109	39					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436189	56436189	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:56436189G>A	ENST00000327381.5	+	3	1456	c.1356G>A	c.(1354-1356)agG>agA	p.R452R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	452						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGGAAGGCAGGACACGCTGCA	0.453000													55	172					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98170201	98170201	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98170201C>T	ENST00000357947.3	-	9	1304	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	360	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAAAAGTTTCCCGTTGTGTC	0.582000													16	52					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055973	92055973	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:92055973G>A	ENST00000256343.3	-	24	3017	c.2861C>T	c.(2860-2862)tCt>tTt	p.S954F		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	954					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATTTCCAAAGAAACTGGATA	0.383000													20	43					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38818546	38818546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:38818546G>A	ENST00000310803.5	-	3	457	c.280C>T	c.(280-282)Cga>Tga	p.R94*	RP11-275I4.1_ENST00000559544.1_RNA|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R145*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R46*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	94	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATGACAATTCGGTGCATGGTC	0.448000													5	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434037	179434037	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179434037G>A	ENST00000589042.1	-	326	77046	c.76822C>T	c.(76822-76824)Ctg>Ttg	p.L25608L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L16668L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L23967L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L23040L|TTN_ENST00000460472.2_Silent_p.L16543L|TTN_ENST00000342175.6_Silent_p.L16735L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23967	Fibronectin type-III 86.						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)			GTGACTTTCAGGTTAACAGGT	0.398000													7	265					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844321	131844321	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131844321G>A	ENST00000359827.3	-	25	5533	c.4571C>T	c.(4570-4572)aCc>aTc	p.T1524I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1524I			Q9HCM2	PLXA4_HUMAN	plexin A4	1524						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGTGATGGTGTCACAGTT	0.532000													204	406					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152370904	152370904	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152370904C>T	ENST00000397345.3	-	159	23257	c.23055G>A	c.(23053-23055)ggG>ggA	p.G7685G	NEB_ENST00000604864.1_Silent_p.G7685G|NEB_ENST00000603639.1_Silent_p.G7685G|NEB_ENST00000172853.10_Silent_p.G5984G|NEB_ENST00000427231.2_Silent_p.G7685G|NEB_ENST00000409198.1_Silent_p.G5984G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5984					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAGGCCCTTCCCACGGATGC	0.453000													102	195					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116457208	116457208	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:116457208C>T	ENST00000281928.3	-	7	1036	c.830G>A	c.(829-831)cGg>cAg	p.R277Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	277					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTAAACCATCCGAACACCACC	0.428000													15	71					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253958	44253958	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44253958G>T	ENST00000371505.4	-	3	711	c.589C>A	c.(589-591)Ctt>Att	p.L197I	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L44I|TCTE1_ENST00000371503.3_Missense_Mutation_p.L44I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	197										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCGGCGGAAGGAACTGATCG	0.647000													43	107					5.34276e-22	5.40099e-22	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766737	77766737	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77766737C>T	ENST00000521891.2	+	10	8028	c.7580C>T	c.(7579-7581)cCg>cTg	p.P2527L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2482L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2482L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2501L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCACTCTCCGTTCTTGGAA	0.507000										HNSCC(33;0.089)			92	136					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646087	71646087	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:71646087G>T	ENST00000408926.3	+	5	1084	c.550G>T	c.(550-552)Gta>Tta	p.V184L	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V184L	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	184						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGATTATCAAGTAGCTTTAAG	0.308000													28	69					6.07407e-21	6.13818e-21	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65623784	65623784	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65623784G>A	ENST00000327987.4	-	8	1613	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	454	Fibronectin type-III 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTAGCCGATGATCTCCTTGG	0.592000													7	76					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54847638	54847638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54847638G>A	ENST00000545554.1	+	28	5886	c.5886G>A	c.(5884-5886)atG>atA	p.M1962I	UNC13C_ENST00000260323.11_Missense_Mutation_p.M1962I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1960I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1962	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAGCACATGATTCGAGAGG	0.408000													9	28					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599959	31599959	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31599959G>A	ENST00000376033.2	+	16	3743	c.3509G>A	c.(3508-3510)cGg>cAg	p.R1170Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1170Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1170	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCATCTCGCCGGGGCCGAGGA	0.687000													29	87					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8740148	8740148	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8740148C>T	ENST00000311434.9	-	6	590	c.351G>A	c.(349-351)ttG>ttA	p.L117L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	117					platelet activation	cytosol											TCGCGCAGTCCAAGGCGACTG	0.552000													10	11					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804231	27804231	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27804231C>T	ENST00000408964.2	+	1	4843	c.4792C>T	c.(4792-4794)Cat>Tat	p.H1598Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1598	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAGGAAAAACCATTCCAGTCC	0.547000													61	140					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44073974	44073974	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44073974C>T	ENST00000262726.7	-	13	1574	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D289N|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	441	EF-hand 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AATTCTGAATCGCTTAGTTTT	0.393000													28	66					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984847	110984847	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110984847T>A	ENST00000524391.1	-	3	1663	c.631A>T	c.(631-633)Atc>Ttc	p.I211F	KCNV1_ENST00000297404.1_Missense_Mutation_p.I211F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	211						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACGCCAAAGATACGGGCAGCT	0.512000													26	69					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52262317	52262317	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52262317G>A	ENST00000321600.1	+	2	329	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		TCTACAGTCAGAATCCTGTAA	0.433000													44	90					0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562391	51562391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:51562391G>A	ENST00000358559.2	+	4	423	c.336G>A	c.(334-336)tgG>tgA	p.W112*	MSMB_ENST00000298239.6_Missense_Mutation_p.G77E	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	112						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						TCAGTGAATGGATAATCTAAT	0.458000													7	136					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004711	75004711	+	Missense_Mutation	SNP	G	G	A	rs140206798	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:75004711G>A	ENST00000373359.2	-	1	368	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597000													5	39					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039638	248039638	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248039638C>T	ENST00000366481.3	+	6	1356	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	436	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTACACATTCAACCAACTCT	0.433000													15	339					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847068	107847068	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:107847068C>T	ENST00000285311.3	-	2	966	c.261G>A	c.(259-261)ggG>ggA	p.G87G	DKK2_ENST00000510463.1_Silent_p.G41G|DKK2_ENST00000513208.1_5'UTR	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	87	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCAATACCTCCCAACTTCAC	0.502000													7	96					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88577679	88577679	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:88577679G>A	ENST00000339673.6	+	2	134	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G12E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	12					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TTCCTTTGGGGATTATCCTGT	0.393000													9	166					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681305	52681305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:52681305G>A	ENST00000298181.5	-	4	435	c.277C>T	c.(277-279)Cag>Tag	p.Q93*		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TACTCACCCTGATTCCCTTGG	0.517000													61	37					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409684	153409684	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153409684C>T	ENST00000368725.2	-	3	188	c.189G>A	c.(187-189)atG>atA	p.M63I		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAAGTAATCCATGTCGCTTT	0.373000													60	79					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41003506	41003506	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41003506C>T	ENST00000352632.3	+	7	865	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SPTBN4_ENST00000598249.1_Missense_Mutation_p.P260L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.P260L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.P260L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.P260L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	260	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCTGGATCCTGAAGGTGAG	0.612000													27	79					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330355	25330355	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25330355G>A	ENST00000546682.1	+	0	339				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GGCATAGAAGGAAGGCCAGTG	0.517000													3	10					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004797	248004797	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004797G>A	ENST00000355784.2	-	1	457	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCATGAGGAAGGGGTAGC	0.582000													79	53					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134493	76134493	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76134493T>G	ENST00000318430.5	+	13	1971	c.1597T>G	c.(1597-1599)Ttc>Gtc	p.F533V	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.F310V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	533						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTCCACCTTCTTCTTCCAGCT	0.632000													9	296					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24640544	24640544	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24640544G>A	ENST00000327365.4	-	1	566	c.150C>T	c.(148-150)tcC>tcT	p.S50S	GGT5_ENST00000263112.7_Silent_p.S50S|GGT5_ENST00000418439.2_Silent_p.S50S|GGT5_ENST00000398292.3_Silent_p.S50S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	50					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCAGACCTTGGAGTCGGCGG	0.647000													64	112					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164728	15164728	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15164728G>A	ENST00000427043.3	+	4	670	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R121Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	121					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CAGGCCCTGCGAGCTAAGCCC	0.527000													6	110					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428093	6428093	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6428093G>A	ENST00000536531.1	+	12	1637	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000396988.3_Intron|PLEKHG6_ENST00000011684.7_Intron			Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	559	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTCAGCGAGGGGAAGGAGGAG	0.562000													14	51					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957861	35957861	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35957861C>T	ENST00000341959.2	-	1	290	c.235G>A	c.(235-237)Gtc>Atc	p.V79I		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGTGGGACTGAGGAGGTA	0.557000													16	45					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373206	86373206	+	Missense_Mutation	SNP	C	C	T	rs147861789		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:86373206C>T	ENST00000604798.1	-	8	2502	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	MGAT4C_ENST00000549405.2_Missense_Mutation_p.G433E|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G433E|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G433E|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G433E|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G462E			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	433					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTGAATTCTCCTAGTCTTAA	0.343000													32	58					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195956824	195956824	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195956824C>T	ENST00000296327.5	+	7	881	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PCYT1A_ENST00000419333.1_3'UTR	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TCAACACTTTCCTTGGCGTGT	0.537000													34	72					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110829347	110829347	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:110829347T>C	ENST00000375820.4	-	34	2875	c.2754A>G	c.(2752-2754)ggA>ggG	p.G918G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	918	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCAGGGTCTCCCCTGGGTC	0.597000													7	56					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576871	28576871	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28576871C>T	ENST00000434452.1	-	15	2533	c.2379G>A	c.(2377-2379)cgG>cgA	p.R793R	DSC3_ENST00000360428.4_Silent_p.R793R	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	793					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCCAGCCCCCCGGCAGGATT	0.512000													21	63					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817419	101817419	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101817419C>T	ENST00000375001.3	+	33	3490	c.3067C>T	c.(3067-3069)Ctg>Ttg	p.L1023L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1023	Nonhelical region 7 (NC7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGACACTTTCTGAACAACTT	0.353000													89	217					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14769226	14769226	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:14769226G>A	ENST00000284268.6	-	2	501	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	57					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTTCATGAGGGAGTACGCCA	0.547000													22	19					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79386016	79386016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:79386016G>A	ENST00000370742.3	-	10	1376	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	438					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ACAAATCAGTGAAATAATTAT	0.303000													8	134					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515238	28515238	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28515238C>T	ENST00000356897.1	-	2	187	c.165G>A	c.(163-165)agG>agA	p.R55R		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	55					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AGAGCAGCTTCCTGGCGAGAT	0.652000													36	76					0	0	1	0	0
SSMEM1	136263	broad.mit.edu	37	7	129855958	129855958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:129855958G>A	ENST00000297819.3	+	3	434	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GAACAAAGACGAGCCAGGCGC	0.483000													4	145					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868627	61868627	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61868627C>T	ENST00000280772.1	-	27	3325	c.3134G>A	c.(3133-3135)aGg>aAg	p.R1045K	ANK3_ENST00000355288.2_Missense_Mutation_p.R179K|ANK3_ENST00000503366.1_Missense_Mutation_p.R1046K|ANK3_ENST00000373827.2_Missense_Mutation_p.R1039K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1045	ZU5.				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						TTCTACCAGCCTACTGGCTAA	0.493000													21	49					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39822843	39822843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39822843C>T	ENST00000216160.6	+	9	1119	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	TAB1_ENST00000331454.3_Missense_Mutation_p.P353S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	353	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CAGGTTCTGCCCCCGGCACGA	0.667000													49	94					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6464002	6464002	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6464002T>G	ENST00000358945.3	-	6	1596	c.1156A>C	c.(1156-1158)Aga>Cga	p.R386R	SCNN1A_ENST00000396966.2_Silent_p.R386R|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000540037.1_Silent_p.R86R|SCNN1A_ENST00000228916.2_Silent_p.R386R|SCNN1A_ENST00000543768.1_Silent_p.R409R|SCNN1A_ENST00000360168.3_Silent_p.R445R			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	386					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCCCCAAGTCTGTCCAGGGTT	0.517000													42	104					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8528696	8528696	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:8528696G>A	ENST00000381196.4	-	12	979	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	PTPRD_ENST00000397617.3_Missense_Mutation_p.L146F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L146F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L146F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L146F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L146F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L146F|PTPRD_ENST00000463477.1_Missense_Mutation_p.L146F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L146F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L146F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L146F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L146F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	146	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGCACAAAGCATGGTGGCC	0.483000										TSP Lung(15;0.13)			57	58					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301823	139301823	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139301823G>A	ENST00000298537.7	-	4	735	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P125L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P198L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	198						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GACCCTCTCGGGGTGAGTCTG	0.662000													4	15					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38131251	38131251	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38131251C>T	ENST00000301659.4	+	10	1123	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	335					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCCTCTATTTCGTTGGAGCCC	0.458000													15	21					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54011354	54011354	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:54011354C>T	ENST00000373980.4	+	10	1518	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PRKG1_ENST00000373985.1_Silent_p.F340F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Silent_p.F70F|PRKG1_ENST00000401604.2_Silent_p.F352F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	352	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGGCTTTCTTCGCCAACCTGA	0.408000													33	50					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6366561	6366561	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6366561C>T	ENST00000325203.5	-	8	1696	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	ANGPT2_ENST00000523120.1_Missense_Mutation_p.G407R|ANGPT2_ENST00000415216.1_Missense_Mutation_p.G407R|ANGPT2_ENST00000338312.6_Missense_Mutation_p.G356R|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	408	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CCGGCTGTCCCTGTAAGTCCT	0.398000													8	166					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139430	101139430	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:101139430C>T	ENST00000458570.1	-	9	1786	c.456G>A	c.(454-456)aaG>aaA	p.K152K	ZMAT1_ENST00000540921.1_Silent_p.K323K|ZMAT1_ENST00000372782.3_Silent_p.K323K|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	152						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAAACAAGTCTTTGGATCTA	0.388000													77	29					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673999	113673999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113673999G>A	ENST00000003302.4	-	23	2811	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	USP28_ENST00000545540.1_Nonsense_Mutation_p.Q758*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q591*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q883*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	915					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTGCCTCTTGGTACCTTAGA	0.473000													34	34					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34646934	34646934	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:34646934G>A	ENST00000537011.1	+	6	1744		c.e6+1		NUTM1_ENST00000333756.4_Splice_Site|NUTM1_ENST00000438749.3_Splice_Site					NUT midline carcinoma, family member 1																		TGTCTCCAAGGTGAGCTGGGC	0.517000													42	101					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416299	30416299	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:30416299C>T	ENST00000333027.3	+	17	2979	c.2651C>T	c.(2650-2652)cCt>cTt	p.P884L	MTMR3_ENST00000406629.1_Missense_Mutation_p.P884L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.P884L|MTMR3_ENST00000323630.5_Missense_Mutation_p.P748L|MTMR3_ENST00000351488.3_Missense_Mutation_p.P884L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	884					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GAACCCAGCCCTTCAGAGACA	0.547000													44	62					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230079	38230079	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38230079C>T	ENST00000339503.4	-	8	1639	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	ZNF573_ENST00000536220.1_Missense_Mutation_p.G350S|ZNF573_ENST00000392138.1_Missense_Mutation_p.G351S|ZNF573_ENST00000357309.3_Missense_Mutation_p.G350S|ZNF573_ENST00000590414.2_Missense_Mutation_p.G438S	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTTTCATGCCAGTATGAATT	0.358000													14	230					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861061	55861061	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55861061C>T	ENST00000302124.2	+	1	309	c.278C>T	c.(277-279)tCc>tTc	p.S93F	OR8I2_ENST00000560768.1_Missense_Mutation_p.S93F			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93C(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)					AGATCCATCTCCTTTGTTGGC	0.388000													32	202					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433355	40433355	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40433355A>G	ENST00000221347.6	-	2	921	c.914T>C	c.(913-915)cTc>cCc	p.L305P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	305	IgGFc-binding.					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)			AGACAGGTAGAGTGGCCAGGA	0.557000													39	66					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123795617	123795617	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123795617G>A	ENST00000420886.2	-	24	3279	c.3280C>T	c.(3280-3282)Ctt>Ttt	p.L1094F	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1093F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1094F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1093F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1094							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCGAGAGTAAGAATTCCCGAG	0.388000													33	61					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749389	51749389	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51749389G>A	ENST00000395052.3	+	4	1834	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	534					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCGATTGGACGAATTCACTTG	0.607000													30	42					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995472	1995472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:1995472C>T	ENST00000382722.5	-	8	1272	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G240R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G240R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G304R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G304R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	304	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATCCTCAGCCCCTTCATACTG	0.493000													26	36					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318089	71318089	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:71318089T>A	ENST00000338099.5	-	3	2071	c.1735A>T	c.(1735-1737)Aag>Tag	p.K579*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.K579*			Q8IYT2	FTSJ1_HUMAN		579						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGGCACTTTATTTGATTG	0.423000													28	20					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592724	38592724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38592724C>T	ENST00000413689.1	-	28	5332	c.5139G>A	c.(5137-5139)tgG>tgA	p.W1713*	SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1695*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1713*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1680*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1695*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1713					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)	GGAGGCCATCCCAGCCGGCCG	0.632000													54	115					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032882	41032882	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41032882C>T	ENST00000380620.3	+	5	988	c.396C>T	c.(394-396)acC>acT	p.T132T	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.T132T|B3GALT5_ENST00000380618.1_Silent_p.T132T|B3GALT5_ENST00000398714.2_Silent_p.T132T			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	132					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACAATCTGACCCTGAAGACCA	0.498000													31	91					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:22749269C>T	ENST00000508166.1	+	0	739				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.R213*(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473000													56	130					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234982	21234982	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21234982C>T	ENST00000233242.1	-	26	4885	c.4758G>A	c.(4756-4758)aaG>aaA	p.K1586K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1586					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATATCCATCTTGTTAGAAG	0.398000													35	61					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895364	237895364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:237895364C>T	ENST00000366574.2	+	78	11271	c.10954C>T	c.(10954-10956)Cca>Tca	p.P3652S	RYR2_ENST00000360064.6_Missense_Mutation_p.P3650S|RYR2_ENST00000542537.1_Missense_Mutation_p.P3636S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3652					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGAACCTCCAGAAGAAGA	0.398000													51	50					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95858788	95858788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:95858788G>A	ENST00000376887.4	-	8	1273	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q312*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	387					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACACCAACCTGGATTCTTCGG	0.468000													36	38					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231988227	231988227	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231988227C>T	ENST00000258400.3	-	2	764	c.252G>A	c.(250-252)aaG>aaA	p.K84K	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	84					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CATACTGCAGCTTCTTCTCCA	0.423000													65	114					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507028	156507028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156507028G>A	ENST00000361170.2	-	27	3377	c.3367C>T	c.(3367-3369)Ctc>Ttc	p.L1123F	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1123	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.L1123F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCATGGCGAGGAGGTTGCGT	0.552000													25	94					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3054021	3054021	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3054021G>T	ENST00000221561.8	-	7	770	c.591C>A	c.(589-591)caC>caA	p.H197Q	AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.H130Q|AES_ENST00000586839.1_Missense_Mutation_p.H74Q	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	130	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACAGCTGGTGGGCTTGGA	0.726000													6	20					0.217242	0.217279	1	1	0
MKL2	57496	broad.mit.edu	37	16	14334148	14334148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:14334148C>T	ENST00000571589.1	+	10	1058	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	MKL2_ENST00000573051.1_Missense_Mutation_p.P245S|MKL2_ENST00000318282.5_Missense_Mutation_p.P296S|MKL2_ENST00000572567.1_Missense_Mutation_p.P285S|MKL2_ENST00000574045.1_Missense_Mutation_p.P296S|MKL2_ENST00000341243.5_Missense_Mutation_p.P285S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	285					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGCAAAGATCCCAAACCACG	0.418000													46	105					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409695	13409695	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13409695C>T	ENST00000360228.5	-	19	2751	c.2752G>A	c.(2752-2754)Ggc>Agc	p.G918S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G919S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	919			E -> D (in dbSNP:rs16022).		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)	TCGGCCTCGCCCTCCCAGAAC	0.776000													8	14					0	0	1	0	0
FCER1G	2207	broad.mit.edu	37	1	161188497	161188497	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161188497C>T	ENST00000289902.1	+	4	207	c.182C>T	c.(181-183)tCa>tTa	p.S61L	FCER1G_ENST00000367992.3_Missense_Mutation_p.S61L|FCER1G_ENST00000490414.1_3'UTR	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	61	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CTGCAGAAATCAGATGGTGTT	0.567000													59	81					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729858	88729858	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88729858C>T	ENST00000340700.5	-	2	526	c.75G>A	c.(73-75)aaG>aaA	p.K25K	KCNK10_ENST00000319231.5_Silent_p.K30K|KCNK10_ENST00000312350.5_Silent_p.K30K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	25					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TAGTGGCGCTCTTGGGCTGGC	0.587000													49	98					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777068	100777068	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100777068G>A	ENST00000223095.4	+	5	950	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.E250K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	265					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGCCCCTTATGAAAAAGAGGT	0.567000													52	152					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808370	241808370	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241808370C>T	ENST00000307503.3	+	1	475	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	30					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGGCCTGGTCCTTCCAACCT	0.647000													5	119					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541565	187541565	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187541565G>A	ENST00000441802.2	-	10	6384	c.6175C>T	c.(6175-6177)Cct>Tct	p.P2059S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2059	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAGAAGGCTTATGTTCC	0.507000										HNSCC(5;0.00058)			71	177					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795114	9795114	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:9795114A>T	ENST00000377298.4	-	14	2794	c.2002T>A	c.(2002-2004)Tct>Act	p.S668T	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S649T|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S658T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	668					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCAAATTCAGAAGCTGCTCGG	0.562000													17	323					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29630127	29630127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:29630127C>T	ENST00000318184.5	-	12	1284	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	429	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGATTTGTCCCTTCTTCTACC	0.448000													20	51					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689700	30689700	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:30689700G>A	ENST00000215790.7	-	8	1154	c.990C>T	c.(988-990)acC>acT	p.T330T	TBC1D10A_ENST00000403362.1_Silent_p.T242T|TBC1D10A_ENST00000403477.3_Silent_p.T337T|RP1-130H16.18_ENST00000447976.1_Silent_p.T204T	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	330						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTCGCTCGATGGTCTCGTACT	0.622000													42	81					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633251	138633251	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:138633251C>T	ENST00000218099.2	+	6	558	c.551C>T	c.(550-552)tCa>tTa	p.S184L	F9_ENST00000394090.2_Missense_Mutation_p.S146L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	184					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTTTCTGTTTCACAAACTTCT	0.353000													49	18					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157242	22157242	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22157242C>T	ENST00000397126.4	-	4	742	c.594G>A	c.(592-594)gaG>gaA	p.E198E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGAATTCTCTCTAGTAT	0.358000													29	72					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100364865	100364865	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100364865G>A	ENST00000273352.3	+	9	1291	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	GPR128_ENST00000475887.1_Silent_p.S46S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CAGCTAAATCGGATTTTAGTC	0.333000													25	55					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875672	42875672	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42875672A>C	ENST00000025301.2	+	8	2965	c.2790A>C	c.(2788-2790)gaA>gaC	p.E930D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	930					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AATGCAGTGAAGCTAGTAGCA	0.353000													35	63					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113146066	113146066	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113146066C>T	ENST00000316851.7	+	18	2504	c.2504C>T	c.(2503-2505)cCc>cTc	p.P835L	NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	845					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|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)		AAGACGGTCCCCAATGACGCC	0.517000													9	14					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204466	56204466	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56204466G>A	ENST00000361673.3	-	5	3166	c.2953C>T	c.(2953-2955)Cct>Tct	p.P985S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	985							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTCCCAAGGAAAACTCACA	0.473000													32	93					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744827	54744827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54744827C>T	ENST00000440558.2	-	5	883	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	LILRA6_ENST00000396365.2_Missense_Mutation_p.A279T|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.A279T|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.A279T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAAGTTGGCCTGGGAGAGC	0.647000													9	210					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185801	117185801	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117185801G>A	ENST00000362057.3	-	7	1587	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	DFNB31_ENST00000374059.3_Silent_p.F122F|DFNB31_ENST00000265134.6_Silent_p.F90F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	473					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGGAGTGAGAACTGGAGGC	0.597000													12	88					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031522	7031522	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7031522C>T	ENST00000535366.1	+	10	1818	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	ENO2_ENST00000544774.1_Missense_Mutation_p.P355S|ENO2_ENST00000545045.2_Missense_Mutation_p.P279S|ENO2_ENST00000538763.1_Missense_Mutation_p.P355S|ENO2_ENST00000541477.1_Missense_Mutation_p.P398S|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000229277.1_Missense_Mutation_p.P398S			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	398					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GACTGGTGCCCCGTGCCGTTC	0.552000													9	89					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783912	9783912	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:9783912G>A	ENST00000304374.2	+	1	655	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	87					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)	GGCCGTGTCAGACCTTTTCGT	0.647000													25	63					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95566251	95566251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95566251G>A	ENST00000526495.1	-	24	4363	c.4072C>T	c.(4072-4074)Cgc>Tgc	p.R1358C	DICER1_ENST00000343455.3_Missense_Mutation_p.R1358C|DICER1_ENST00000393063.1_Missense_Mutation_p.R1358C|DICER1_ENST00000556045.1_Missense_Mutation_p.R256C|DICER1_ENST00000527414.1_Missense_Mutation_p.R1358C|DICER1_ENST00000541352.1_Missense_Mutation_p.R1358C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1358	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTTCCAAGGCGATACAGATTA	0.398000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				52	110					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156474	160156474	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160156474G>A	ENST00000368081.4	+	22	3546	c.3075G>A	c.(3073-3075)agG>agA	p.R1025R	ATP1A4_ENST00000470705.1_Silent_p.R161R	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1025					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGTGGAAAGGGAGACGTACT	0.522000													7	24					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32472039	32472039	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32472039C>T	ENST00000341377.5	+	4	925	c.408C>T	c.(406-408)atC>atT	p.I136I	NRG1_ENST00000521670.1_Silent_p.I136I|NRG1_ENST00000338921.4_Silent_p.I136I|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Silent_p.I136I|NRG1_ENST00000356819.4_Silent_p.I136I|NRG1_ENST00000287842.3_Silent_p.I136I|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Silent_p.I136I|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Silent_p.I136I			Q02297	NRG1_HUMAN	neuregulin 1	136					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGAGATCATCACTGGTATGC	0.418000													29	70					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748139	41748139	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:41748139C>T	ENST00000226382.2	-	3	989	c.630G>A	c.(628-630)gcG>gcA	p.A210A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						cgccTCCATTCGCCCCGCAGC	0.756000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				29	56					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046429	69046429	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69046429G>A	ENST00000295381.3	+	9	1594	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R386K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R393K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R386K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R86K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R353K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R385K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	392					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CGAATTTCTAGGACAGACAGC	0.542000													29	131					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22095463	22095463	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:22095463G>A	ENST00000382374.4	-	6	583	c.518C>T	c.(517-519)cCc>cTc	p.P173L		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		TCCAGAATGGGGTTCTGCAGT	0.313000													21	31					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040369	107040369	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107040369C>T	ENST00000409886.3	-	20	4141	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1352K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1352	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTCATTTTCCTCACCACTG	0.368000													78	209					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734528	16734528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:16734528G>A	ENST00000433922.2	+	8	899	c.721G>A	c.(721-723)Gag>Aag	p.E241K	BZW2_ENST00000258761.3_Missense_Mutation_p.E241K|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Missense_Mutation_p.E47K|BZW2_ENST00000405202.1_Missense_Mutation_p.E165K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	241					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGGTCTTAAGGAGCTTTCCGA	0.483000													4	95					0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234975211	234975211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234975211G>A	ENST00000168148.3	+	5	567	c.479G>A	c.(478-480)tGg>tAg	p.W160*	SPP2_ENST00000373368.1_Nonsense_Mutation_p.W160*	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	160					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TCTCATAAATGGAGAAACAAT	0.308000													49	108					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039581	94039581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94039581G>A	ENST00000297268.6	+	20	1534	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	355					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGCTCCAAAGGAGAGAGCGG	0.433000										HNSCC(75;0.22)			14	71					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216611	10216611	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10216611C>T	ENST00000418404.3	-	29	4208	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1349K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1349K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1349					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1349K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATACTGTTCCCGCAGCAGG	0.592000													75	131					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166010	118166010	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:118166010C>T	ENST00000369448.3	+	2	767	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	174										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CGACTCCATTCGGCGTCAGTT	0.483000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			64	102					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607418	53607418	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53607418G>A	ENST00000425354.2	-	8	1367	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	RARG_ENST00000327550.3_Silent_p.L222L|RARG_ENST00000394426.1_Silent_p.L294L|RARG_ENST00000338561.5_Silent_p.L283L|RARG_ENST00000543726.1_Silent_p.L272L|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	294	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GTCCGGTTCAGGGTCAGCCCG	0.612000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	76					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43618134	43618134	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43618134C>T	ENST00000372165.4	+	2	303	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	RSPH9_ENST00000372163.4_Missense_Mutation_p.L84F	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	84					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGAGTGGAGCCTCTTGCCCCC	0.532000									Kartagener syndrome				18	58					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38802845	38802845	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38802845G>A	ENST00000449082.2	-	6	720	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	241					sensory perception	voltage-gated sodium channel complex		p.H241Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCACTGAGTGAATCAGGGCC	0.507000													16	41					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768264	123768264	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:123768264G>A	ENST00000223642.1	-	20	2524	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	832					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|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)	TCGTACAACAGAATATGGTAT	0.388000													41	84					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57515197	57515197	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:57515197C>T	ENST00000374900.4	+	11	1551	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	477						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAGGTGTCTTCAGTGCCCTGG	0.408000										HNSCC(52;0.14)			18	8					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166912	19166912	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:19166912G>A	ENST00000375371.3	-	6	1722	c.1701C>T	c.(1699-1701)atC>atT	p.I567I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	567					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.I567I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGCCACAGCGATGGTGGGTG	0.617000													34	86					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422168	31422168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31422168G>A	ENST00000389202.2	+	12	1374	c.1325G>A	c.(1324-1326)tGg>tAg	p.W442*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	442					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						TCCAGGCAATGGAGGAAGAAG	0.652000													31	58					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53311261	53311261	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53311261C>T	ENST00000457749.2	-	3	260	c.142_splice	c.e3+1	p.L47_splice	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000594602.1_Splice_Site_p.L47_splice|ZNF28_ENST00000339844.6_Splice_Site_p.L11_splice|ZNF28_ENST00000360272.4_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATCCTCACCCAGGGAGACCA	0.488000													14	206					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100173924	100173924	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100173924G>A	ENST00000310300.6	-	15	1627	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	LRCH4_ENST00000497245.1_Silent_p.V73V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	525					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGGTCTCAGGACAGAGTCTG	0.637000													18	89					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860698	13860698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13860698C>T	ENST00000285018.4	-	4	1097	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	265					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGGTCCGTGTCCATGGGCTTG	0.637000													62	134					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208978	53208978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53208978G>A	ENST00000543227.1	-	6	1604	c.1330C>T	c.(1330-1332)Cat>Tat	p.H444Y	ZNF611_ENST00000602162.1_Missense_Mutation_p.H375Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H444Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H375Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H444Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H375Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTCTATGATGGCATACAAGG	0.393000													10	262					0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262462	91262462	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91262462C>T	ENST00000418343.2	-	0	289																											GTTATCATCTCTCCTGTTTTG	0.433000													40	110					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64159341	64159341	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:64159341C>T	ENST00000395254.3	+	5	1297	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	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)					AGGCCCATTTCCACCCAAAGG	0.557000													95	140					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767340	73767340	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73767340C>T	ENST00000373115.4	+	3	988	c.551C>T	c.(550-552)tCg>tTg	p.S184L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	184					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCGCGGGCTCGGCCCTGGTG	0.642000													13	29					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39169943	39169943	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:39169943C>T	ENST00000301819.6	+	13	1845	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	TTC21A_ENST00000440121.1_Silent_p.F507F|TTC21A_ENST00000431162.2_Silent_p.F555F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	555							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCATGTGCTTCCACTGCTTAG	0.592000													41	81					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128151027	128151027	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:128151027G>A	ENST00000368250.1	-	4	564	c.66C>T	c.(64-66)atC>atT	p.I22I	THEMIS_ENST00000368248.2_Silent_p.I101I|THEMIS_ENST00000537166.1_Silent_p.I66I|THEMIS_ENST00000543064.1_Silent_p.I101I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	101	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGGTCCTTGTGATTTCTTCCA	0.368000													25	71					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791456	95791456	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95791456C>T	ENST00000260766.3	+	2	1287	c.653C>T	c.(652-654)cCa>cTa	p.P218L	PLCE1_ENST00000371380.2_Missense_Mutation_p.P218L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	218					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTGTGTACCACTACCTGGG	0.368000													21	57					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35766242	35766242	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35766242G>A	ENST00000400441.3	-	13	1619	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	MROH8_ENST00000217333.8_Silent_p.F369F|MROH8_ENST00000441008.2_Silent_p.F526F					maestro heat-like repeat family member 8																		GACACAGAAGGAAGCTGAGCA	0.428000													8	19					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44466906	44466906	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44466906C>T	ENST00000251269.5	+	3	356	c.28C>T	c.(28-30)Cat>Tat	p.H10Y	ZNF221_ENST00000592350.1_Missense_Mutation_p.H10Y|ZNF221_ENST00000587682.1_Missense_Mutation_p.H10Y	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TGAACTGCTTCATTCAGGACT	0.428000													32	58					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95093027	95093027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95093027C>T	ENST00000371501.4	-	43	4884	c.4762G>A	c.(4762-4764)Gaa>Aaa	p.E1588K	MYOF_ENST00000359263.4_Missense_Mutation_p.E1588K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1575K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1607K			Q9NZM1	MYOF_HUMAN	myoferlin	1588	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTCGGTCTTCAATGACTTTT	0.413000													38	83					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7667534	7667534	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7667534T>A	ENST00000572933.1	+	20	4739	c.3279T>A	c.(3277-3279)ccT>ccA	p.P1093P	DNAH2_ENST00000389173.2_Silent_p.P1093P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1093	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)				CTCAGATCCCTCCCATACACG	0.557000													58	95					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21693398	21693398	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21693398C>T	ENST00000261195.2	-	14	2009	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	585					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCTGTTCCTCTGGATAATCC	0.438000													70	225					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760952	62760952	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62760952G>A	ENST00000336232.2	-	10	1608	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	SLC22A8_ENST00000545207.1_Silent_p.F400F|SLC22A8_ENST00000430500.2_Silent_p.F491F|SLC22A8_ENST00000535878.1_Silent_p.F368F|SLC22A8_ENST00000311438.8_Silent_p.F491F	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	491					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCTCAGGCAGGAAGAGGGCAG	0.592000													50	128					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453061	138453061	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138453061G>A	ENST00000344876.4	-	1	568	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P61L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	61	Cadherin 1.				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)					AACAGTAGAAGGATTAGGAAG	0.413000													36	87					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345811	11345811	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11345811C>T	ENST00000376810.5	+	2	966	c.640C>T	c.(640-642)Cca>Tca	p.P214S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	214					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGCCATCTTCCCACTGGTCTA	0.602000													57	105					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33465810	33465810	+	Missense_Mutation	SNP	G	G	A	rs147925131		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33465810G>A	ENST00000379471.2	-	19	2537	c.2450C>T	c.(2449-2451)tCg>tTg	p.S817L	NOL6_ENST00000455041.2_Missense_Mutation_p.S765L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	817					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTCCCTCAGCGAGATCATCCC	0.592000													5	42					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82124590	82124590	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:82124590C>T	ENST00000199936.4	+	4	941	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	250					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGACTGGAGCTTTCCAAGTG	0.488000													24	31					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023377	18023377	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18023377C>T	ENST00000205890.5	+	2	1601	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	421	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCCGTCGCCCCACAACCCGT	0.667000													5	129					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56329569	56329569	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56329569G>A	ENST00000262290.4	+	8	1123	c.807G>A	c.(805-807)ggG>ggA	p.G269G	LPO_ENST00000421678.2_Silent_p.G186G|LPO_ENST00000543544.1_Silent_p.G210G|LPO_ENST00000582328.1_Silent_p.G186G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	269					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCAAGGCGGGGACTCAAGGGA	0.607000													5	122					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83259134	83259134	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:83259134C>T	ENST00000296591.5	-	10	1601	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	EDIL3_ENST00000380138.3_Missense_Mutation_p.G385R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	395	F5/8 type C 2.				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)		TCTTTAGCTCCTTGTGTAATG	0.393000													36	74					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446962	197446962	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197446962G>A	ENST00000367400.3	+	12	4309	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K	CRB1_ENST00000544212.1_Missense_Mutation_p.E873K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1280K|CRB1_ENST00000538660.1_Missense_Mutation_p.E856K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1368K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1392					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						CTCCCGAGTGGAAATGTGGAA	0.537000													44	87					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16911788	16911788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:16911788C>T	ENST00000377833.4	-	59	9366	c.9301G>A	c.(9301-9303)Ggt>Agt	p.G3101S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3101	CUB 23.				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)	GTATTGGCACCATCGTAAATT	0.468000													41	83					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069483	9069483	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9069483C>T	ENST00000397910.4	-	3	18166	c.17963G>A	c.(17962-17964)aGc>aAc	p.S5988N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5990	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						ACCTGAGAAGCTACTTGCACT	0.473000													73	125					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867846	207867846	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207867846C>T	ENST00000508064.2	+	5	672	c.612C>T	c.(610-612)tcC>tcT	p.S204S	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	204	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGCCCTCCATATACTGCA	0.488000													21	319					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1755406	1755406	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:1755406G>A	ENST00000381241.3	+	8	1062	c.863G>A	c.(862-864)gGa>gAa	p.G288E	ASMT_ENST00000381229.4_Missense_Mutation_p.G260E|ASMT_ENST00000381233.3_Missense_Mutation_p.G213E	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	260					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGGCAGACGGAAAGTGCTCA	0.552000													7	261					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25760663	25760663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25760663C>T	ENST00000399878.3	-	21	3105	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.E960K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E842K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	995						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTACCTTCCTCGATTAGCAGG	0.393000													47	94					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105355	65105355	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65105355G>A	ENST00000358691.5	-	29	4532	c.4366C>T	c.(4366-4368)Ccc>Tcc	p.P1456S	HELZ_ENST00000580168.1_Missense_Mutation_p.P1457S	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGCAGCATGGGAGGGGGCTGC	0.532000													32	109					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413089	50413089	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50413089C>T	ENST00000435965.1	-	21	2066	c.1893G>A	c.(1891-1893)agG>agA	p.R631R	CACNA2D2_ENST00000479441.1_Silent_p.R631R|CACNA2D2_ENST00000429770.1_Silent_p.R631R|CACNA2D2_ENST00000395083.1_Silent_p.R631R|CACNA2D2_ENST00000423994.2_Silent_p.R631R|CACNA2D2_ENST00000424201.2_Silent_p.R631R|CACNA2D2_ENST00000360963.3_Silent_p.R562R|CACNA2D2_ENST00000266039.3_Silent_p.R631R			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	631					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGTTAGTGCTCCTTATAGGCA	0.622000													53	88					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684741	26684741	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:26684741C>T	ENST00000272371.2	-	43	5482	c.5356G>A	c.(5356-5358)Gag>Aag	p.E1786K	OTOF_ENST00000339598.3_Missense_Mutation_p.E1019K|OTOF_ENST00000402415.3_Missense_Mutation_p.E1096K|OTOF_ENST00000338581.6_Missense_Mutation_p.E1019K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1786K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1786					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)					AAGTTGCCCTCGCCAGTGAGG	0.612000													41	143					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9491742	9491742	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9491742C>T	ENST00000434737.2	+	5	791	c.735C>T	c.(733-735)gtC>gtT	p.V245V	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Silent_p.V245V|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Intron			Q13360	ZN177_HUMAN	zinc finger protein 177	253					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CCCTTAGTGTCCACACAAAAA	0.448000													17	34					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043972	71043972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71043972G>A	ENST00000272367.2	-	4	617	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.Q181*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	181					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTGAGCCTCTGGATCTCAGCA	0.438000													34	71					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80651781	80651781	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80651781C>T	ENST00000458043.2	+	17	1867	c.1862_splice	c.e17+1	p.L621_splice	OTOGL_ENST00000547103.1_Splice_Site_p.L621_splice	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGATGATTTTCTGTAAGTATG	0.308000													15	35					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710349	117710349	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117710349C>T	ENST00000317775.6	-	10	2365	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.K560K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	560					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCCAGGTCCTTGAACCACT	0.597000													31	47					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32500875	32500875	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:32500875A>G	ENST00000379883.2	-	2	326	c.169T>C	c.(169-171)Ttt>Ctt	p.F57L	DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	57	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AACTTGAGAAAAAGTGTGGCA	0.448000													9	61					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912694	77912694	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:77912694C>T	ENST00000321110.1	-	2	1519	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	408							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTCCATCTCCCTCTGCAGAGG	0.522000													46	25					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425454	72425454	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72425454G>A	ENST00000333850.3	+	11	1593	c.1452G>A	c.(1450-1452)atG>atA	p.M484I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	484					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TAAACAAAATGAACCAATATC	0.403000													43	140					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466077	160466077	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160466077G>A	ENST00000368059.3	-	2	225	c.156C>T	c.(154-156)ttC>ttT	p.F52F	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Silent_p.F52F	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	52						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCCAAGTGATGAAGTTGACCT	0.463000													111	334					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80018797	80018797	+	Missense_Mutation	SNP	C	C	T	rs144913344	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80018797C>T	ENST00000354321.7	-	8	1368	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	DUS1L_ENST00000306796.5_Missense_Mutation_p.V295M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	295					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGGTCTTCACCTTGGCCAGC	0.692000													22	61					0	0	1	0	0
AP1AR	55435	broad.mit.edu	37	4	113189382	113189382	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:113189382G>A	ENST00000274000.5	+	10	1081	c.726G>A	c.(724-726)aaG>aaA	p.K242K	AP1AR_ENST00000309703.6_Silent_p.K209K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	242					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATAGCAACAAGAAGACTGGAA	0.408000													33	70					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95555040	95555040	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:95555040G>A	ENST00000325542.5	+	7	943	c.705G>A	c.(703-705)caG>caA	p.Q235Q	CEP57_ENST00000538658.1_Silent_p.Q235Q|CEP57_ENST00000325486.5_Silent_p.Q235Q|CEP57_ENST00000541150.1_Silent_p.Q226Q|CEP57_ENST00000537677.1_Silent_p.Q208Q	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	235	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTAGTTGCAGACTGGTCTAG	0.353000									Mosaic Variegated Aneuploidy Syndrome				9	18					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185105	24185105	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:24185105C>T	ENST00000396671.2	-	8	973	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	THRB_ENST00000356447.4_Missense_Mutation_p.G209R|THRB_ENST00000280696.5_Missense_Mutation_p.G224R|THRB_ENST00000416420.1_Missense_Mutation_p.G209R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	209					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCTTGTGCCCGATGGACTTC	0.582000													15	183					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969297	37969297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:37969297C>T	ENST00000327441.7	+	13	1682	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.Q406*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000536774.1_Nonsense_Mutation_p.Q225*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.Q406*	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	406										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATTACAACTTCAACATGCCAG	0.378000													33	87					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022225	73022225	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:73022225G>A	ENST00000263674.3	+	1	2892	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	848					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCTGGAGGGGAGCCCATCCG	0.642000													52	87					0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25755850	25755850	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:25755850G>A	ENST00000444995.3	-	4	910	c.210C>T	c.(208-210)atC>atT	p.I70I	LRP5L_ENST00000402785.2_Silent_p.I70I|LRP5L_ENST00000402859.2_Silent_p.I70I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	70										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CTGACACCAGGATCTTGTGGG	0.612000													58	132					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139879	3139879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3139879C>T	ENST00000252463.2	-	5	1478	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R125Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R382Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	464					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GAAGGGCCTCCGGTCGGAGTC	0.741000													5	11					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890291	55890291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55890291C>T	ENST00000313472.3	+	1	443	c.443C>T	c.(442-444)cCt>cTt	p.P148L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCACTGGGCCTTATGTGATT	0.448000													77	152					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255991	140255991	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140255991G>A	ENST00000398631.2	+	1	934	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTTGAAGAGAATAATGC	0.393000													48	115					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37172840	37172840	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37172840C>T	ENST00000310758.4	-	14	1734		c.e14-1		ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|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						TGACATGATTCTGTGAGTAAA	0.458000													17	31					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29135784	29135784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:29135784C>T	ENST00000409850.1	-	8	984	c.338G>A	c.(337-339)gGa>gAa	p.G113E	CPVL_ENST00000396276.3_Missense_Mutation_p.G113E|CPVL_ENST00000265394.5_Missense_Mutation_p.G113E|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	113					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGATGAACCTCCCGGCCCACC	0.463000													16	181					0	0	1	0	0
ZNF397	84307	broad.mit.edu	37	18	32825331	32825331	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:32825331A>G	ENST00000330501.7	+	4	815	c.662A>G	c.(661-663)aAt>aGt	p.N221S	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	221					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CATGAAAGCAATTTAGTGTGG	0.438000													8	26					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734746	65734746	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65734746C>T	ENST00000312397.5	+	10	1297	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	402					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTAAAAAGACCAAGCGGAGG	0.562000													11	213					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927901	143927901	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143927901G>A	ENST00000220940.1	+	4	362	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	91	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAGCCCCAGGAAAAATCTTC	0.388000													44	91					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843323	57843323	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57843323G>A	ENST00000309668.2	+	2	704	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	INHBC_ENST00000550133.1_Missense_Mutation_p.G193R	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	193					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTGCAGCCAGGGGCACCTGAC	0.617000													29	97					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27671975	27671975	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:27671975G>A	ENST00000265395.2	-	3	548	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	114					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CATTTGCTCCGGAATAAGCTT	0.343000													35	73					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830196	231830196	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:231830196C>T	ENST00000439617.2	+	2	745	c.692C>T	c.(691-693)cCa>cTa	p.P231L	DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.P231L|DISC1_ENST00000366633.3_Missense_Mutation_p.P231L|DISC1_ENST00000535983.1_Missense_Mutation_p.P231L|DISC1_ENST00000539444.1_Missense_Mutation_p.P231L|DISC1_ENST00000537876.1_Missense_Mutation_p.P231L|DISC1_ENST00000317586.4_Missense_Mutation_p.P231L|DISC1_ENST00000366636.4_Missense_Mutation_p.P231L|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	231	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTGCCCACCATCCAGAGAG	0.612000													24	84					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668418	59668418	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:59668418C>T	ENST00000521764.1	-	1	145	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	42					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGGGTGGAATCCTGTTCTTCA	0.522000													60	157					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582451	179582451	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179582451T>C	ENST00000589042.1	-	87	25374	c.25150A>G	c.(25150-25152)Aat>Gat	p.N8384D	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N8067D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N7140D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8067	Ig-like 66.						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)			TCTGAGCCATTGATGCGGCAT	0.413000													9	33					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944218	32944218	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32944218C>T	ENST00000395289.2	+	6	2403	c.802C>T	c.(802-804)Cct>Tct	p.P268S	BRD2_ENST00000449085.2_Missense_Mutation_p.P221S|BRD2_ENST00000374825.4_Missense_Mutation_p.P268S|BRD2_ENST00000374831.4_Missense_Mutation_p.P268S|BRD2_ENST00000443797.2_Missense_Mutation_p.P148S|BRD2_ENST00000395287.1_Missense_Mutation_p.P268S			P25440	BRD2_HUMAN	bromodomain containing 2	268					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TACTGCAGCTCCTCCAGCCCA	0.557000													29	97					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080164	8080164	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:8080164C>A	ENST00000379715.5	-	4	540	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	162	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ATGAAGACAACACTAGACAGA	0.373000													20	144					4.7796e-09	4.8049e-09	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34074037	34074037	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:34074037C>T	ENST00000254466.6	-	5	1110	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	GAS2L2_ENST00000587565.1_Silent_p.L345L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	361					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCCATACCTCAGGAATGGTG	0.602000													67	94					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293988	29293988	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29293988C>T	ENST00000331664.5	-	1	3139	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1047	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGGGAAGTTCGCCGCTTTGT	0.667000													38	67					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421783	153421783	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153421783G>A	ENST00000369951.4	+	5	819	c.759G>A	c.(757-759)caG>caA	p.Q253Q	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	253					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAAGCAGCAGAAAGAGTCTG	0.577000													82	33					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47237991	47237991	+	Missense_Mutation	SNP	G	G	A	rs35625808		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47237991G>A	ENST00000300404.2	+	7	993	c.934G>A	c.(934-936)Gac>Aac	p.D312N	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D252N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D226N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	312					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAAGCTATACGACCCTGGACC	0.542000													101	165					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451834	19451834	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19451834C>T	ENST00000396229.2	+	3	1223	c.474C>T	c.(472-474)tcC>tcT	p.S158S	TMC5_ENST00000541464.1_Silent_p.S158S|TMC5_ENST00000542583.2_Silent_p.S158S|TMC5_ENST00000381414.4_Silent_p.S158S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	158						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTTTGGCTCCTTAGAACCGG	0.488000													101	247					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022186	107022186	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:107022186A>T	ENST00000369701.3	+	26	3768	c.3541A>T	c.(3541-3543)Aca>Tca	p.T1181S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1181						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCCAAAATCACACTCAGTGA	0.507000													8	69					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9759778	9759778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9759778G>A	ENST00000383832.3	+	16	1187	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	CPNE9_ENST00000383831.3_Missense_Mutation_p.A333T	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	333	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTATGCCATGGCCCTCAAGGC	0.572000													37	83					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9356371	9356371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9356371G>A	ENST00000261336.2	-	2	288	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_002864.2	NP_002855.2			pregnancy-zone protein											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						CACAGTGAAGGAGACACAGTG	0.507000													5	94					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66909535	66909535	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:66909535C>T	ENST00000359742.4	-	7	828	c.588G>A	c.(586-588)acG>acA	p.T196T	GRIP1_ENST00000398016.3_Silent_p.T196T|GRIP1_ENST00000286445.7_Silent_p.T196T			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	196	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGGGTTTGATCGTGCCCTCTC	0.418000													55	89					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57535083	57535083	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57535083C>T	ENST00000371236.2	-	8	876	c.613G>A	c.(613-615)Gct>Act	p.A205T	DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.A205T|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.A205T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	205					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCGTGTCCAGCCTCAAACACA	0.403000													30	73					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50827261	50827261	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50827261G>A	ENST00000376959.2	-	2	1112	c.949C>T	c.(949-951)Cat>Tat	p.H317Y	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.H317Y|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	317					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TTGCTAATATGGATGAAGCCC	0.592000													28	67					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150908034	150908034	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:150908034G>A	ENST00000329903.4	+	3	237	c.203_splice	c.e3-1	p.R68_splice		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	68					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTCTAGGATAGTTCGCC	0.512000													25	5					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74628286	74628286	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74628286G>A	ENST00000398814.3	+	19	2591	c.2160G>A	c.(2158-2160)atG>atA	p.M720I	CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000558821.1_3'UTR	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	923							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCACTCCATGGACCTCAAGC	0.607000													45	127					0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37844132	37844132	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37844132G>A	ENST00000300658.4	-	1	228	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	PGAP3_ENST00000429199.2_Silent_p.L46L|PGAP3_ENST00000378011.4_Silent_p.L46L|PGAP3_ENST00000579146.1_Silent_p.L46L	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	46					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						AAGTGATTCAGAGCGCCCCCA	0.667000													3	13					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117365106	117365106	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117365106C>T	ENST00000160373.3	-	18	4352	c.4261_splice	c.e18+1	p.E1421_splice		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1421										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACCCACATACCTGCTCTGGGG	0.438000													6	239					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21370338	21370338	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21370338G>A	ENST00000413302.2	+	2	420	c.272G>A	c.(271-273)gGa>gAa	p.G91E	P2RX6_ENST00000336296.2_Missense_Mutation_p.G81E|P2RX6_ENST00000401443.1_Missense_Mutation_p.G65E|P2RX6_ENST00000443995.3_Missense_Mutation_p.G38E|P2RX6_ENST00000591411.1_3'UTR|P2RX6_ENST00000402329.3_Missense_Mutation_p.G55E			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	91					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AAGGAGCTTGGAAACCGGCTG	0.582000													5	11					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554468	11554468	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11554468C>T	ENST00000262442.3	+	13	2248	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S727F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	727	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCATGTTCTCCTCCAGGGAT	0.438000													44	104					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397893	8397893	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:8397893G>A	ENST00000471889.1	+	7	2000	c.1615G>A	c.(1615-1617)Ggg>Agg	p.G539R	SLC45A1_ENST00000377479.2_Missense_Mutation_p.G573R|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G539R			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	539					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATTCGAGGGGATGTTGCT	0.547000													48	115					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006741	8006741	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8006741G>A	ENST00000380149.1	-	14	2354	c.2324C>T	c.(2323-2325)aCc>aTc	p.T775I	ALOXE3_ENST00000448843.2_Missense_Mutation_p.T619I|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T751I			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	619					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGGGTGGTGGTCCCCTTGGT	0.572000													31	81					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9262586	9262586	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:9262586C>T	ENST00000318602.7	-	6	857	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	184					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGCCACCCTCTAACTGGAAA	0.453000													73	125					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75997022	75997022	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75997022G>A	ENST00000274364.6	+	34	4786	c.4489G>A	c.(4489-4491)Gat>Aat	p.D1497N	IQGAP2_ENST00000502745.1_Missense_Mutation_p.D993N|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D993N|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D999N	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1497					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGATATAGATGATCTTCAAAC	0.463000													56	97					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967787	4967787	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrY:4967787C>T	ENST00000333703.4	+	5	2648	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P723L|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P723L	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	723	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCCACTAATCCAGGCACAGTG	0.403000													38	20					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815498	109815498	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109815498C>T	ENST00000271332.3	+	31	8248	c.8187C>T	c.(8185-8187)gaC>gaT	p.D2729D	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2729					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TAGAAGACGACCAGAGTGGCT	0.587000													21	85					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116345877	116345877	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116345877C>T	ENST00000374140.2	+	21	2394	c.2185C>T	c.(2185-2187)Cct>Tct	p.P729S	RGS3_ENST00000462143.1_Missense_Mutation_p.P50S|RGS3_ENST00000343817.5_Missense_Mutation_p.P448S|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.P50S|RGS3_ENST00000350696.5_Missense_Mutation_p.P729S|RGS3_ENST00000394646.3_Intron	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	729	Pro-rich.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAAGGACTCCCCTTCTGGGCA	0.627000													44	81					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765735	110765735	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:110765735C>T	ENST00000395494.2	+	7	1490	c.927C>T	c.(925-927)ctC>ctT	p.L309L	ATP2A2_ENST00000539276.2_Silent_p.L336L|ATP2A2_ENST00000308664.6_Silent_p.L336L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	336					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TTCGAAGCCTCCCGTCTGTGG	0.493000													37	66					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140345	39140345	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39140345G>A	ENST00000377755.4	-	1	215	c.181C>T	c.(181-183)Cca>Tca	p.P61S	KRT40_ENST00000398486.2_Missense_Mutation_p.P61S			Q6A162	K1C40_HUMAN	keratin 40	61	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AAGTAGCATGGCAGGAGGCAA	0.552000													58	87					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203655	140203655	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140203655A>C	ENST00000529859.1	+	1	2295	c.2295A>C	c.(2293-2295)aaA>aaC	p.K765N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.K765N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.K765N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCACCCAAAACAGACCTCA	0.552000													24	57					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501865	172501865	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:172501865G>A	ENST00000367723.3	+	1	377	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTGGGAAAGAGAAAAACGAAT	0.507000													5	85					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76831522	76831522	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76831522G>A	ENST00000312010.6	-	4	639	c.315C>T	c.(313-315)ttC>ttT	p.F105F	USP36_ENST00000590546.2_Silent_p.F105F|USP36_ENST00000542802.2_Silent_p.F105F|USP36_ENST00000589424.1_Silent_p.F105F	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	105					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F105F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTCCGTGGGGAAAAGCACTT	0.582000													11	39					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65180398	65180398	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:65180398C>T	ENST00000381210.3	-	5	629	c.519G>A	c.(517-519)gaG>gaA	p.E173E	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.E173E	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	173					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTCTAGCACTCTCTTTTCCAT	0.413000													24	41					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492679	230492679	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:230492679C>T	ENST00000321327.2	-	4	809	c.810G>A	c.(808-810)caG>caA	p.Q270Q	PGBD5_ENST00000391860.1_Silent_p.Q125Q|PGBD5_ENST00000525115.1_Silent_p.Q171Q			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	171						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CGAAGCTGTTCTGCAGGGAGT	0.607000													35	113					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642052	210642052	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:210642052C>T	ENST00000439458.1	+	4	449	c.369C>T	c.(367-369)gcC>gcT	p.A123A	UNC80_ENST00000272845.5_Silent_p.A123A|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	123						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TTCTGGAGGCCCCCCAGGACT	0.542000													34	99					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720225	107720225	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107720225C>T	ENST00000388781.3	-	15	1791	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E570K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E570K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E570K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	570	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCAAACGTCTCCGAGCCCTAA	0.517000													24	39					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7627961	7627961	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7627961G>A	ENST00000256861.6	-	8	1089	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	ITIH5_ENST00000397146.2_Silent_p.S337S|ITIH5_ENST00000298441.6_Silent_p.S123S|ITIH5_ENST00000397145.2_Silent_p.S337S|ITIH5_ENST00000446830.2_Silent_p.S119S|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	337	VWFA.			S -> P (in Ref. 3; BAB55070).	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGATCCGGTTGGAAAATCCAA	0.473000													32	65					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113192631	113192631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113192631C>T	ENST00000401783.2	-	33	5789	c.5453G>A	c.(5452-5454)gGa>gAa	p.G1818E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1795E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1818	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAACTGGTATCCTTCCTGACA	0.403000													15	29					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209783237	209783237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209783237G>A	ENST00000009105.1	+	9	1035	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CAMK1G_ENST00000361322.2_Missense_Mutation_p.E264K|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	264	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGATCCGAACGAGCGGTACAC	0.498000													36	60					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79425953	79425953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79425953G>A	ENST00000307745.7	+	24	5563	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K																								ggaagaggaggaggaCAGCGG	0.662000													16	43					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207523	53207523	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53207523C>T	ENST00000293774.4	-	1	812	c.542G>A	c.(541-543)gGg>gAg	p.G181E	KRT4_ENST00000551956.1_Missense_Mutation_p.G107E|KRT4_ENST00000458244.2_Missense_Mutation_p.G87E			B4DRS2	B4DRS2_HUMAN	keratin 4	107						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGAATTCCCCCAGCGGGGCA	0.612000													13	154					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704272	68704272	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68704272G>A	ENST00000255078.3	+	13	2435	c.2324G>A	c.(2323-2325)gGg>gAg	p.G775E		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	775	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGGGGAAGGGAAGAGGAGG	0.652000													23	38					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001679	177001679	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177001679C>T	ENST00000367654.2	-	3	791	c.778G>A	c.(778-780)Gga>Aga	p.G260R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G260R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G260R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G260R			O14525	ASTN1_HUMAN	astrotactin 1	260					cell migration|neuron cell-cell adhesion	integral to membrane		p.G260*(1)		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						TCCTCCCCTCCGTTCATGCAC	0.607000													102	120					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128739	89128739	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89128739G>A	ENST00000286614.6	-	6	1361	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	360	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTCCTACCTTGAAAACAAACA	0.423000													24	53					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569315	11569315	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11569315C>T	ENST00000359227.3	-	4	869	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G149S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	149	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGATGCGGCCGTACTGGGAG	0.627000													52	109					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496193	113496193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113496193G>A	ENST00000257600.3	+	1	699	c.196G>A	c.(196-198)Gac>Aac	p.D66N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	66	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGCAGGTGGACGCCCAGCT	0.662000													6	194					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106204166	106204166	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106204166G>A	ENST00000390548.2	-	0	1132																											CACCACCGAGGAGAAGATCCA	0.667000													37	63					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907238	65907238	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65907238G>A	ENST00000321892.4	+	13	3677	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K	BPTF_ENST00000306378.6_Missense_Mutation_p.E1080K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1206K|BPTF_ENST00000424123.3_Missense_Mutation_p.E1067K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1206					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGCGACTCGAAAAAATCAA	0.338000													50	38					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994848	57994848	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57994848C>T	ENST00000354947.5	+	8	1084	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	PIP4K2C_ENST00000540759.2_Silent_p.I356I|PIP4K2C_ENST00000550465.1_Silent_p.I338I|PIP4K2C_ENST00000422156.3_Silent_p.I308I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	356	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562000													7	105					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458800	48458800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48458800C>T	ENST00000218056.5	+	5	1122	c.617C>T	c.(616-618)cCa>cTa	p.P206L		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	206						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GTGCCTGCCCCACCCACAGTG	0.642000													46	22					0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99007676	99007676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99007676C>T	ENST00000375263.3	-	8	604	c.557G>A	c.(556-558)gGg>gAg	p.G186E	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Missense_Mutation_p.G186E	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	186					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CAGGGCTATCCCAGAAGAAAT	0.458000													5	114					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346831	48346831	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48346831G>A	ENST00000319856.4	+	1	360	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CATTGTATGAGGGGAGAACCA	0.443000													86	348					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308556	248308556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248308556C>T	ENST00000366476.1	+	1	107	c.107C>T	c.(106-108)tCa>tTa	p.S36L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCATCTTTTCAGTGGCCTTC	0.517000													19	449					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052464	52052464	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52052464C>T	ENST00000340057.1	+	2	136	c.91C>T	c.(91-93)Cca>Tca	p.P31S		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	31					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCCACGAAATCCAGGATGCCC	0.493000													11	420					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037629	33037629	+	Silent	SNP	C	C	T	rs41555919	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33037629C>T	ENST00000419277.1	-	3	264	c.135G>A	c.(133-135)caG>caA	p.Q45Q	HLA-DPA1_ENST00000428995.1_Silent_p.Q45Q|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	45	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GTCTATGCGTCTGTACAAACG	0.433000													5	116					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688017	109688017	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:109688017C>T	ENST00000277225.5	+	3	2113	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	ZNF462_ENST00000457913.1_Silent_p.S608S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	608					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTAATTACTCCACCACAACTC	0.527000													17	233					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863576	72863576	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72863576G>A	ENST00000261180.4	+	4	1315	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTATGGAGAACTGGGG	0.368000													41	76					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091076	9091076	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9091076T>G	ENST00000397910.4	-	1	942	c.739A>C	c.(739-741)Aat>Cat	p.N247H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	247	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						CCTCTGGAATTTGGGGTCCCT	0.468000													5	97					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2840731	2840731	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2840731G>A	ENST00000380739.5	-	2	292	c.90C>T	c.(88-90)atC>atT	p.I30I	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	30					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TGAAGGGAGAGATGAAGATGT	0.512000													59	69					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29225433	29225433	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29225433A>T	ENST00000379558.4	+	5	810	c.459A>T	c.(457-459)ggA>ggT	p.G153G	FAM179A_ENST00000403861.2_Silent_p.G153G	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	153							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCCCCAAGGAGTTCCCCTGC	0.617000													19	33					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605805	101605805	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101605805G>A	ENST00000284395.5	+	33	5554	c.5154G>A	c.(5152-5154)ctG>ctA	p.L1718L	LRRK1_ENST00000388948.3_Silent_p.L1721L|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1721					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCCTCCCTGGAGATCTGCA	0.632000													7	125					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41577430	41577430	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:41577430C>T	ENST00000262415.3	+	11	1577	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	DHX8_ENST00000540306.1_Missense_Mutation_p.P502L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	502						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GATTCTATTCCCATGGGACTC	0.527000													114	154					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368841	100368841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:100368841C>T	ENST00000281806.2	-	6	1312	c.998G>A	c.(997-999)gGa>gAa	p.G333E	MCHR2_ENST00000369212.1_Missense_Mutation_p.G333E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G333E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTGTTTCCCATATTGTT	0.408000													38	106					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49937290	49937290	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49937290C>T	ENST00000398718.1	-	1	48	c.49G>A	c.(49-51)Ggt>Agt	p.G17S		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	17					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CCTGATGGACCACAAGACACA	0.303000													23	96					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139316468	139316468	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:139316468G>A	ENST00000406875.3	-	3	1201	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	HIPK2_ENST00000428878.2_Silent_p.A369A|HIPK2_ENST00000342645.6_Silent_p.A369A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	369	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGATCTCAGGGGCCCTGAAAA	0.443000													8	41					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42703691	42703691	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42703691C>T	ENST00000337343.4	+	3	328	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	DGKH_ENST00000540693.1_Silent_p.L103L|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Silent_p.L103L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	103	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTAACAGTCTCTGATATTTGA	0.338000													9	24					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237099	22237099	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22237099C>T	ENST00000390428.3	+	0	183																											AAAACGGCCACCCTGACCTGC	0.473000													15	32					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330030	138330030	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:138330030C>T	ENST00000409968.1	+	17	3505	c.3327C>T	c.(3325-3327)aaC>aaT	p.N1109N	THSD7B_ENST00000272643.3_Silent_p.N1112N|THSD7B_ENST00000413152.2_Silent_p.N1081N|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		ACCTGTGCAACCAGGATGAAA	0.458000													24	29					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899343	133899343	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133899343G>A	ENST00000220616.4	+	9	1766	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	TG_ENST00000377869.1_Missense_Mutation_p.E576K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	576					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCTTCCAGAATTCCTTCT	0.448000													56	86					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134962	32134962	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:32134962T>G	ENST00000312561.4	+	4	1487	c.1073T>G	c.(1072-1074)gTg>gGg	p.V358G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AGATCTTCTGTGGATGGTGTT	0.358000													31	109					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254567	3254567	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3254567C>T	ENST00000304646.2	+	1	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTTCATGTTCGTGGACATGG	0.502000													67	166					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21871193	21871193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21871193G>A	ENST00000399982.2	-	17	3761	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.P954S|CHD8_ENST00000557364.1_Missense_Mutation_p.P1233S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1233	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCATTTTGTGGATTCCAGTCT	0.413000													25	56					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71665563	71665563	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71665563C>T	ENST00000356340.3	+	16	1472	c.936C>T	c.(934-936)ggC>ggT	p.G312G	COL13A1_ENST00000354547.3_Silent_p.G290G|COL13A1_ENST00000398972.3_Silent_p.G312G|COL13A1_ENST00000522165.1_Silent_p.G293G|COL13A1_ENST00000398968.3_Silent_p.G293G|COL13A1_ENST00000398964.3_Silent_p.G283G|COL13A1_ENST00000398969.3_Silent_p.G255G|COL13A1_ENST00000398974.3_Silent_p.G300G|COL13A1_ENST00000520267.1_Silent_p.G255G|COL13A1_ENST00000398966.3_Silent_p.G290G|COL13A1_ENST00000398978.3_Silent_p.G312G|COL13A1_ENST00000398973.3_Silent_p.G312G|COL13A1_ENST00000517713.1_Silent_p.G290G|COL13A1_ENST00000398971.3_Silent_p.G312G|COL13A1_ENST00000357811.3_Silent_p.G290G|COL13A1_ENST00000520133.1_Silent_p.G261G			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	312	Triple-helical region 2 (COL2).				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)	GGATCCAGGGCTACCACGGCC	0.547000													13	33					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20710983	20710983	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20710983G>A	ENST00000315409.2	+	1	86	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TAAGACCCATGAACAGGTCAG	0.403000													5	74					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308957	176308957	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176308957G>A	ENST00000292432.5	-	16	2316	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	742	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|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)			CTGCTTGCCGGGGTTGATGGA	0.637000													8	152					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479737	86479737	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86479737T>C	ENST00000394720.2	+	4	1547	c.1370T>C	c.(1369-1371)cTt>cCt	p.L457P	GRM3_ENST00000546348.1_Silent_p.L407L|GRM3_ENST00000536043.1_Silent_p.L687L|GRM3_ENST00000361669.2_Silent_p.L815L|GRM3_ENST00000439827.1_Missense_Mutation_p.L459P			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTTTGTGGTCTTGGGCTGTTT	0.493000													32	95					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882552	68882552	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:68882552C>T	ENST00000303786.3	+	3	1446	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	PROKR1_ENST00000394342.2_Silent_p.F342F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	342						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCTGTGCTTCGTGACCGTCA	0.507000													24	62					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799734	159799734	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159799734C>T	ENST00000289707.5	+	2	268	c.119C>T	c.(118-120)cCc>cTc	p.P40L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	40						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GCAGCGCGTCCCCCTGGCTTC	0.592000													13	390					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231717	230231717	+	Silent	SNP	G	G	A	rs141125901		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:230231717G>A	ENST00000341772.4	-	12	2108	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	658					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAATCCCCACGATCAGGATGA	0.562000													21	40					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731246	140731246	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140731246C>T	ENST00000523390.1	+	1	1419	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCGCCTCCGACCCGGATT	0.582000													21	50					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5050425	5050425	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5050425T>A	ENST00000574788.1	+	29	4597	c.2367T>A	c.(2365-2367)ttT>ttA	p.F789L	USP6_ENST00000250066.6_Missense_Mutation_p.F789L|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.F472L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	789					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAGCGGATTTTTGTGTGCAT	0.403000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								56	118					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182605	140182605	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140182605C>T	ENST00000522353.2	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.S608L|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.677000													47	140					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146673594	146673594	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:146673594G>A	ENST00000392299.2	+	5	1865	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	GRM1_ENST00000361719.2_Silent_p.E465E|GRM1_ENST00000492807.2_Silent_p.E465E|GRM1_ENST00000282753.1_Silent_p.E465E|GRM1_ENST00000507907.1_Silent_p.E465E|GRM1_ENST00000355289.4_Silent_p.E465E			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	465					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TATCTGGAGAGGAGGTGTGGT	0.522000													185	98					0	0	1	0	0
GADD45A	1647	broad.mit.edu	37	1	68151213	68151213	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:68151213G>A	ENST00000370986.4	+	1	470	c.36G>A	c.(34-36)aaG>aaA	p.K12K	GADD45A_ENST00000460575.1_3'UTR|GADD45A_ENST00000370985.3_Silent_p.K12K	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	12					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						GAGAGCAGAAGACCGAAAGGT	0.647000													4	16					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20929460	20929460	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20929460G>A	ENST00000250489.4	-	1	311	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	TMEM55B_ENST00000398020.4_Missense_Mutation_p.P9S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	9						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GACAGCAGCGGGGAACGCTCT	0.761000													8	13					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6637104	6637104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6637104G>A	ENST00000333172.6	+	5	1761	c.1568G>A	c.(1567-1569)gGg>gAg	p.G523E	TAS1R1_ENST00000351136.3_Missense_Mutation_p.G269E|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	523					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCCCTGTGGGGCTGGGACC	0.607000													21	56					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94267901	94267901	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:94267901G>A	ENST00000265986.6	-	8	1178	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	374					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACATTAATGATAAAAAACA	0.343000													59	159					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315637	40315637	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40315637C>T	ENST00000264661.3	-	13	2796	c.2464G>A	c.(2464-2466)Gac>Aac	p.D822N	KCNH4_ENST00000607371.1_Missense_Mutation_p.D822N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	822					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGACTGAGGTCCGGAGGTCCA	0.632000													10	24					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526298	13526298	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13526298C>T	ENST00000318426.2	-	3	474	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	C12orf36_ENST00000527705.2_Missense_Mutation_p.R86Q					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		GGGAGGAGCTCGTGCAATCCA	0.458000													58	113					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908692	139908692	+	Missense_Mutation	SNP	C	C	T	rs146411620		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:139908692C>T	ENST00000297183.6	+	29	6285	c.6161C>T	c.(6160-6162)tCt>tTt	p.S2054F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2054F|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S437F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2054F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGTAGCTCTGCCAGCAAC	0.537000													46	101					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427583	25427583	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25427583C>T	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.522000													103	306					0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37887836	37887836	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37887836G>A	ENST00000377716.2	-	3	1455	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SLC25A51_ENST00000242275.6_Missense_Mutation_p.R238C|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R238C			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	238					transport	integral to membrane|mitochondrial inner membrane											GACTGTATGCGAGTTTTTACA	0.408000													28	71					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91298084	91298084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:91298084C>T	ENST00000355112.3	+	5	1121	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	BLM_ENST00000560509.1_Missense_Mutation_p.L335F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	335					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|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	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|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)			AGAGGATGTTCTTAGCACATC	0.368000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				16	45					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443912	5443912	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5443912C>T	ENST00000300778.4	+	1	572	c.482C>T	c.(481-483)tCc>tTc	p.S161F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCTTCCCTCCCTTTTCTTA	0.522000													112	74					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646221	15646221	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:15646221C>T	ENST00000378076.3	-	20	2457	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	702					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTGTTGCGTTCGATTCCAACA	0.383000													46	94					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848717	49848717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49848717C>T	ENST00000333486.3	-	9	1269	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	371	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557).	ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCAGCACTTCCTGGGCAGCT	0.607000													24	64					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27114398	27114398	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:27114398G>A	ENST00000335625.5	+	3	891	c.3G>A	c.(1-3)atG>atA	p.M1I	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Start_Codon_SNP_p.M1I|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Start_Codon_SNP_p.M1I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	1					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTGGGAATGGACAATGGAA	0.398000													23	76					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131514	66131514	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66131514C>T	ENST00000590019.1	-	0	298																											TTCACCTGGCCCCGGATCTTG	0.637000													20	39					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542447	173542447	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:173542447G>A	ENST00000367714.3	-	9	1342	c.920C>T	c.(919-921)tCa>tTa	p.S307L	SLC9C2_ENST00000536496.1_Missense_Mutation_p.S205L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	307					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATATACAGATGAAAAAATTCT	0.264000													23	52					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44671903	44671903	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:44671903C>T	ENST00000299957.6	+	7	1117	c.818C>T	c.(817-819)cCt>cTt	p.P273L	CASC4_ENST00000345795.2_Missense_Mutation_p.P273L|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	273						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AGGAAGCCTCCTATTTCAGTT	0.348000													50	154					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030161	40030161	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40030161G>A	ENST00000372857.3	-	10	2179	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PABPC4_ENST00000372862.3_Missense_Mutation_p.R463C|PABPC4_ENST00000372858.3_Missense_Mutation_p.R463C|PABPC4_ENST00000372856.3_Missense_Mutation_p.R463C	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	463					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGATGGCGAAGAGTTGGA	0.542000													56	96					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642049	207642049	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207642049C>T	ENST00000367057.3	+	3	812	c.623C>T	c.(622-624)cCc>cTc	p.P208L	CR2_ENST00000367058.3_Missense_Mutation_p.P208L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.P208L|CR2_ENST00000367059.3_Missense_Mutation_p.P208L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	208	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCTGTCCCCCCCACATGTGAA	0.403000													110	147					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707266	41707266	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41707266C>T	ENST00000310054.4	+	6	1181	c.965C>T	c.(964-966)cCt>cTt	p.P322L	CYP2S1_ENST00000542619.1_Missense_Mutation_p.P47L	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	322					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						ATGAAATACCCTCATGTCCAA	0.507000													50	149					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139305155	139305155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:139305155G>A	ENST00000406875.3	-	7	1868	c.1774C>T	c.(1774-1776)Cac>Tac	p.H592Y	HIPK2_ENST00000428878.2_Missense_Mutation_p.H592Y|HIPK2_ENST00000342645.6_Missense_Mutation_p.H592Y	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	592	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ACCTGGTTGTGGACAGTGGTC	0.537000													54	98					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52610002	52610002	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:52610002G>A	ENST00000591504.1	-	3	295	c.21C>T	c.(19-21)acC>acT	p.T7T	CCDC68_ENST00000337363.4_Silent_p.T7T|CCDC68_ENST00000432185.1_Silent_p.T7T	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	7										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)		GAATTTCTGTGGTCACTGTCA	0.368000													6	113					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517147	123517147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123517147C>T	ENST00000223026.4	+	5	2022	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	HYAL4_ENST00000476325.1_Missense_Mutation_p.P462S	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	462					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCCCCTTCTCCTGGTTCACT	0.433000													66	160					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16295914	16295914	+	Missense_Mutation	SNP	G	G	A	rs74315156		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:16295914G>A	ENST00000205557.7	-	9	1149	c.1120C>T	c.(1120-1122)Ctc>Ttc	p.L374F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	374	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCACCTTGAGCCTGTACATG	0.592000													63	101					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52235472	52235472	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:52235472G>A	ENST00000282588.6	+	25	3589	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1044					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATCAACTCTGGAAAGAAAATG	0.348000													19	41					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252341	145252341	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:145252341A>T	ENST00000377976.1	-	1	190	c.191T>A	c.(190-192)gTt>gAt	p.V64D		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	64										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AGACCCATAAACACCATCCAT	0.498000													30	75					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83926232	83926232	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:83926232C>T	ENST00000369705.3	-	13	1649	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	ME1_ENST00000543031.1_Silent_p.L436L|ME1_ENST00000541327.1_Silent_p.L345L	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	511					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTGCAATTTTCAGAGAAACAT	0.328000													47	123					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21608168	21608168	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:21608168G>A	ENST00000524240.1	-	4	1376	c.726C>T	c.(724-726)tcC>tcT	p.S242S	GFRA2_ENST00000518077.1_Silent_p.S109S|GFRA2_ENST00000400782.4_Silent_p.S137S|GFRA2_ENST00000517328.1_Silent_p.S242S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	242						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGTCCTCATAGGAGCAGCTGG	0.672000													20	26					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055127	49055127	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49055127G>A	ENST00000440857.1	-	4	838	c.136C>T	c.(136-138)Cta>Tta	p.L46L	DALRD3_ENST00000341949.4_Silent_p.L213L|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000441576.2_Silent_p.L213L|DALRD3_ENST00000395462.4_Silent_p.L46L|DALRD3_ENST00000313778.5_Silent_p.L46L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	213					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCTGCCTAGGATGCCAGGG	0.602000													7	138					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67684703	67684703	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:67684703G>A	ENST00000255674.6	-	46	6647	c.6361C>T	c.(6361-6363)Ctt>Ttt	p.L2121F	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2121							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)				AAGATAAGAAGAGGCAATAAA	0.383000													43	80					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386749	13386749	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:13386749G>A	ENST00000360228.5	-	24	3903	c.3904C>T	c.(3904-3906)Ctg>Ttg	p.L1302L	CACNA1A_ENST00000573710.2_Silent_p.L1303L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1303					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)	CCCTGATGCAGGACGAGCCCC	0.587000													15	34					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632848	143632848	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143632848G>A	ENST00000408955.2	+	1	590	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CAAGTTTATTGATCACATATC	0.498000													38	132					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4125879	4125879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:4125879C>T	ENST00000381971.3	-	3	1044	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	GLIS3_ENST00000324333.10_5'UTR	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTGCTGGTGACCACTAGATTG	0.498000													38	42					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285527	238285527	+	Silent	SNP	G	G	A	rs145203676		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238285527G>A	ENST00000295550.4	-	7	3410	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	COL6A3_ENST00000472056.1_Silent_p.I379I|COL6A3_ENST00000392004.3_Silent_p.I780I|COL6A3_ENST00000353578.4_Silent_p.I780I|COL6A3_ENST00000346358.4_Silent_p.I786I|COL6A3_ENST00000347401.3_Silent_p.I785I|COL6A3_ENST00000392003.2_Silent_p.I579I|COL6A3_ENST00000409809.1_Silent_p.I780I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	986	Nonhelical region.|VWFA 5.				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)		GAGACAGCACGATCTGCTCTA	0.512000													101	194					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480374	73480374	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:73480374C>T	ENST00000523207.1	+	2	993	c.405C>T	c.(403-405)tcC>tcT	p.S135S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	135					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGGAGTCCTGCTGCCAGG	0.458000													10	132					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20508005	20508005	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:20508005T>A	ENST00000377252.3	+	12	2127	c.1286T>A	c.(1285-1287)aTa>aAa	p.I429K	PLXDC2_ENST00000377242.3_Missense_Mutation_p.I380K|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	429						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GATACCAAGATAGCACTACAT	0.279000													15	35					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373854	138373854	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:138373854A>G	ENST00000409968.1	+	18	3711	c.3533A>G	c.(3532-3534)gAa>gGa	p.E1178G	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181G|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		CTCCTGAATGAAAATTGCTTC	0.458000													52	139					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80641768	80641768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:80641768C>T	ENST00000307624.3	-	7	737	c.709G>A	c.(709-711)Gga>Aga	p.G237R		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	237	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGATGGTCCCCGGAACTTA	0.468000													27	54					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596717	11596717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11596717C>T	ENST00000294484.6	+	21	4291	c.4153C>T	c.(4153-4155)Ccc>Tcc	p.P1385S	PTCHD2_ENST00000304391.6_3'UTR|PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1385S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1385					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATAAGATTCCCCTGCCCGC	0.672000													5	11					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104888	183104888	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:183104888G>A	ENST00000435564.1	-	3	547	c.347C>T	c.(346-348)cCa>cTa	p.P116L	PDE1A_ENST00000346717.4_Missense_Mutation_p.P82L|PDE1A_ENST00000331935.6_Missense_Mutation_p.P116L|PDE1A_ENST00000410103.1_Missense_Mutation_p.P116L|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.P100L|PDE1A_ENST00000358139.2_Missense_Mutation_p.P116L|PDE1A_ENST00000409365.1_Missense_Mutation_p.P100L|PDE1A_ENST00000456212.1_Missense_Mutation_p.P116L|PDE1A_ENST00000536095.1_Missense_Mutation_p.P12L	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	116					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCGAAATTTTGGTTTTTCCTC	0.423000													44	91					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59828495	59828495	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:59828495C>T	ENST00000357637.5	-	4	507	c.92G>A	c.(91-93)gGa>gAa	p.G31E	PIGN_ENST00000400334.3_Missense_Mutation_p.G31E	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	31					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGGAGTCATTCCATGAACCAA	0.408000													17	43					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361415	107361415	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107361415G>A	ENST00000374779.2	-	1	373	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGCCAGAAAGGGAAATGGTC	0.522000													26	99					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007245	56007245	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:56007245A>T	ENST00000429591.2	+	4	877	c.839A>T	c.(838-840)aAa>aTa	p.K280I	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATGTGGAAAAAGATTCAGC	0.463000													21	64					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429559	110429559	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:110429559G>A	ENST00000360185.4	-	2	223	c.59C>T	c.(58-60)tCc>tTc	p.S20F	GIT2_ENST00000356259.4_Missense_Mutation_p.S20F|GIT2_ENST00000361006.5_Missense_Mutation_p.S20F|GIT2_ENST00000343646.5_Missense_Mutation_p.S20F|GIT2_ENST00000354574.4_Missense_Mutation_p.S20F|GIT2_ENST00000547815.1_Missense_Mutation_p.S20F|GIT2_ENST00000551209.1_Missense_Mutation_p.S20F|GIT2_ENST00000355312.3_Missense_Mutation_p.S20F|GIT2_ENST00000338373.5_Missense_Mutation_p.S20F|GIT2_ENST00000320063.9_Missense_Mutation_p.S20F|GIT2_ENST00000457474.2_Missense_Mutation_p.S20F|GIT2_ENST00000553118.1_Missense_Mutation_p.S20F			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	20	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGATGCCCAGGAAGGATCTGG	0.478000													21	72					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16462214	16462214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16462214G>A	ENST00000358432.5	-	6	1518	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	455	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATGCTCCAGGAGACGCTAAG	0.657000													33	96					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534183	90534183	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90534183C>T	ENST00000602681.1	+	0	929																											CATCTTGTCTCCCAGCGTCAT	0.617000													29	99					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672537	43672537	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43672537C>T	ENST00000372492.4	+	10	2013	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	WDR65_ENST00000528956.1_Silent_p.S563S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	563										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTACTGTCTCCCCCGATGCCA	0.522000													38	117					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620216	7620216	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:7620216C>T	ENST00000486284.1	+	8	1897	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	GRM7_ENST00000389336.4_Silent_p.C541C|GRM7_ENST00000402647.2_Silent_p.C541C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.C541C|GRM7_ENST00000357716.4_Silent_p.C541C	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	541					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAACTCCTTGCTGTTGGACCT	0.512000													44	103					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:29654691C>T	ENST00000358273.4	+	38	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(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)		CTTCATGCACCAGGAGTGTGA	0.493000			"""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)			32	96					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086637	9086637	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9086637C>T	ENST00000397910.4	-	1	5381	c.5178G>A	c.(5176-5178)caG>caA	p.Q1726Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1726	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTATTTCCCTGTGTGTTCA	0.488000													49	102					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149772311	149772311	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149772311C>T	ENST00000451292.1	+	23	3777	c.3669C>T	c.(3667-3669)acC>acT	p.T1223T	TCOF1_ENST00000445265.2_Silent_p.T1110T|TCOF1_ENST00000504761.2_Silent_p.T1186T|TCOF1_ENST00000323668.7_Silent_p.T1109T|TCOF1_ENST00000439160.2_Silent_p.T1149T|TCOF1_ENST00000377797.3_Silent_p.T1187T|TCOF1_ENST00000513346.1_Silent_p.T1186T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1186					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGGAGACCGCAGCAGAGT	0.647000													4	41					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000													35	68					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254834	3254834	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3254834G>A	ENST00000304646.2	+	1	588	c.588G>A	c.(586-588)gaG>gaA	p.E196E	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACCTCAATGAGGTCATAATCC	0.498000													9	151					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641058	140641058	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:140641058G>A	ENST00000509479.2	-	5	3692	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	942	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGCCTTGGAGGGGCTTGGGGC	0.572000													7	162					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3557592	3557592	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3557592G>A	ENST00000262919.5	+	14	2369	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	ATRN_ENST00000446916.2_Silent_p.L767L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	767	PSI 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGTGCCCTGGACCAGAACT	0.537000													50	123					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878378	165878378	+	Silent	SNP	C	C	T	rs145488590	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:165878378C>T	ENST00000513876.2	+	1	279	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	68																	CGACCACATTCGTCCAACAGC	0.592000													14	23					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163055337	163055337	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163055337C>T	ENST00000188790.4	-	16	1539	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	FAP_ENST00000443424.1_Silent_p.R419R	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	444					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						ACCTTTCTTTCCTTAGATGGC	0.408000													26	59					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24667044	24667044	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:24667044T>C	ENST00000378198.4	-	1	217	c.47A>G	c.(46-48)gAa>gGa	p.E16G	TDP2_ENST00000545995.1_Missense_Mutation_p.E46G			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	16					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCGCCCTCTTCCTCCGCCGC	0.657000								Direct reversal of damage					140	487					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535324	39535324	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39535324C>T	ENST00000394001.1	-	6	1137	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	369	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CACAGCGGATCTCTGCCAGCT	0.622000													80	123					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196709855	196709855	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196709855C>T	ENST00000312428.6	-	47	8916	c.8816G>A	c.(8815-8817)gGa>gAa	p.G2939E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2939					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G2939E(1)		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						GATATCTCTTCCTTTGCACAA	0.393000													19	34					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18541071	18541071	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:18541071G>A	ENST00000536719.1	-	2	256	c.122C>T	c.(121-123)tCa>tTa	p.S41L	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.S41L			Q99816	TS101_HUMAN	tumor susceptibility 101	41	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTCACCATATGAATCCAAAAC	0.303000													52	70					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370852	87370852	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87370852C>T	ENST00000338056.3	+	7	1048	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P196S|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P196S	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	213										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGCAGTTTTCCTGCTGTAAT	0.274000													22	51					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10997633	10997633	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10997633C>T	ENST00000324288.8	+	9	951	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.T224I	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	273					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTGGATTCACTGTCCACGGC	0.602000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								60	95					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941798	12941798	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12941798G>A	ENST00000235349.5	-	3	822	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	251										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTCTGGGGAAACGTAGCG	0.488000													106	260					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84375275	84375275	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:84375275G>A	ENST00000428679.2	-	3	749	c.156C>T	c.(154-156)acC>acT	p.T52T	SNAP91_ENST00000521743.1_Silent_p.T52T|SNAP91_ENST00000520302.1_Silent_p.T52T|SNAP91_ENST00000521485.1_Silent_p.T52T|SNAP91_ENST00000437520.1_Silent_p.T52T|SNAP91_ENST00000520213.1_Silent_p.T52T|SNAP91_ENST00000369694.2_Silent_p.T52T|SNAP91_ENST00000439399.2_Silent_p.T52T|SNAP91_ENST00000195649.6_Silent_p.T52T			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	52	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATTAACATTGGTCTCGTTGG	0.363000													59	37					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234548	26234548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26234548G>A	ENST00000244534.5	-	1	668	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	205					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGGCTTCCCCGACTTAGGCTT	0.502000													46	177					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361733	9361733	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9361733C>T	ENST00000456448.1	+	1	128	c.14C>T	c.(13-15)cCa>cTa	p.P5L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCTATTTTCCAATTCTCTTT	0.393000													8	12					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843379	38843379	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38843379C>T	ENST00000359357.3	+	51	7236	c.6982C>T	c.(6982-6984)Ctg>Ttg	p.L2328L	DNAH8_ENST00000441566.1_Silent_p.L2292L|DNAH8_ENST00000449981.2_Silent_p.L2545L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTCAATCTTCTGGAAGGGTT	0.303000													21	63					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635228	42635228	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42635228C>T	ENST00000358131.5	+	3	442	c.234C>T	c.(232-234)atC>atT	p.I78I	TOX2_ENST00000341197.3_Silent_p.I69I|TOX2_ENST00000423191.1_Silent_p.I27I|TOX2_ENST00000372999.1_Silent_p.I27I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	78	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACTATGAGATCCCCCCGATAA	0.582000													42	81					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36435836	36435836	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36435836C>G	ENST00000588831.1	+	4	2856	c.1802C>G	c.(1801-1803)cCg>cGg	p.P601R	LRFN3_ENST00000246529.3_Missense_Mutation_p.P601R			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	601					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ccgcccgccccggagcccgcg	0.771000													6	13					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46621317	46621317	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46621317G>A	ENST00000296145.5	+	4	1045	c.312G>A	c.(310-312)cgG>cgA	p.R104R	TDGF1_ENST00000542931.1_Silent_p.R88R|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	104	EGF-like.				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTACGGACGGAACTGTGAGC	0.547000													70	138					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615844	179615844	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179615844C>T	ENST00000360870.5	-	46	11505	c.11283G>A	c.(11281-11283)aaG>aaA	p.K3761K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9603							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K3761K(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)			AATGATCTACCTTATAACTTT	0.363000													4	134					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63489451	63489451	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:63489451G>A	ENST00000536984.2	+	5	1454	c.760G>A	c.(760-762)Gat>Aat	p.D254N	CDH7_ENST00000397968.2_Missense_Mutation_p.D254N|CDH7_ENST00000323011.3_Missense_Mutation_p.D254N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	254	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACCCTAACTGATGTCAACGA	0.398000													42	51					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109522763	109522763	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:109522763C>T	ENST00000409271.1	-	11	1564		c.e11+1		EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTCAGCTTACCTTCCACGAC	0.542000													33	67					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39144255	39144255	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:39144255C>T	ENST00000297668.6	-	11	1811	c.1738G>A	c.(1738-1740)Ggc>Agc	p.G580S	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G580S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G492S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G580S|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	580	EGF-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGGTCTCGCCCGTATAGCCT	0.493000													4	14					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628275	29628275	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29628275G>A	ENST00000278882.3	+	6	657	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	FRG1B_ENST00000439954.2_Missense_Mutation_p.E98K|FRG1B_ENST00000358464.4_Missense_Mutation_p.E93K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGATGCAATGAAGCAGGGGA	0.373000													9	153					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711084	11711084	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11711084G>A	ENST00000262442.3	+	44	8524	c.8456G>A	c.(8455-8457)gGa>gAa	p.G2819E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2819E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2819	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCGCGGGGAAATGCTCTG	0.522000													34	73					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63958191	63958191	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:63958191G>A	ENST00000443617.2	-	42	8569	c.8482C>T	c.(8482-8484)Ccc>Tcc	p.P2828S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2828					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAATAACAGGGATCATTTGAC	0.517000													63	132					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140968494	140968494	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140968494C>T	ENST00000277549.5	+	34	4984	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	CACNA1B_ENST00000277551.2_Silent_p.F1611F|CACNA1B_ENST00000371355.4_Silent_p.F1612F|CACNA1B_ENST00000371357.1_Silent_p.F1610F|CACNA1B_ENST00000371363.1_Silent_p.F1609F|CACNA1B_ENST00000371372.1_Silent_p.F1611F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1611					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGCTGTTCTTCATCTACGCCA	0.642000													63	152					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483154	59483154	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:59483154G>A	ENST00000312828.3	-	2	1642	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	181					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)				TGCCGAGGAGGAAGACCAAGA	0.582000													43	104					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997314	115997314	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:115997314C>T	ENST00000264363.2	-	2	1557	c.879G>A	c.(877-879)ggG>ggA	p.G293G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	293	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCAGCCTCTTCCCTGACAAGA	0.433000													61	103					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32024638	32024638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32024638G>A	ENST00000375244.3	-	23	8069	c.7868C>T	c.(7867-7869)cCt>cTt	p.P2623L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2623L			P22105	TENX_HUMAN	tenascin XB	2683	Fibronectin type-III 18.				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						GGGGGGCTCAGGGGTCATGGT	0.622000													44	121					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255247	24255247	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24255247G>A	ENST00000538205.1	+	8	989	c.442G>A	c.(442-444)Gat>Aat	p.D148N	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.D227N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D148N	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	227					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTTGGTGCTGGATAATGCCTT	0.353000													34	32					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769747	247769747	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247769747C>T	ENST00000320002.2	+	1	892	c.860C>T	c.(859-861)cCt>cTt	p.P287L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACTTTAAATCCTATCATCTAT	0.428000													29	123					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47900602	47900602	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47900602C>T	ENST00000503935.2	+	12	1993	c.957C>T	c.(955-957)atC>atT	p.I319I	KAT7_ENST00000454930.2_Silent_p.I336I|KAT7_ENST00000510819.1_Silent_p.I306I|KAT7_ENST00000259021.4_Silent_p.I475I|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000509773.1_Silent_p.I365I|KAT7_ENST00000424009.2_Silent_p.I445I|KAT7_ENST00000435742.2_Silent_p.I289I			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	475					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCTCCTGTATCCTTACTATGC	0.408000													5	132					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748072	19748072	+	Silent	SNP	C	C	T	rs1052442		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:19748072C>T	ENST00000400113.3	-	5	1388	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	428					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATCCTTCTCCAGAGCTGCCA	0.582000													97	166					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72815911	72815911	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72815911G>A	ENST00000335464.5	+	9	821	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TMEM104_ENST00000582773.1_Missense_Mutation_p.G220E|TMEM104_ENST00000417024.2_Missense_Mutation_p.G233E|TMEM104_ENST00000582330.1_Missense_Mutation_p.G220E	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	220						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTCCTCCTCGGACCGTTCACC	0.562000													37	118					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3076800	3076800	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3076800G>A	ENST00000602557.1	-	30	5207	c.4652C>T	c.(4651-4653)tCa>tTa	p.S1551L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S1551L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1551L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1551L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1551	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCGAACCCTGAAAGGCCCAC	0.453000													12	12					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153075392	153075392	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:153075392G>A	ENST00000367244.3	+	3	371	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	VIP_ENST00000367243.3_Missense_Mutation_p.E67K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	67					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TGCATTAGCTGAAAATGACAC	0.338000													31	53					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763772	160763772	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:160763772T>A	ENST00000274547.2	-	7	763	c.546A>T	c.(544-546)ggA>ggT	p.G182G	GABRB2_ENST00000520240.1_Silent_p.G182G|GABRB2_ENST00000393959.1_Silent_p.G182G|GABRB2_ENST00000517547.1_Silent_p.G22G|GABRB2_ENST00000353437.6_Silent_p.G182G|GABRB2_ENST00000517901.1_Silent_p.G119G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	182					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGTTGTGTATCCATCTGTGA	0.343000													40	59					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41963934	41963934	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:41963934C>T	ENST00000454645.1	-	0	661					NR_003670.1																						GTCCTGATTTCCATGATATCT	0.403000													12	121					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053357	133053357	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133053357C>T	ENST00000262283.5	-	9	1078	c.979G>A	c.(979-981)Gac>Aac	p.D327N	OC90_ENST00000603859.1_Missense_Mutation_p.D131N|OC90_ENST00000254627.3_Missense_Mutation_p.D131N|OC90_ENST00000443356.2_Missense_Mutation_p.D131N			Q02509	OC90_HUMAN	otoconin 90	131	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.D327Y(1)|p.D137Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGGAGACAGTCCATCTCAGCG	0.587000													77	154					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544332	82544332	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82544332G>A	ENST00000423517.2	-	7	13307	c.12970C>T	c.(12970-12972)Cta>Tta	p.L4324L	PCLO_ENST00000333891.8_Silent_p.L4324L|PCLO_ENST00000437081.1_Silent_p.L1044L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4255					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						GAAACATCTAGAGCTTCAGCC	0.438000													23	72					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025832	72025832	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:72025832C>T	ENST00000277942.5	-	2	330		c.e2+1			NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1							integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CCCGCACTCACCAGTGATGAG	0.527000													25	74					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707187	54707187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54707187C>T	ENST00000545554.1	+	18	4855	c.4855C>T	c.(4855-4857)Caa>Taa	p.Q1619*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q1619*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q1617*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1619					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAGGTTTCCTCAAGAGCTGAA	0.303000													6	35					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083731	32083731	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32083731G>A	ENST00000375201.4	-	18	1933	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	ATF6B_ENST00000375203.3_Missense_Mutation_p.R633C			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	633					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGGGCCCCACGGCCTGACAGG	0.582000													20	58					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925666	67925666	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67925666G>A	ENST00000304363.4	-	11	2500	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTCAATTTGGGAATCCCAGA	0.368000													11	408					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263546	248263546	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248263546G>A	ENST00000366478.2	+	3	1206	c.869G>A	c.(868-870)aGc>aAc	p.S290N	OR2L13_ENST00000358120.2_Missense_Mutation_p.S290N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATTATCTACAGCCTGAGGAAT	0.488000													32	88					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013120	103013120	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103013120G>A	ENST00000409599.1	+	12	1756	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	IL18R1_ENST00000233957.1_Missense_Mutation_p.R467K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	467	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGTGGAAAGAAAAATTAAA	0.353000													26	57					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103245469	103245469	+	Missense_Mutation	SNP	G	G	A	rs62642920		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:103245469G>A	ENST00000553106.1	-	8	1380	c.908C>T	c.(907-909)tCc>tTc	p.S303F	PAH_ENST00000307000.2_Missense_Mutation_p.S298F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	303			S -> P (in PKU; haplotype 5).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCTTACCTGGGAAAACTGGGC	0.493000													9	66					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170169672	170169672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:170169672C>T	ENST00000588451.1	+	11	1201	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	C6orf70_ENST00000392095.4_Missense_Mutation_p.P240S|C6orf70_ENST00000366772.2_Missense_Mutation_p.P366S|C6orf70_ENST00000418781.3_Missense_Mutation_p.P366S|C6orf70_ENST00000366773.3_Missense_Mutation_p.P366S			Q5T6L9	CF070_HUMAN		366						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TCAGGAGGGTCCCCGCATAAG	0.403000													4	51					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146718	70146718	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70146718C>T	ENST00000335568.5	+	1	502	c.500C>T	c.(499-501)cCg>cTg	p.P167L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P167L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	167					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)	CTTAACATACCGTTTGTGTAC	0.408000													47	135					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10893656	10893656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10893656C>T	ENST00000314646.5	+	6	873	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	DNM2_ENST00000408974.4_Missense_Mutation_p.R237C|DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C			P50570	DYN2_HUMAN	dynamin 2	237					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGTGGTGAACCGCAGCCAGAA	0.597000			"""F, N, Splice, Mis, O"""		ETP ALL								35	75					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325274	9325274	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9325274C>T	ENST00000308682.2	-	1	268	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCACTAGCATCTTGGGGACTG	0.502000													49	103					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155504409	155504409	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:155504409G>A	ENST00000461783.3	+	16	4112	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	TIAM2_ENST00000367174.2_Missense_Mutation_p.E323K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E283K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E259K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E947K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E971K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E947K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E947K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	947	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTAAATGGGGAAGCTGTGTC	0.468000													81	42					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241920714	241920714	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:241920714C>T	ENST00000366552.2	+	14	2077	c.1870C>T	c.(1870-1872)Cca>Tca	p.P624S	WDR64_ENST00000437684.2_Missense_Mutation_p.P624S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	624										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATTCCTTTCCCAGATGTCGA	0.408000													38	94					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57313413	57313413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:57313413C>T	ENST00000374900.4	+	1	275	c.155C>T	c.(154-156)tCg>tTg	p.S52L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	52						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CTTCTGCTTTCGGGGATGCAG	0.522000										HNSCC(52;0.14)			13	1					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122047633	122047633	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122047633G>A	ENST00000334010.7	-	18	3122	c.2701C>T	c.(2701-2703)Cct>Tct	p.P901S	CADPS2_ENST00000449022.2_Missense_Mutation_p.P903S|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.P897S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P897S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	903	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGGAAAAGAGGAAAACTATCC	0.418000													11	34					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41455067	41455067	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41455067C>T	ENST00000599198.1	+	0	1458					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTGAAGACATCGATCTGACAC	0.567000													20	42					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48319109	48319109	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48319109C>T	ENST00000376876.3	-	13	1837	c.994G>A	c.(994-996)Gac>Aac	p.D332N	SLC38A5_ENST00000376875.1_Missense_Mutation_p.D281N|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.D332N			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	332					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ATGAGCGGGTCCTTCTGGCTG	0.637000													28	8					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039377	11039377	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11039377C>T	ENST00000470054.1	-	0	826									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACATTTTCATTTCTTCAC	0.338000													20	400					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47912431	47912431	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47912431C>T	ENST00000331559.5	-	8	1173	c.732G>A	c.(730-732)cgG>cgA	p.R244R	MEIS3_ENST00000558555.1_Silent_p.R261R|MEIS3_ENST00000561096.1_Silent_p.R349R|MEIS3_ENST00000561293.1_Silent_p.R261R|MEIS3_ENST00000441740.2_Silent_p.R244R|MEIS3_ENST00000559524.1_Silent_p.R261R|MEIS3_ENST00000560253.1_5'UTR	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	261	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TCTTGTTTCGCCGTCGCTCCT	0.612000													40	51					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408672	130408672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:130408672C>T	ENST00000370904.1	-	24	4535	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R	IGSF1_ENST00000370910.1_Missense_Mutation_p.G1209R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1218R|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1223R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1218	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATGCCTTTTCCTTCTACGTTG	0.527000													14	228					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945233	119945233	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:119945233G>A	ENST00000297350.4	-	2	715	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	113					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TCTATCTCAAGGTAGCGCCCT	0.517000													17	68					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46386072	46386072	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:46386072G>A	ENST00000359930.4	-	2	887	c.36C>T	c.(34-36)tcC>tcT	p.S12S	SULF2_ENST00000484875.1_Silent_p.S12S|SULF2_ENST00000467815.1_Silent_p.S12S|SULF2_ENST00000361612.4_Silent_p.S12S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	12					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACACAGTTGCGGACAGCAAGC	0.587000													4	10					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84375216	84375216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:84375216C>T	ENST00000428679.2	-	3	808	c.215G>A	c.(214-216)tGg>tAg	p.W72*	SNAP91_ENST00000521743.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.W72*|SNAP91_ENST00000439399.2_Nonsense_Mutation_p.W72*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.W72*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	72	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CACAACCACCCAGCTACTGTT	0.413000													10	213					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808180	18808180	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:18808180G>A	ENST00000400664.1	+	1	757	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	235						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGAAGAGGCTGGGGCTC	0.602000													39	66					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57604361	57604361	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57604361C>T	ENST00000340339.4	+	10	1645	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	GPR114_ENST00000394361.4_Intron|GPR114_ENST00000349457.3_Silent_p.L374L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	374					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						TGCTTTCCCTCTCTGTCAAGA	0.627000													44	35					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111540575	111540575	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:111540575G>A	ENST00000428084.1	-	15	1607	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.G445G			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	445	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTCCCCAGAGCCGAAGGAGA	0.453000													5	30					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130914493	130914493	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130914493G>C	ENST00000540948.1	+	5	580	c.507G>C	c.(505-507)aaG>aaC	p.K169N	LCN2_ENST00000373017.1_Missense_Mutation_p.K169N|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.K169N|LCN2_ENST00000372998.1_Missense_Mutation_p.K171N|LCN2_ENST00000373013.2_Missense_Mutation_p.K171N			P80188	NGAL_HUMAN	lipocalin 2	169					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CGGAACTAAAGGAGAACTTCA	0.527000													23	76					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055068	9055068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9055068C>T	ENST00000383836.3	-	17	2498	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E667K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	691					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512000			T	RAF1	pilocytic astrocytoma								27	61					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040721	147040721	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147040721C>T	ENST00000265272.5	-	3	884	c.417G>A	c.(415-417)gaG>gaA	p.E139E	JAKMIP2_ENST00000333010.6_Silent_p.E97E|JAKMIP2_ENST00000507386.1_Silent_p.E139E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	139						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGCCTCCTCCCGGGCCT	0.557000													81	190					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	436281	436281	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:436281G>A	ENST00000264554.6	-	7	836	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	279	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACTCCAGGATGTGGCAGG	0.687000													11	13					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32459550	32459550	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:32459550G>A	ENST00000283365.9	+	19	2128	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	DTNA_ENST00000591182.1_Missense_Mutation_p.E298K|DTNA_ENST00000399121.5_Missense_Mutation_p.E597K|DTNA_ENST00000399097.3_Missense_Mutation_p.E298K|DTNA_ENST00000399113.3_Missense_Mutation_p.E650K|DTNA_ENST00000598142.1_Missense_Mutation_p.E593K|DTNA_ENST00000269192.7_Missense_Mutation_p.E359K|DTNA_ENST00000601125.1_Missense_Mutation_p.E272K|DTNA_ENST00000444659.1_Missense_Mutation_p.E650K|DTNA_ENST00000269190.7_Missense_Mutation_p.E651K|DTNA_ENST00000556414.3_Missense_Mutation_p.E302K|DTNA_ENST00000590831.2_Missense_Mutation_p.E76K|DTNA_ENST00000595022.1_Missense_Mutation_p.E590K|DTNA_ENST00000598334.1_Missense_Mutation_p.E590K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	650					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGTGGATTCTGAATTTGCACG	0.408000													30	59					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434961	35434961	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35434961G>A	ENST00000439785.1	+	5	1538	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	ZNF30_ENST00000303586.7_Missense_Mutation_p.R365Q|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R283Q|ZNF30_ENST00000601142.1_Missense_Mutation_p.R364Q	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCACATCAGCGAATTCATGCA	0.448000													33	57					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87364999	87364999	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:87364999G>A	ENST00000311635.7	-	9	1527	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	505					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACAGGCTGAAGGATTTCAGCT	0.617000													22	25					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541874	70541874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:70541874C>T	ENST00000310961.5	+	24	4523	c.4105C>T	c.(4105-4107)Cca>Tca	p.P1369S	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1411S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P695S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1411						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTTCAGTCACCATTGCCTAT	0.517000													37	113					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123177408	123177408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:123177408G>A	ENST00000349780.4	-	28	4386	c.4207C>T	c.(4207-4209)Cga>Tga	p.R1403*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.R1362*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.R1403*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.R1371*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1403					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAAAGTTCGAATTTCCTGT	0.348000													44	92					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11608482	11608482	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11608482G>A	ENST00000262442.3	+	26	5600	c.5532G>A	c.(5530-5532)gtG>gtA	p.V1844V	DNAH9_ENST00000454412.2_Silent_p.V1844V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1844	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCGCTTGGTGATCACACCTT	0.517000													32	45					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292882	4292882	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4292882C>T	ENST00000301272.2	-	5	608	c.562_splice	c.e5-1	p.G188_splice	TMIGD2_ENST00000600349.1_Splice_Site_p.G16_splice|TMIGD2_ENST00000595645.1_Splice_Site_p.G184_splice|TMIGD2_ENST00000600114.1_Splice_Site_p.G68_splice	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	188						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATGCATTTCCTAGGATGGA	0.532000													15	121					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62719710	62719710	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:62719710C>T	ENST00000280377.5	+	6	737	c.679C>T	c.(679-681)Cct>Tct	p.P227S	USP15_ENST00000312635.6_Missense_Mutation_p.P227S|USP15_ENST00000353364.3_Missense_Mutation_p.P227S|USP15_ENST00000393654.3_Missense_Mutation_p.P231S|USP15_ENST00000550632.1_Intron	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	227					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCCTTCTACTCCTAAGTAAGT	0.373000													21	62					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908242	158908242	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158908242G>A	ENST00000368140.1	+	3	566	c.321G>A	c.(319-321)acG>acA	p.T107T	PYHIN1_ENST00000392252.3_Silent_p.T98T|PYHIN1_ENST00000368135.4_Silent_p.T107T|PYHIN1_ENST00000368138.3_Silent_p.T98T|PYHIN1_ENST00000392254.2_Silent_p.T107T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	107					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTAAAAAGACGAAACAGAAAG	0.423000													86	92					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3095578	3095578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:3095578G>A	ENST00000397461.1	+	23	3283	c.2899G>A	c.(2899-2901)Gat>Aat	p.D967N	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.D967N|CNTN4_ENST00000358480.3_Missense_Mutation_p.D748N|CNTN4_ENST00000448906.2_Missense_Mutation_p.D639N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D967N|CNTN4_ENST00000397459.2_Missense_Mutation_p.D639N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	967	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTCGATGAAGATTATATAAT	0.393000													5	95					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96030328	96030328	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96030328C>T	ENST00000260766.3	+	18	5109	c.4475C>T	c.(4474-4476)cCt>cTt	p.P1492L	PLCE1_ENST00000371385.3_Missense_Mutation_p.P1184L|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1492L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1184L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1492	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTCATTGCCTCAGCAACGA	0.433000													52	104					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31828030	31828030	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31828030G>A	ENST00000375631.4	-	5	939	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	270			L -> F (in SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation).|L -> P (in SIALIDOSIS).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	AGCCATCTGGGAGCTCATAGG	0.577000													29	79					0	0	1	0	0
C11orf94	143678	broad.mit.edu	37	11	45928464	45928464	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45928464G>A	ENST00000449465.1	-	2	167	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	44						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CAGGGGGGCGGAAAATGCCTC	0.622000													43	88					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542690	14542690	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:14542690G>A	ENST00000358970.5	-	1	455	c.456C>T	c.(454-456)gtC>gtT	p.V152V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	152										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCTTTCTGGGGACCTTACCCC	0.582000													96	177					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59793358	59793358	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:59793358C>T	ENST00000395125.1	+	10	1328	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	DAAM1_ENST00000351081.1_Silent_p.V435V|DAAM1_ENST00000360909.3_Silent_p.V435V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	435					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTAAGAATGTCGTACGAATGT	0.378000													29	75					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741005	146741005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:146741005C>T	ENST00000361727.3	+	4	925	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	137	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P137S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGCATTTCCCGGAAACAT	0.408000										HNSCC(39;0.1)			23	158					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923362	6923362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6923362G>A	ENST00000011653.4	+	4	527	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.G35E	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	90	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.G90E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGGGACCAAGGAAACTTTCCC	0.502000													10	195					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408829	10408829	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10408829C>T	ENST00000226207.5	-	20	2269		c.e20-1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACCTTGTATCTGTTTAAGCC	0.423000													20	42					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853547	176853547	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176853547C>T	ENST00000367654.2	-	19	3191	c.3178G>A	c.(3178-3180)Gtg>Atg	p.V1060M	ASTN1_ENST00000367657.3_Missense_Mutation_p.V1052M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V1052M|ASTN1_ENST00000424564.2_Missense_Mutation_p.V1052M			O14525	ASTN1_HUMAN	astrotactin 1	1060	Fibronectin type-III 1.				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						ACAATCTGCACCCCGATTGGT	0.542000													67	84					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128845608	128845608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:128845608G>A	ENST00000249373.3	+	4	1185	c.905G>A	c.(904-906)aGg>aAg	p.R302K		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	302					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCACCATGAGGCTTGGGGAG	0.592000			Mis		skin basal cell								18	102					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597389	64597389	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64597389G>A	ENST00000342711.5	-	30	3520	c.3521C>T	c.(3520-3522)cCc>cTc	p.P1174L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1174	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCGAGACTCGGGGATCTTGGC	0.662000													20	76					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759815	152759815	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152759815C>T	ENST00000368770.3	+	2	93	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	LCE1E_ENST00000368771.1_Missense_Mutation_p.P14S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	14	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCCCctcccaagtgcac	0.592000													167	170					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	449879	449879	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:449879G>A	ENST00000432829.2	+	45	6025	c.5709G>A	c.(5707-5709)aaG>aaA	p.K1903K	DOCK8_ENST00000453981.1_Silent_p.K1971K|DOCK8_ENST00000469391.1_Silent_p.K1871K|DOCK8_ENST00000382329.1_Silent_p.K1438K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1971					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTGATGCAAAGATGCTTCAGA	0.463000													81	40					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890598	55890598	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55890598C>T	ENST00000313472.3	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GAGTCACCATCTTCTATGGAA	0.393000													9	153					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225594413	225594413	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:225594413G>A	ENST00000338179.2	-	11	1561	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	LBR_ENST00000272163.4_Missense_Mutation_p.P479L	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	479					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CACTTCATTTGGATGACTGAC	0.368000													64	100					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155112	71155112	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71155112G>A	ENST00000355527.3	-	4	524	c.248C>T	c.(247-249)tCg>tTg	p.S83L	DHCR7_ENST00000407721.2_Missense_Mutation_p.S83L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	83					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CCAGATGTCCGAGAGCCGAGC	0.602000									Smith-Lemli-Opitz syndrome				7	18					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35155081	35155081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:35155081G>A	ENST00000156471.5	-	33	4241	c.4016C>T	c.(4015-4017)cCa>cTa	p.P1339L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1339						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTAGTAGTTGGGAAAGGTTC	0.408000													7	78					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546684	9546684	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9546684C>T	ENST00000378429.3	-	6	1884	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PAK7_ENST00000353224.5_Silent_p.R446R|PAK7_ENST00000378423.1_Silent_p.R446R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	446	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAAGTATTCCCTGGGGTCTC	0.587000													52	102					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641307	99641307	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:99641307G>A	ENST00000345514.2	-	3	1919	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	BCL11B_ENST00000443726.2_Silent_p.A428A|BCL11B_ENST00000357195.3_Silent_p.A622A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	622	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCAGGAAGGCGCCGCGCT	0.761000			T	TLX3	T-ALL								10	12					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123455	140123455	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:140123455G>A	ENST00000458420.3	+	4	674	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	162	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACCTTCAAAGAGCCAGCCTA	0.532000										HNSCC(16;0.037)			22	72					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31598528	31598528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:31598528G>A	ENST00000399332.1	-	25	4537	c.4049C>T	c.(4048-4050)tCa>tTa	p.S1350L	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1350L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1350	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AACAGTGGATGAAACAGGTTT	0.498000													5	154					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880906	70880906	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:70880906C>T	ENST00000333538.5	+	4	1255	c.621C>T	c.(619-621)gtC>gtT	p.V207V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	207	Catalytic subdomain A.					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)				AGGAGTATGTCCACAAACGCT	0.512000													27	92					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863825	176863825	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176863825C>T	ENST00000367654.2	-	17	2850	c.2837G>A	c.(2836-2838)cGa>cAa	p.R946Q	ASTN1_ENST00000367657.3_Missense_Mutation_p.R938Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R938Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R938Q			O14525	ASTN1_HUMAN	astrotactin 1	946					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						CGAGGGGCATCGTCCCTTGCT	0.602000													61	154					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150841133	150841133	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:150841133G>A	ENST00000370357.4	+	14	2161	c.1916_splice	c.e14+1	p.S639_splice		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	639						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTCAAAGGTAAGACATG	0.488000													44	18					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325331	79325331	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79325331G>A	ENST00000428286.1	-	8	1982	c.782C>T	c.(781-783)tCg>tTg	p.S261L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S620L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	620					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTGGATGGCGAGCTTTCTAC	0.483000													36	67					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177928106	177928106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177928106C>T	ENST00000308284.6	-	9	1092	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R314K|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.D336N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	335					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTATGTACATCTTCCCTACAT	0.507000													4	39					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252650	21252650	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21252650C>T	ENST00000233242.1	-	12	1605	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	APOB_ENST00000399256.4_Missense_Mutation_p.G493E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	493	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCCATATTTCCAATGACCTG	0.428000													54	105					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274325	233274325	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:233274325G>A	ENST00000295453.3	+	11	1394	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	448					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCCCTGGACGGAGAGACCCA	0.637000													17	36					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48440204	48440204	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48440204A>C	ENST00000004980.5	-	17	2285	c.1807T>G	c.(1807-1809)Tgt>Ggt	p.C603G	SENP1_ENST00000448372.1_Missense_Mutation_p.C602G|SENP1_ENST00000549595.1_Missense_Mutation_p.C602G|SENP1_ENST00000551330.1_Missense_Mutation_p.C603G|SENP1_ENST00000549518.1_Missense_Mutation_p.C603G|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	603	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AACATCCCACAGTCACTTCCA	0.408000													48	128					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66933110	66933110	+	Missense_Mutation	SNP	C	C	T	rs146420113		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66933110C>T	ENST00000269080.2	-	4	585	c.448G>A	c.(448-450)Gag>Aag	p.E150K	ABCA8_ENST00000430352.2_Missense_Mutation_p.E150K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E150K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	150						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCTTGTGCTCCTTCTTTGCT	0.363000													4	112					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321625	78321625	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78321625C>T	ENST00000582970.1	+	29	9633	c.9490C>T	c.(9490-9492)Ccc>Tcc	p.P3164S	RNF213_ENST00000336301.6_Missense_Mutation_p.P1237S|RNF213_ENST00000508628.2_Missense_Mutation_p.P3213S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTTCCCATCCCCCTCATTAA	0.542000													29	83					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906197	144906197	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:144906197C>T	ENST00000529945.1	-	15	3365		c.e15-1		PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGCAGGTCCTAGAAGTCAA	0.388000			T	PDGFRB	MPD								7	205					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543768	141543768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141543768C>T	ENST00000442267.2	-	21	3456	c.3382G>A	c.(3382-3384)Gga>Aga	p.G1128R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1128						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCCATTTGTCCTCCAAGGGAG	0.637000													8	98					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197242	32197242	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:32197242G>A	ENST00000375250.5	-	3	783	c.542C>T	c.(541-543)cCc>cTc	p.P181L	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P181L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.P181L|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P181L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P181L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTCTGGACCGGGAAAATGACC	0.433000													36	92					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566502	100566502	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100566502G>A	ENST00000471714.1	-	19	1722	c.1613C>T	c.(1612-1614)gCc>gTc	p.A538V	ABI3BP_ENST00000284322.5_Missense_Mutation_p.A489V|ABI3BP_ENST00000495063.1_Missense_Mutation_p.A538V			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	489	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATTGTTCCGGCACTTGTGGT	0.363000													8	172					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406167	39406167	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39406167C>T	ENST00000334109.2	+	1	229	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	65	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCAGCCCACCTGTGTGACCA	0.647000													80	121					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969346	47969346	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47969346C>T	ENST00000236877.6	-	2	710	c.315G>A	c.(313-315)aaG>aaA	p.K105K	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	105					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGTGATCTCCTTCTCTTTTG	0.567000													9	131					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155646	151155646	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151155646G>A	ENST00000282466.3	-	6	6702	c.6703C>T	c.(6703-6705)Cca>Tca	p.P2235S	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2235	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGATTAATGGAGGTTTAGAG	0.433000													56	105					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917275	4917275	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4917275C>T	ENST00000399583.3	-	2	683	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RADIL_ENST00000536091.1_Missense_Mutation_p.E166K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	166					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCAGCTCCTCCACGTCCGAC	0.602000													54	75					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143235	179143235	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:179143235C>T	ENST00000247461.4	+	8	1051	c.851C>T	c.(850-852)cCc>cTc	p.P284L	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.P284L|CANX_ENST00000504734.1_Missense_Mutation_p.P284L|CANX_ENST00000512607.2_Missense_Mutation_p.P176L|CANX_ENST00000415618.2_Missense_Mutation_p.P319L	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	284	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCGGAAGCCCGAGGATTGG	0.478000													4	127					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913966	129913966	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:129913966G>A	ENST00000368654.3	-	7	1081	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	236					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCAAAAGGGAGATTCATTT	0.333000													26	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179560996	179560996	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179560996G>A	ENST00000589042.1	-	114	31027	c.30802_splice	c.e114-1	p.A10268_splice	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site_p.A9951_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.A9024_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9951	Glu-rich.|Pro-rich.						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)			GATTTCAGGAGCTAAAATAGA	0.308000													3	7					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421422	55421422	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55421422C>T	ENST00000594765.1	+	5	704	c.679C>T	c.(679-681)Cct>Tct	p.P227S	NCR1_ENST00000357397.5_Missense_Mutation_p.P120S|NCR1_ENST00000598576.1_Missense_Mutation_p.P215S|NCR1_ENST00000338835.5_Missense_Mutation_p.P227S|NCR1_ENST00000350790.5_Missense_Mutation_p.P132S|NCR1_ENST00000291890.4_Missense_Mutation_p.P227S|NCR1_ENST00000447255.1_Missense_Mutation_p.P227S			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	227					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	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)		CCCCACCTTTCCTGGTGAGTA	0.478000													86	189					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3114763	3114763	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:3114763G>A	ENST00000263650.7	-	17	2099	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	OSBPL5_ENST00000478260.1_Missense_Mutation_p.S101F|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S278F|OSBPL5_ENST00000348039.5_Missense_Mutation_p.S579F|OSBPL5_ENST00000389989.3_Missense_Mutation_p.S579F|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S558F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	647					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCACCTCTCGGACTCCAGCTC	0.667000													66	56					0	0	1	0	0
MACROD1	28992	broad.mit.edu	37	11	63933228	63933228	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63933228G>A	ENST00000255681.6	-	1	305	c.239C>T	c.(238-240)cCc>cTc	p.P80L	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	80										breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CATGGCCAGGGGGGCCCAAGT	0.731000													8	23					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57961348	57961348	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57961348G>A	ENST00000455537.2	+	8	935	c.661G>A	c.(661-663)Gag>Aag	p.E221K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E132K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	221	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CATGGAAACGGAGCAGAAGCT	0.542000													5	62					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52937736	52937736	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:52937736G>A	ENST00000371544.3	-	14	3028	c.2766C>T	c.(2764-2766)ggC>ggT	p.G922G	ZCCHC11_ENST00000257177.4_Silent_p.G922G|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	922					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTTTGAATGGCCATCCTTTT	0.353000													16	38					0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447680	3447680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrY:3447680C>T	ENST00000559055.2	+	1	525	c.395C>T	c.(394-396)gCc>gTc	p.A132V	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.A132V			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	132						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GATGCCCATGCCACCCACCTG	0.577000													8	14					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501874	28501874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28501874C>T	ENST00000412168.2	+	5	685	c.596C>T	c.(595-597)tCc>tTc	p.S199F	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	199					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGCGCTGGTCCCACCGGGCT	0.507000													42	115					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029367	102029367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:102029367C>T	ENST00000251127.6	-	5	497	c.416G>A	c.(415-417)tGg>tAg	p.W139*	NALCN_ENST00000376196.3_Nonsense_Mutation_p.W139*|NALCN_ENST00000376200.5_Nonsense_Mutation_p.W139*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	139						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACATGCCCCAAGGTGACAT	0.388000													27	33					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200868617	200868617	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200868617C>T	ENST00000367342.4	+	3	527	c.327C>T	c.(325-327)gtC>gtT	p.V109V	C1orf106_ENST00000413687.2_Silent_p.V24V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	109										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACAGCCCGGTCTCCCCAATGA	0.627000													36	89					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574227	98574227	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98574227C>T	ENST00000359863.4	+	54	8269	c.8060C>T	c.(8059-8061)cCc>cTc	p.P2687L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2669L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2669L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2687					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGCCAATCCCCATCCGACCC	0.602000													25	143					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994193	20994193	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20994193C>T	ENST00000261383.3	-	49	7708	c.7709G>A	c.(7708-7710)gGg>gAg	p.G2570E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2570	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGGCATCCCCTATTGGACT	0.517000													36	94					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623954	2623954	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2623954G>A	ENST00000296847.3	-	3	626	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	35										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGGCAGAGTGGCTCCATGCCA	0.602000													31	81					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969487	5969487	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:5969487G>A	ENST00000284898.6	-	18	1746	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516W|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507W|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320W	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGAAGGTCCCGAAAAGGGTGG	0.612000													81	103					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399925	87399925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87399925G>A	ENST00000338056.3	+	8	1120	c.709G>A	c.(709-711)Gag>Aag	p.E237K	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E220K|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E220K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	237										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGATGAGGAGGAGCTAAGGAC	0.383000													14	43					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403287	42403287	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:42403287C>T	ENST00000319234.4	+	2	754	c.536C>T	c.(535-537)tCc>tTc	p.S179F		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	179					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CGCAGGTTCTCCTTTGCCAGG	0.672000													51	93					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030033	95030033	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95030033G>A	ENST00000557004.1	+	2	635	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	SERPINA4_ENST00000555095.1_Missense_Mutation_p.G72R|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G72R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	72					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAGACCCCGGGGAAGAACAT	0.607000													4	139					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067403	46067403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46067403C>T	ENST00000295452.4	-	4	687	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	174					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAACTCGTCCATCATTCCAA	0.308000													21	63					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450851	110450851	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:110450851G>A	ENST00000260283.4	-	16	3103	c.2819C>T	c.(2818-2820)tCc>tTc	p.S940F	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S904F|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S914F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S914F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S904F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S917F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S483F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	940	Ser-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGTGCCTGGGGAGGATAAGCT	0.483000													35	72					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898965	36898965	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36898965G>A	ENST00000429976.2	-	12	2363	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	TRANK1_ENST00000428977.2_Missense_Mutation_p.P156S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P156S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	706					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGTCCTCTGGGAAAGACGGA	0.562000													5	65					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24895388	24895388	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:24895388G>A	ENST00000347898.3	+	8	1222	c.600G>A	c.(598-600)gtG>gtA	p.V200V	SLC5A11_ENST00000545376.1_Silent_p.V130V|SLC5A11_ENST00000565769.1_Silent_p.V136V|SLC5A11_ENST00000424767.2_Silent_p.V165V|SLC5A11_ENST00000568579.1_Silent_p.V130V|SLC5A11_ENST00000539472.1_Silent_p.V136V|SLC5A11_ENST00000569071.1_Silent_p.V136V|SLC5A11_ENST00000567758.1_Silent_p.V165V|SLC5A11_ENST00000449109.2_Silent_p.V136V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	200					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGGCTGCTGTGATCTACACGG	0.597000													110	249					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737542	152737542	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:152737542G>A	ENST00000367255.5	-	41	6631	c.6030C>T	c.(6028-6030)acC>acT	p.T2010T	SYNE1_ENST00000265368.4_Silent_p.T2010T|SYNE1_ENST00000423061.1_Silent_p.T2017T|SYNE1_ENST00000448038.1_Silent_p.T2017T|SYNE1_ENST00000341594.5_Silent_p.T2047T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2010					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGCTTGGCGGGTAGGTTCTT	0.393000										HNSCC(10;0.0054)			98	223					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197483326	197483326	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:197483326G>A	ENST00000241502.3	+	2	355	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.G19R|FYTTD1_ENST00000424384.2_5'UTR	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	45					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TCGAAAGGAAGGGAAGAAGCA	0.378000													36	68					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408258	110408258	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110408258G>A	ENST00000378402.5	+	11	918	c.814G>A	c.(814-816)Gtc>Atc	p.V272I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	272	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCCCCCAGAGGTCACCATGAT	0.393000										HNSCC(38;0.096)			4	12					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860971	16860971	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16860971C>T	ENST00000524140.2	+	6	1936	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	NWD1_ENST00000379808.3_Silent_p.L506L|NWD1_ENST00000552788.1_Silent_p.L506L|NWD1_ENST00000339803.6_Silent_p.L371L|NWD1_ENST00000549814.1_Silent_p.L506L|NWD1_ENST00000523826.1_Silent_p.L300L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	506	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGATCCAACTCCTGCTGGCAG	0.642000													37	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582441	179582441	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179582441T>C	ENST00000589042.1	-	87	25384	c.25160A>G	c.(25159-25161)gAa>gGa	p.E8387G	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E8070G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7143G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8070	Ig-like 66.						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)			TTGAAGAGGTTCTGAGCCATT	0.413000													9	31					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430483	27430483	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27430483G>A	ENST00000310574.3	-	3	509	c.36C>T	c.(34-36)tcC>tcT	p.S12S	SLC5A6_ENST00000408041.1_Silent_p.S12S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	12					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCGAGGTTGGGGAAAGAGGGG	0.587000													29	58					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928744	94928744	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:94928744C>T	ENST00000357742.4	+	13	1778	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	MCTP2_ENST00000451018.3_Missense_Mutation_p.P593L|MCTP2_ENST00000331706.4_Missense_Mutation_p.P181L|MCTP2_ENST00000557742.1_Missense_Mutation_p.P181L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTGCCATTCCCTTGCTGTCC	0.358000													64	147					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249286	71249286	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71249286C>T	ENST00000398534.3	+	1	216	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	62	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GGCCGTGGCTCCTGTGGGGGC	0.657000													28	507					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205220	56205220	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56205220G>A	ENST00000361673.3	-	5	2412	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	733							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTCTTCCCTGAAATTGTCAG	0.468000													68	181					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22233080	22233080	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:22233080G>A	ENST00000401957.2	-	1	447	c.200C>T	c.(199-201)tCt>tTt	p.S67F	RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	67					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ATATCTGTCAGAGAGCAGAGA	0.512000													3	9					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521364	40521364	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40521364C>G	ENST00000347077.4	+	7	2403	c.2187C>G	c.(2185-2187)acC>acG	p.T729T	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.T703T	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGGAAAGACCTTTAGTCGTC	0.378000													40	68					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537694	55537694	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:55537694G>A	ENST00000220676.1	+	4	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	418					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E418K(1)		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)			TCAAGTGGCTGAAACTTGCAG	0.453000													47	61					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170088965	170088965	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:170088965G>A	ENST00000333572.6	-	2	656	c.137C>T	c.(136-138)cCt>cTt	p.P46L	WDR27_ENST00000448612.1_Missense_Mutation_p.P46L|WDR27_ENST00000420344.2_Missense_Mutation_p.P46L|WDR27_ENST00000423258.1_Missense_Mutation_p.P46L			A2RRH5	WDR27_HUMAN	WD repeat domain 27	46								p.P46H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCCATCCAAAGGGAAAGCACA	0.438000													42	125					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313509	57313509	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57313509G>A	ENST00000457912.1	+	5	1127	c.1127_splice	c.e5+1	p.G376_splice	SMTNL1_ENST00000399154.2_Splice_Site_p.G321_splice|SMTNL1_ENST00000527972.1_Splice_Site_p.G358_splice			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	358										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGTTTGGCGGGTAGGACACA	0.667000													8	27					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005095	74005095	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74005095C>T	ENST00000301607.3	-	22	4444	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E	EVPL_ENST00000586740.1_Silent_p.E1419E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1397	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCCACCTCCTCATCCAGGC	0.697000													71	218					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117815	117815	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117815G>A	ENST00000382500.2	-	1	602	c.305C>T	c.(304-306)cCg>cTg	p.P102L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	102					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCTTTGCCGGCTGCCGGGC	0.667000													6	298					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133587	177133587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177133587C>A	ENST00000367654.2	-	1	239	c.226G>T	c.(226-228)Gga>Tga	p.G76*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.G76*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.G76*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.G76*			O14525	ASTN1_HUMAN	astrotactin 1	76					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						ACCATTTCTCCCGGGAAGTCG	0.672000													38	21					7.04047e-22	7.11661e-22	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85500302	85500302	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:85500302C>T	ENST00000393217.2	+	15	3347	c.3286C>T	c.(3286-3288)Ctt>Ttt	p.L1096F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1096										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCTGTAGATCTTAAAAGTGC	0.323000													37	65					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599228	136599228	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136599228G>A	ENST00000531224.1	-	4	1043	c.791C>T	c.(790-792)tCc>tTc	p.S264F	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S264F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S264F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S262F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S262F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S262F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	264					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATGCTGAATGGAATGTGAATG	0.443000													20	87					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171302	207171302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207171302G>A	ENST00000374423.3	+	5	2436	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	684							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						TCAAGTAGCCGAAATAGAGCG	0.443000													20	26					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091515	122091515	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122091515C>T	ENST00000334010.7	-	14	2625	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	CADPS2_ENST00000449022.2_Missense_Mutation_p.G734E|CADPS2_ENST00000412584.2_Missense_Mutation_p.G731E|CADPS2_ENST00000313070.7_Missense_Mutation_p.G731E	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	734					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAAACAGTCCCAATTCCATC	0.274000													7	52					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206830	116206830	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:116206830G>A	ENST00000355485.2	+	4	1024	c.753G>A	c.(751-753)acG>acA	p.T251T	VANGL1_ENST00000369509.1_Silent_p.T251T|VANGL1_ENST00000310260.3_Silent_p.T251T|VANGL1_ENST00000369510.3_Silent_p.T249T	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	251			T -> M.		multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCATGTTCACGCTGCAGGTGG	0.582000													25	61					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20731752	20731752	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20731752C>T	ENST00000382148.3	-	8	967	c.630_splice	c.e8-1	p.D211_splice	KCNIP4_ENST00000359001.5_Splice_Site_p.D174_splice|KCNIP4_ENST00000382150.4_Splice_Site_p.D215_splice|KCNIP4_ENST00000382152.2_Splice_Site_p.D236_splice|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Splice_Site_p.D202_splice|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Splice_Site_p.D174_splice	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	236	EF-hand 4.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATGTTTTCATCCTGTAAGGGA	0.408000													5	101					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118725	34118725	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34118725C>T	ENST00000297161.2	+	13	1709	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	BMPER_ENST00000426693.1_Silent_p.I445I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	445	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTCGCGCATCGCGCTCCCCT	0.657000													54	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002546	9002546	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9002546C>T	ENST00000397910.4	-	51	40473	c.40270G>A	c.(40270-40272)Gag>Aag	p.E13424K	MUC16_ENST00000380951.5_Missense_Mutation_p.E65K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13426	SEA 9.				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						GGGCCCAGCTCAGTGATGCCG	0.567000													12	397					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566410	41566410	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:41566410T>C	ENST00000396942.1	-	17	1967	c.1884A>G	c.(1882-1884)gcA>gcG	p.A628A	ANK1_ENST00000379758.2_Silent_p.A628A|ANK1_ENST00000352337.4_Silent_p.A628A|ANK1_ENST00000265709.8_Silent_p.A661A|ANK1_ENST00000396945.1_Silent_p.A628A|ANK1_ENST00000289734.7_Silent_p.A628A|ANK1_ENST00000347528.4_Silent_p.A628A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	628	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCGGCGTTTGCTGAGCCCC	0.607000													76	120					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672415	117672415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117672415G>A	ENST00000317775.6	-	21	3875	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.Q1098*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1064	FAD-binding FR-type.		Q -> R (in dbSNP:rs9658482).		multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCACCATCTGGTTGACAGGC	0.622000													28	83					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335142	7335142	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:7335142C>T	ENST00000318881.6	+	3	1251	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	SYT9_ENST00000396716.2_Silent_p.I306I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	338						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGGAGTGCATCCTTTGGAAGG	0.463000													64	61					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73102220	73102220	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:73102220C>T	ENST00000064780.2	+	5	580	c.319C>T	c.(319-321)Cca>Tca	p.P107S	RELT_ENST00000393580.2_Missense_Mutation_p.P107S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	107						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCCCCGCGTTCCATGTCAACC	0.597000													73	151					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440099	40440099	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40440099G>A	ENST00000319592.4	-	4	1521	c.812C>T	c.(811-813)cCc>cTc	p.P271L	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.P271L|RBM47_ENST00000514014.1_Missense_Mutation_p.P233L|RBM47_ENST00000295971.7_Missense_Mutation_p.P271L|RBM47_ENST00000381793.2_Missense_Mutation_p.P271L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	271	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACGCAGCCGGGGTTGAACTG	0.592000													38	79					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168415	49168415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49168415C>T	ENST00000340334.7	-	20	2469	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	FOLH1_ENST00000256999.2_Missense_Mutation_p.E716K|FOLH1_ENST00000343844.4_Missense_Mutation_p.E408K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E670K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E685K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	716					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACTTTGCTTTCAATATCAAAC	0.458000													34	108					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063854	3063854	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3063854T>G	ENST00000445369.2	+	1	1398	c.491T>G	c.(490-492)cTc>cGc	p.L164R		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	164					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GGGGCCTCCCTCTACCTGGGC	0.716000													28	57					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:142795189C>T	ENST00000370498.1	-	2	1242	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	163										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502000													226	96					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37447009	37447009	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:37447009G>A	ENST00000379826.4	-	3	798	c.456C>T	c.(454-456)ccC>ccT	p.P152P	SMAD9_ENST00000350148.5_Silent_p.P152P|SMAD9_ENST00000399275.2_Silent_p.P152P	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	152					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGCTGAGCTGGGGGTTATATT	0.537000													4	69					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31154767	31154767	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31154767C>T	ENST00000268281.4	-	8	1054	c.996G>A	c.(994-996)ggG>ggA	p.G332G	PRSS36_ENST00000418068.2_Silent_p.G332G|PRSS36_ENST00000569305.1_Silent_p.G332G	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	332	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGGGCCAGGCCCCTGGCCGCG	0.662000													35	81					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100204460	100204460	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:100204460C>T	ENST00000376387.4	+	13	1558	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	456					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ATCTGATCCTCTGGGGAGAAG	0.418000													49	66					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903932	70903932	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70903932C>T	ENST00000264436.3	-	13	2033	c.1589G>A	c.(1588-1590)aGc>aAc	p.S530N	ADD2_ENST00000430656.1_Missense_Mutation_p.S546N|ADD2_ENST00000355733.3_Missense_Mutation_p.S530N|ADD2_ENST00000413157.2_Missense_Mutation_p.S530N|ADD2_ENST00000407644.2_Missense_Mutation_p.S530N	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	530					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTCTACCGGGCTTCGGCTCTT	0.607000													39	69					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806614	100806614	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100806614C>T	ENST00000323346.5	+	10	1566	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.S368F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	418					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GTGGCTATCTCCTTTCTGGTA	0.448000													57	133					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183305	35183305	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:35183305C>T	ENST00000381318.3	+	21	2634	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ITSN1_ENST00000379960.5_Silent_p.P777P|ITSN1_ENST00000437442.2_Silent_p.P777P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.P777P|ITSN1_ENST00000399349.1_Silent_p.P777P|ITSN1_ENST00000399355.2_Silent_p.P782P|ITSN1_ENST00000399353.1_Silent_p.P740P|ITSN1_ENST00000399367.3_Silent_p.P777P|ITSN1_ENST00000381285.4_Silent_p.P782P|ITSN1_ENST00000399326.3_Silent_p.P777P|ITSN1_ENST00000399338.4_Silent_p.P777P|ITSN1_ENST00000381291.4_Silent_p.P782P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	782	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.P782P(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTGGAGAACCCGGCTGGCTTG	0.468000													83	163					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237083	56237083	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56237083C>T	ENST00000312240.2	-	1	931	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCATCATGGCCTTTTTCACAT	0.363000													15	39					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035961	37035961	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37035961G>A	ENST00000379242.3	+	15	2038	c.1736G>A	c.(1735-1737)aGg>aAg	p.R579K	VIT_ENST00000404084.1_Missense_Mutation_p.R516K|VIT_ENST00000379241.3_Missense_Mutation_p.R542K|VIT_ENST00000497382.1_Missense_Mutation_p.R233K|VIT_ENST00000401530.1_Missense_Mutation_p.R543K|VIT_ENST00000389975.3_Missense_Mutation_p.R564K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	564	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCCATCAAGAGGGTGGGCTAC	0.582000													40	57					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61070076	61070076	+	Silent	SNP	G	G	A	rs148129833	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61070076G>A	ENST00000301764.7	-	24	3487	c.3090C>T	c.(3088-3090)ttC>ttT	p.F1030F	DDB1_ENST00000451943.2_Silent_p.F17F|DDB1_ENST00000450997.2_Silent_p.F341F|DDB1_ENST00000538470.1_Silent_p.F77F	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1030	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGACCGTGCCGAAGAGCACCG	0.572000								Nucleotide excision repair (NER)					82	181					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24825769	24825769	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24825769A>C	ENST00000376451.2	+	12	2790	c.2530A>C	c.(2530-2532)Agt>Cgt	p.S844R	KIAA1217_ENST00000307544.6_Missense_Mutation_p.S844R|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1125R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S844R|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1126R|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1161R			Q5T5P2	SKT_HUMAN	KIAA1217	1161					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCGGGCTGACAGTCACGTTAA	0.488000													55	101					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198078	20198078	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20198078G>A	ENST00000400331.5	-	5	2214	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F	MACC1_ENST00000332878.4_Missense_Mutation_p.L636F|MACC1_ENST00000589011.1_Missense_Mutation_p.L636F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	636					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATCTGTTCAAGAAGATTTCTG	0.338000													40	112					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96086093	96086093	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:96086093C>T	ENST00000376873.3	+	1	236	c.6C>T	c.(4-6)tcC>tcT	p.S2S		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	0					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCGACATGTCCAGGGCGCAGA	0.587000													22	25					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945877	144945877	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144945877G>A	ENST00000525985.1	-	2	1616	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F				P58107	EPIPL_HUMAN	epiplakin 1	515						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCTCAGAGAAGAGCAGCT	0.657000													21	22					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606007	37606007	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37606007G>A	ENST00000434837.2	-	16	3928	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	MDGA1_ENST00000297153.7_Missense_Mutation_p.P921L|MDGA1_ENST00000505425.1_Missense_Mutation_p.P917L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	917	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCTTCCGGGGACACTCCCC	0.582000													35	91					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104014258	104014258	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:104014258G>A	ENST00000388887.2	+	4	548	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	115	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCCAGGTGGAGCGGGGTCA	0.488000													4	12					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637362	60637362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60637362G>A	ENST00000278853.5	+	3	671	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	224					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTGAACAAACGAGATTACATA	0.562000													21	56					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943132	12943132	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12943132G>A	ENST00000235349.5	-	2	154	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	28										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGGGTGGACATGGCCA	0.587000													97	95					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214542	46214542	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46214542C>T	ENST00000371374.1	-	4	705	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RCAN2_ENST00000306764.7_Missense_Mutation_p.D172N|RCAN2_ENST00000330430.6_Missense_Mutation_p.D126N|RCAN2_ENST00000405162.1_Missense_Mutation_p.D172N	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	126					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGTGGCATCGTTGATGGGC	0.527000													24	77					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768652	31768652	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31768652C>T	ENST00000355459.2	+	1	261	c.248C>T	c.(247-249)cCc>cTc	p.P83L		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	83	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTACCGTCCCAGAACCTCC	0.607000													25	82					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818724	17818724	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:17818724T>C	ENST00000545871.1	-	3	1867	c.1407A>G	c.(1405-1407)aaA>aaG	p.K469K	RAI2_ENST00000331511.1_Silent_p.K469K|RAI2_ENST00000415486.3_Silent_p.K419K|RAI2_ENST00000360011.1_Silent_p.K469K|RAI2_ENST00000451717.1_Silent_p.K469K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	469					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGTCTTCTCTTTTGAAGGAGA	0.507000													7	533					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1538283	1538283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1538283G>A	ENST00000381623.3	-	1	1206	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPD_ENST00000381621.1_Missense_Mutation_p.S6F|RP4-576H24.4_ENST00000564763.1_Intron			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	6						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTGGAGTGGGGAGGCAGGGAT	0.577000													7	89					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71883673	71883673	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71883673G>T	ENST00000307864.1	-	2	381	c.168C>A	c.(166-168)tcC>tcA	p.S56S	AIFM2_ENST00000373248.1_Silent_p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	56					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602000													16	45					1.5739e-10	1.58371e-10	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11622741	11622741	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11622741G>A	ENST00000262442.3	+	27	5711	c.5643G>A	c.(5641-5643)aaG>aaA	p.K1881K	DNAH9_ENST00000454412.2_Silent_p.K1881K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1881	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACCACCAAGGACCTGGGCC	0.617000													29	72					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38435241	38435241	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38435241A>C	ENST00000322350.5	+	16	2515	c.2169A>C	c.(2167-2169)ggA>ggC	p.G723G	EGFLAM_ENST00000336740.6_Silent_p.G489G|EGFLAM_ENST00000354891.3_Silent_p.G723G|EGFLAM_ENST00000397202.2_Silent_p.G89G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	723	Laminin G-like 2.					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)					TTTGGCAGGGAGGCTTCACAC	0.408000													11	186					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414311	73414311	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:73414311C>T	ENST00000286657.4	-	3	424	c.388G>A	c.(388-390)Gga>Aga	p.G130R	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	130					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTAGCACTTCCTGGTTGATGG	0.498000													5	215					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88170883	88170883	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:88170883G>A	ENST00000507897.1	+	12	1721	c.1638_splice	c.e12+1	p.L546_splice	C6ORF165_ENST00000369562.4_Splice_Site_p.L546_splice|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	546										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CTATAAAATTGGTTTGTAACA	0.289000													45	18					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679741	3679741	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3679741G>A	ENST00000294600.2	+	7	1108	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	342	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGACGAGGGCCTGGAAGG	0.672000													4	11					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470848	120470848	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:120470848C>T	ENST00000355622.6	+	2	202	c.101C>T	c.(100-102)cCt>cTt	p.P34L	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	34					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAGGTGGTTCCTAATATTACT	0.468000													37	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594622	179594622	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179594622C>T	ENST00000589042.1	-	63	18582	c.18358G>A	c.(18358-18360)Gga>Aga	p.G6120R	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5803R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4876R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5803	Ig-like 42.						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)			GTTGACTGTCCATTCCTCAGC	0.383000													14	30					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526505	61526505	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61526505G>A	ENST00000266070.4	-	9	2552	c.2227C>T	c.(2227-2229)Cgt>Tgt	p.R743C	DIDO1_ENST00000395335.2_Missense_Mutation_p.R743C|DIDO1_ENST00000395343.1_Missense_Mutation_p.R743C|DIDO1_ENST00000395340.1_Missense_Mutation_p.R743C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	743	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGCAGAACACGATGGAAGAGT	0.418000													110	227					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53131334	53131334	+	Silent	SNP	C	C	T	rs151203913		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:53131334C>T	ENST00000354452.3	-	4	791	c.180G>A	c.(178-180)ggG>ggA	p.G60G	TCF4_ENST00000567880.1_Silent_p.G60G|TCF4_ENST00000565018.2_Silent_p.G60G|TCF4_ENST00000564403.2_Silent_p.G60G|TCF4_ENST00000537578.1_Silent_p.G36G|TCF4_ENST00000568740.1_Silent_p.G36G|TCF4_ENST00000540999.1_Silent_p.G36G|TCF4_ENST00000356073.4_Silent_p.G60G|TCF4_ENST00000568673.1_Silent_p.G36G|TCF4_ENST00000564999.1_Silent_p.G60G|TCF4_ENST00000566279.1_Silent_p.G60G|TCF4_ENST00000543082.1_Silent_p.G18G|TCF4_ENST00000398339.1_Silent_p.G162G|TCF4_ENST00000566286.1_Silent_p.G58G|RP11-619L19.1_ENST00000587660.1_RNA	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	60	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTCCTCCATTCCCCCAGGACC	0.408000													62	171					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26872489	26872489	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26872489C>T	ENST00000531382.1	+	1	147	c.98C>T	c.(97-99)cCt>cTt	p.P33L	RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	26					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ACCTCTCTGCCTGTCCCTGGC	0.682000													10	21					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919960	51919960	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51919960C>T	ENST00000353836.5	-	3	887	c.666G>A	c.(664-666)aaG>aaA	p.K222K	SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Silent_p.K164K|SIGLEC10_ENST00000339313.5_Silent_p.K222K|SIGLEC10_ENST00000441969.3_Silent_p.K164K|SIGLEC10_ENST00000442846.3_Silent_p.K164K|SIGLEC10_ENST00000356298.5_Silent_p.K222K|SIGLEC10_ENST00000436984.2_Silent_p.K174K|SIGLEC10_ENST00000525998.1_Silent_p.K222K|CTD-2616J11.2_ENST00000532688.1_RNA	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	222	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGCTCACACCCTTTCTGGAGA	0.637000													9	47					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183906051	183906051	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183906051C>T	ENST00000429586.2	+	7	877	c.692C>T	c.(691-693)cCa>cTa	p.P231L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.P225L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	231	ABC transporter 1.			P -> S (in Ref. 1; BAC03881).			ATP binding|ATPase activity	p.P231Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCGGGTTCCAGCCCACATT	0.602000													62	115					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377607	6377607	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:6377607C>T	ENST00000335585.5	-	4	409	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.G129E|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.G112E|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.G122E|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.G122E	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	129					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGGTTGTATCCTTCGGGCCT	0.458000													76	184					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771443	157771443	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:157771443C>T	ENST00000502773.1	-	2	734	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PDGFC_ENST00000422544.2_Missense_Mutation_p.E82K|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	82	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CATACATTTTCCTCTACTGCT	0.368000													21	58					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998203	119998203	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119998203C>T	ENST00000341846.5	-	3	1396	c.975G>A	c.(973-975)aaG>aaA	p.K325K	TRIM29_ENST00000529044.1_Silent_p.K64K|TRIM29_ENST00000541857.1_Silent_p.K58K	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	325					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCACTTCCTCCTTTTGCTTCT	0.582000													50	61					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653873	30653873	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30653873G>A	ENST00000358107.4	-	2	308	c.309C>T	c.(307-309)ctC>ctT	p.L103L	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccccacAGAGGTGCTGCA	0.657000													10	18					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138755	30138755	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30138755A>C	ENST00000376694.4	+	6	1319	c.850A>C	c.(850-852)Aac>Cac	p.N284H	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	284	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCCCTCAGAAAACTTGGCGCA	0.438000													5	250					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378874	19378874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19378874C>T	ENST00000389363.4	-	7	704	c.632G>A	c.(631-633)gGa>gAa	p.G211E	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	211						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CTGCAGGAGTCCCTTTCTTTG	0.527000													11	45					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540176	28540176	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28540176C>T	ENST00000452236.2	-	4	4107	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1164					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttacctacttcattgataatt	0.279000													53	45					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449757	35449757	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35449757A>T	ENST00000404801.1	-	4	1388	c.1002T>A	c.(1000-1002)ggT>ggA	p.G334G	ZNF792_ENST00000605484.1_Silent_p.G267G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGGGCTTTCACCGGTGTGAA	0.473000													22	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059068	9059068	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9059068G>A	ENST00000397910.4	-	3	28581	c.28378C>T	c.(28378-28380)Cct>Tct	p.P9460S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9462	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGGACAGGAGAGGAGTGG	0.473000													47	110					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898456	23898456	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23898456C>T	ENST00000355349.3	-	13	1401	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	413	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATTCTGCCCCTTGGTGACGT	0.562000													54	152					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179314	87179314	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87179314G>A	ENST00000265724.3	-	14	1824	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	ABCB1_ENST00000543898.1_Silent_p.I405I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	469	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCACACCAATGATTTCCCGTA	0.398000													73	146					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046198	201046198	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201046198G>A	ENST00000362061.3	-	12	1903	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	CACNA1S_ENST00000367338.3_Silent_p.I559I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	559					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)	GCAGGGAGGCGATGGAGCGGA	0.567000													11	134					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382463	56382463	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56382463C>T	ENST00000355701.3	-	30	6373	c.5503G>A	c.(5503-5505)Ggc>Agc	p.G1835S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1835S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1775S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1835						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTCCAGGCCGCCTGCCTCA	0.627000													29	99					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28871932	28871932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28871932G>A	ENST00000377199.3	-	8	1813	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	486	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GATGATCAGAGGAGCTGCACT	0.522000			T	RET	papillary thyroid								42	219					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325393	57325393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57325393C>T	ENST00000326441.9	-	10	4780	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1347K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1349K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1473K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1473	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGGCTCTTCAGCTTTTCCC	0.507000													83	146					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75323564	75323564	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:75323564G>A	ENST00000556084.2	-	2	866	c.867C>T	c.(865-867)ctC>ctT	p.L289L	PROX2_ENST00000556489.2_Silent_p.L516L|PROX2_ENST00000445876.1_Silent_p.L516L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTGAATTGCGGAGAACCACCA	0.423000													18	144					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91667027	91667027	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91667027G>A	ENST00000375835.4	-	7	1193	c.887C>T	c.(886-888)tCc>tTc	p.S296F	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	296	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TTGTCCGATGGAGCCGATGAC	0.502000													15	60					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135308833	135308833	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:135308833G>A	ENST00000367837.5	-	9	1386	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	HBS1L_ENST00000527578.1_Missense_Mutation_p.R230C|HBS1L_ENST00000367824.4_Missense_Mutation_p.R230C|HBS1L_ENST00000445176.2_Missense_Mutation_p.R118C|HBS1L_ENST00000367826.2_Missense_Mutation_p.R352C|HBS1L_ENST00000415177.2_Missense_Mutation_p.R329C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	394					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCCAGAGAACGGACCAAGAGT	0.438000													37	91					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702337	179702337	+	Silent	SNP	C	C	T	rs113840365		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179702337C>T	ENST00000420890.2	-	23	3726	c.3609G>A	c.(3607-3609)ggG>ggA	p.G1203G	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.G628G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	628							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATATTCTTCCCCTGAGAGCA	0.562000													35	81					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73730953	73730953	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73730953C>T	ENST00000427855.1	+	21	2998	c.2896C>T	c.(2896-2898)Cac>Tac	p.H966Y	PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000554301.1_Missense_Mutation_p.H966Y|PAPLN_ENST00000340738.5_Missense_Mutation_p.H939Y|PAPLN_ENST00000381166.3_Missense_Mutation_p.H966Y|PAPLN_ENST00000555445.1_Missense_Mutation_p.H950Y			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	966	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCTGATCATCCACCCCCTGCA	0.632000													30	103					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466084	24466084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:24466084C>T	ENST00000382137.3	-	3	414	c.346G>A	c.(346-348)Gga>Aga	p.G116R	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G116R|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	116	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCAGTCTCTCCTCGGAGGCCT	0.602000													32	126					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3591761	3591761	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3591761C>T	ENST00000301749.7	-	0	3667				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCAGAAGTCGGCCTTTCTG	0.592000													4	2					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776062	14776062	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14776062C>T	ENST00000380881.4	-	26	5400	c.4585G>A	c.(4585-4587)Gac>Aac	p.D1529N	FREM1_ENST00000422223.2_Missense_Mutation_p.D1528N|FREM1_ENST00000380894.1_Missense_Mutation_p.D64N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1528N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1528					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAAGGAGGTCAGGGGAAAGC	0.607000													59	61					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525108	112525108	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:112525108C>T	ENST00000369697.1	-	1	310	c.241G>A	c.(241-243)Gag>Aag	p.E81K	KCND3_ENST00000315987.2_Missense_Mutation_p.E81K|KCND3_ENST00000302127.4_Missense_Mutation_p.E81K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	81						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAGAAGTACTCCTTGGTGTCC	0.622000													31	109					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32056701	32056701	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32056701C>T	ENST00000375244.3	-	6	2841	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	TNXB_ENST00000375247.2_Silent_p.Q880Q			P22105	TENX_HUMAN	tenascin XB	832					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						GCCTCACCCTCTGGTTGCCGG	0.627000													3	25					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285242	223285242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223285242G>A	ENST00000540964.1	-	4	1593	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.Q378*			O60602	TLR5_HUMAN	toll-like receptor 5	378					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTGAATGTTTGGTCTTGAATT	0.368000													58	89					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78063594	78063594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78063594C>T	ENST00000397545.4	+	17	2770	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q915*|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	915					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAAAAAATCCAACTGGCAAA	0.502000													25	133					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78872173	78872173	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:78872173G>A	ENST00000286627.5	-	7	1864	c.912C>T	c.(910-912)ctC>ctT	p.L304L	KCNMA1_ENST00000404857.1_Silent_p.L304L|KCNMA1_ENST00000286628.8_Silent_p.L304L|KCNMA1_ENST00000372440.1_Silent_p.L304L|KCNMA1_ENST00000372443.1_Silent_p.L304L|KCNMA1_ENST00000404771.3_Silent_p.L304L|KCNMA1_ENST00000354353.5_Silent_p.L304L|KCNMA1_ENST00000406533.3_Silent_p.L304L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	304					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAAATATGGAGAGCAGATTCA	0.517000													19	47					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992937	51992937	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51992937G>A	ENST00000461554.1	-	13	1123	c.792C>T	c.(790-792)atC>atT	p.I264I	PCBP4_ENST00000395013.3_Silent_p.I104I|PCBP4_ENST00000395014.2_Silent_p.I285I|PCBP4_ENST00000484633.1_Silent_p.I221I|PCBP4_ENST00000471622.1_Silent_p.I264I|PCBP4_ENST00000428823.2_Silent_p.I221I|PCBP4_ENST00000322099.7_Silent_p.I264I|PCBP4_ENST00000355852.2_Silent_p.I264I	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	264	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGATCTCGCTGATCTTGCTGC	0.617000													55	125					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109265133	109265133	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109265133G>A	ENST00000370017.3	+	5	1052	c.775G>A	c.(775-777)Gga>Aga	p.G259R	FNDC7_ENST00000271311.2_Missense_Mutation_p.G260R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	260	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCTCCAGTGTGGAACTGAATA	0.423000													29	54					0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31096236	31096236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31096236C>T	ENST00000280606.6	-	8	1297	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	382	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						AGGGCCATGTCGTAGCCCCCC	0.677000													4	7					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67298917	67298917	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:67298917G>A	ENST00000392676.3	-	8	1125	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S354L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S354L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	354					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCACACTAACGATTTGGGAAA	0.313000													30	75					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135011895	135011895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135011895C>T	ENST00000304613.3	+	13	1982	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	KNDC1_ENST00000368572.2_Missense_Mutation_p.P654L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P589L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	654					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGCCCGTGCCCGGCCAGCAC	0.697000													11	12					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324083	57324083	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57324083C>T	ENST00000293502.1	-	2	630	c.487G>A	c.(487-489)Ggt>Agt	p.G163S		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	163						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCCACACGACCACCAGAGCTG	0.542000													72	137					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985102	157985102	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157985102G>A	ENST00000389413.3	-	5	569	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P179S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P139S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P118S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P156S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	156						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCAGGAAGGGCAGGTGGCGT	0.662000													42	135					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607145	84607145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84607145C>T	ENST00000344803.2	+	4	1807	c.1760C>T	c.(1759-1761)cCa>cTa	p.P587L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTCAATCTCCATTCCGAGCC	0.522000													42	102					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353000													32	56					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62919818	62919818	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:62919818G>C	ENST00000393630.3	+	11	1727	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	MON2_ENST00000552738.1_Missense_Mutation_p.E446Q|MON2_ENST00000280379.6_Missense_Mutation_p.E446Q|MON2_ENST00000393632.2_Missense_Mutation_p.E446Q|MON2_ENST00000546600.1_Missense_Mutation_p.E446Q|MON2_ENST00000552115.1_Missense_Mutation_p.E446Q|MON2_ENST00000393629.2_Missense_Mutation_p.E446Q	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	446					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACCAGCATTTGAATATAGGGG	0.423000													45	122					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525891	39525891	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39525891G>A	ENST00000251646.3	-	1	161	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	38	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACATTGGCAGGGATGTTGCAG	0.647000													49	109					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13228185	13228185	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:13228185C>T	ENST00000378694.1	+	8	1195	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	MCM10_ENST00000378714.3_Missense_Mutation_p.P374S|MCM10_ENST00000484800.2_Missense_Mutation_p.P375S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	375					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TATCGATCATCCTCAGAAGGT	0.433000													21	194					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652013	15652013	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:15652013C>T	ENST00000262041.5	-	3	1323	c.914G>A	c.(913-915)tGa>tAa	p.*305*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	0					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)		CTGTTTATATCATAAGTGCGC	0.478000													30	72					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571958	166571958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:166571958G>A	ENST00000296946.2	-	9	1621	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	T_ENST00000366871.3_Missense_Mutation_p.P327S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	385					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGTGAGGGGTGTGTAGTGC	0.711000									Chordoma, Familial Clustering of				69	29					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655021	159655021	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:159655021G>A	ENST00000297267.9	+	11	3677	c.3477G>A	c.(3475-3477)tcG>tcA	p.S1159S	FNDC1_ENST00000340366.6_Silent_p.S1096S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1159						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGGGAAGTCGGAGCCTCCTT	0.716000													10	15					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739235	62739235	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62739235C>T	ENST00000371153.4	-	3	1919	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	514										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTGGTTCCTCCCTGAGGGCC	0.592000													5	116					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51513909	51513909	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:51513909G>A	ENST00000371117.3	-	62	11559	c.11284C>T	c.(11284-11286)Cca>Tca	p.P3762S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3762					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCAATTGTGGCTGCACTGGA	0.413000													146	116					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113220765	113220765	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113220765C>T	ENST00000401783.2	-	20	3898	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1165K|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1188K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1188					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCTGATTTCATGCCTCTTT	0.398000													11	18					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101014523	101014523	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101014523C>T	ENST00000360863.6	-	18	2891	c.2697G>A	c.(2695-2697)agG>agA	p.R899R	RGS22_ENST00000523287.1_Silent_p.R718R|RGS22_ENST00000523437.1_Silent_p.R887R	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	899	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATTTTGCCTTCCTTTGATTTC	0.348000													30	63					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44694062	44694062	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44694062C>T	ENST00000396056.2	+	3	441	c.206C>T	c.(205-207)tCc>tTc	p.S69F	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Intron|ZNF35_ENST00000296092.3_Intron|ZNF35_ENST00000399560.2_Intron|ZNF35_ENST00000453164.1_Intron	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	69	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAGAACATATCCTGGGATATG	0.478000													109	244					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156838548	156838548	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:156838548G>A	ENST00000536354.2	+	10	962	c.896_splice	c.e10-1	p.E300_splice		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	300					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TTCCTTTAGGGAAGAGCCTAG	0.418000													5	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479455	179479455	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179479455C>T	ENST00000589042.1	-	261	49010	c.48786G>A	c.(48784-48786)gtG>gtA	p.V16262V	TTN_ENST00000359218.5_Silent_p.V7322V|TTN_ENST00000591111.1_Silent_p.V14621V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V13694V|TTN_ENST00000460472.2_Silent_p.V7197V|TTN_ENST00000342175.6_Silent_p.V7389V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14621	Fibronectin type-III 18.						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)			CAAGGAGCTTCACATCGAGGA	0.423000													26	53					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065504	9065504	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9065504A>C	ENST00000397910.4	-	3	22145	c.21942T>G	c.(21940-21942)acT>acG	p.T7314T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7316	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGGGGGAAGTAGGGAACT	0.448000													7	68					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434168	101434168	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101434168C>T	ENST00000329841.5	+	6	1079	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	183					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GTGGAACTTCCCCCTGCTGAT	0.597000													6	216					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804230	27804230	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27804230C>T	ENST00000408964.2	+	1	4842	c.4791C>T	c.(4789-4791)aaC>aaT	p.N1597N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1597	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAGGAAAAACCATTCCAGTC	0.552000													62	140					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138703184	138703184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138703184C>T	ENST00000389532.4	-	17	4844	c.4780G>A	c.(4780-4782)Gtg>Atg	p.V1594M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1605M|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V1316M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1594	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTCTTTGGCACTGCAGGCCGC	0.557000													10	13					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363936	79363936	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79363936C>T	ENST00000444841.1	-	0	402																											TCATGGAGGCCAATCCAGACA	0.517000													11	27					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598411	31598411	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:31598411C>T	ENST00000379416.3	-	15	1485	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	479					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCCTCCTTCCAGAGCC	0.667000													26	38					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768717	121768717	+	Missense_Mutation	SNP	G	G	A	rs138386744	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:121768717G>A	ENST00000282561.3	+	2	881	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	242					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCGGGTTAAGGGAAAGAGCGA	0.488000													28	81					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704715	12704715	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12704715C>T	ENST00000376221.1	+	1	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	50						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTGCATATTCCTCTACCTGG	0.507000													59	173					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141768471	141768471	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141768471T>G	ENST00000475668.2	+	43	5083	c.5029T>G	c.(5029-5031)Ttc>Gtc	p.F1677V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1677	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGCATATTTCCCTAGAGC	0.418000													5	92					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78708945	78708945	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:78708945C>T	ENST00000286627.5	-	21	3442	c.2490G>A	c.(2488-2490)cgG>cgA	p.R830R	KCNMA1_ENST00000404857.1_Silent_p.R871R|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R888R|KCNMA1_ENST00000372440.1_Silent_p.R830R|KCNMA1_ENST00000372443.1_Silent_p.R830R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.R888R|KCNMA1_ENST00000354353.5_Silent_p.R891R|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.R892R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	888					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCTCCCATTCCCGCTTGAGGT	0.468000													5	259					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111463966	111463966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:111463966C>T	ENST00000265162.5	+	12	2209	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	623					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAACCCAGATCATATTGGGTT	0.378000													38	81					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497189	149497189	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149497189G>A	ENST00000261799.4	-	22	3598	c.3129C>T	c.(3127-3129)agC>agT	p.S1043S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1043					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTGGCTAGGCTGGGGGAAC	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								24	65					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540556	94540556	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94540556C>T	ENST00000289495.5	+	1	1347	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	PPP1R9A_ENST00000424654.1_Silent_p.S377S|PPP1R9A_ENST00000456331.2_Silent_p.S377S|PPP1R9A_ENST00000340694.4_Silent_p.S377S|PPP1R9A_ENST00000433360.1_Silent_p.S377S|PPP1R9A_ENST00000433881.1_Silent_p.S377S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	377						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTCTGCATCCAGTTGTGGAA	0.423000										HNSCC(28;0.073)			8	104					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519033	149519033	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149519033C>T	ENST00000378016.2	+	0	12837							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAACCCGGGCCTGCAGGGCCG	0.692000													4	17					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296479	10296479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10296479G>A	ENST00000403437.2	-	36	5309	c.5215C>T	c.(5215-5217)Caa>Taa	p.Q1739*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1739					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						CTTTGGAGTTGGGAAACGTCA	0.393000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				58	170					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075511	31075511	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31075511G>A	ENST00000538906.1	-	2	1054	c.270C>T	c.(268-270)ccC>ccT	p.P90P	ZNF668_ENST00000300849.4_Silent_p.P90P|ZNF668_ENST00000394983.2_Silent_p.P90P|ZNF668_ENST00000426488.2_Silent_p.P113P|ZNF668_ENST00000535577.1_Silent_p.P90P|ZNF668_ENST00000539836.3_Silent_p.P113P	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGTAGGCCTTGGGGCATAGCG	0.667000													23	73					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116693442	116693442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:116693442G>A	ENST00000357780.3	-	2	223	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TTGCTCAGCTGGCTGAAGTAG	0.572000													48	91					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39644532	39644532	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:39644532C>T	ENST00000265708.4	-	10	955	c.852G>A	c.(850-852)ggG>ggA	p.G284G	ADAM2_ENST00000521880.1_Silent_p.G284G|ADAM2_ENST00000347580.4_Silent_p.G265G|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	284	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CACACATCTTCCCTTGAAAGG	0.294000													27	73					0	0	1	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776029	27776029	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27776029G>A	ENST00000358739.3	+	1	131	c.42G>A	c.(40-42)aaG>aaA	p.K14K		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CTCGCGCCAAGGCCAAGACCC	0.572000													46	180					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767497	31767497	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:31767497G>A	ENST00000240587.4	-	2	3529	c.3202C>T	c.(3202-3204)Ccg>Tcg	p.P1068S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTCTTCCGGAGATTTCCCG	0.468000													30	66					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67665766	67665766	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:67665766C>T	ENST00000335894.4	+	10	1433	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	IQCH_ENST00000360277.4_Missense_Mutation_p.S208L|IQCH_ENST00000546225.1_Missense_Mutation_p.S204L|IQCH_ENST00000358767.3_Missense_Mutation_p.S283L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	456										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATATCCCATCATTAGGTATA	0.433000													32	62					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839813	44839813	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44839813G>A	ENST00000270162.6	-	9	1177	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	349					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGGGCATTCCGATACTCCTTG	0.607000													7	15					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74447573	74447573	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:74447573G>A	ENST00000307439.5	-	8	976	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	RASSF6_ENST00000342081.3_Missense_Mutation_p.P260S|RASSF6_ENST00000335049.5_Missense_Mutation_p.P216S|RASSF6_ENST00000395777.2_Missense_Mutation_p.P194S	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	260	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATCCTGGGGACTATTTTCA	0.373000													18	57					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37002781	37002781	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:37002781C>T	ENST00000282516.8	+	15	4181	c.3682C>T	c.(3682-3684)Cct>Tct	p.P1228S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1228S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1228					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATGAAATTCCTCAGGAACT	0.328000													28	84					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95126303	95126303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95126303G>A	ENST00000371501.4	-	26	2721	c.2599C>T	c.(2599-2601)Caa>Taa	p.Q867*	MYOF_ENST00000359263.4_Nonsense_Mutation_p.Q867*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.Q854*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.Q867*			Q9NZM1	MYOF_HUMAN	myoferlin	867					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGAGAGCTTGATTTTCATAC	0.338000													26	57					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216363	8216363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8216363C>T	ENST00000361926.3	+	3	835	c.725C>T	c.(724-726)tCc>tTc	p.S242F	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S242F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	242					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGTCGGGCCTCCCCGCTGCGG	0.692000													63	131					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61260125	61260125	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61260125C>T	ENST00000344731.5	+	5	494	c.392C>T	c.(391-393)tCt>tTt	p.S131F	SERPINB13_ENST00000269489.5_Missense_Mutation_p.S131F	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	131					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						TATCATGCATCTCTGGAACCT	0.333000													43	106					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016293	121016293	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:121016293G>A	ENST00000392793.1	+	12	3844	c.3573G>A	c.(3571-3573)ctG>ctA	p.L1191L	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.L1191L			O75443	TECTA_HUMAN	tectorin alpha	1191	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCTGCCCCTGAAGCTGGGGC	0.488000													146	123					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552569	140552569	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140552569C>T	ENST00000231137.3	+	1	327	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		51	Cadherin 1.				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)			TGGCAAAAGACCTAGGGTTAG	0.502000													30	89					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16065743	16065743	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16065743G>A	ENST00000294454.5	+	5	838	c.757G>A	c.(757-759)Gac>Aac	p.D253N	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	253					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTCACCGACTGCATGGT	0.657000													45	109					0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63638415	63638415	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:63638415G>A	ENST00000496807.1	+	1	42	c.40G>A	c.(40-42)Gat>Aat	p.D14N	SNTN_ENST00000343837.3_Missense_Mutation_p.D18N			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	18						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						CTTGGAAGGAGATCCCAATCC	0.478000													7	91					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299510	39299510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39299510C>T	ENST00000307751.4	-	3	690	c.213G>A	c.(211-213)tgG>tgA	p.W71*	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	71	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACCTTGTCCCAGCCGTCAA	0.592000													36	77					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379637	78379637	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:78379637G>A	ENST00000255192.3	+	7	1034	c.968G>A	c.(967-969)gGa>gAa	p.G323E	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.G259E	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	323					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCAGCTGGGGAAGTGGTTTG	0.433000													21	34					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72611908	72611908	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:72611908C>T	ENST00000273951.8	-	12	1753	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	GC_ENST00000504199.1_Silent_p.L489L|GC_ENST00000513476.1_Intron|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	470	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGATATTCTTCAATTCAGCAT	0.303000													37	89					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734510	141734510	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141734510C>T	ENST00000475668.2	+	16	1882	c.1828C>T	c.(1828-1830)Ctg>Ttg	p.L610L	MGAM_ENST00000549489.2_Silent_p.L610L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	610	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCTTCATTCTGACCCGTTC	0.517000													26	75					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554932	54554932	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54554932G>A	ENST00000566473.2	+	15	1866	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	ANKFN1_ENST00000318698.2_Silent_p.V622V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	622										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTAGCTCTGTGGATCAAATCA	0.388000													48	167					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369289	20369289	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20369289G>A	ENST00000593655.1	-	0	199																											ACGAAATTGGGATGACACGAA	0.378000													69	139					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629520	155629520	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155629520G>A	ENST00000368340.5	-	10	2643	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	YY1AP1_ENST00000407221.1_Silent_p.S696S|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.S716S|YY1AP1_ENST00000361831.5_Silent_p.S716S|YY1AP1_ENST00000347088.5_Silent_p.S727S|YY1AP1_ENST00000311573.5_Silent_p.S696S|YY1AP1_ENST00000368339.5_Silent_p.S865S|YY1AP1_ENST00000535662.1_Silent_p.S573S|YY1AP1_ENST00000404643.1_Silent_p.S707S|YY1AP1_ENST00000295566.4_Silent_p.S773S|YY1AP1_ENST00000355499.4_Silent_p.S727S|YY1AP1_ENST00000368330.2_Silent_p.S727S	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AATCCCCAGGGGAAGAGTTGT	0.502000													68	219					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084937	53084937	+	Missense_Mutation	SNP	C	C	T	rs147121734	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53084937C>T	ENST00000276480.7	-	10	1167	c.484G>A	c.(484-486)Gat>Aat	p.D162N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	162						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)				TCTGCTTCATCGCTCTCTGCT	0.388000													6	159					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569517	116569517	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:116569517C>T	ENST00000369503.4	+	5	732	c.602C>T	c.(601-603)tCg>tTg	p.S201L	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	201					ion transport	integral to membrane	transmembrane transporter activity	p.S201L(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATTAGGATCGATTGGCGGC	0.498000													75	180					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855932	100855932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100855932G>A	ENST00000223127.3	-	9	1282	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	295					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCCGGGGGGGAGGCTGGAA	0.647000													25	69					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641795	106641795	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106641795G>A	ENST00000390605.2	-	0	177																											AGCCTTGCAGGAGACCTTCAC	0.582000													83	171					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969254	22969254	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:22969254A>G	ENST00000356864.3	+	2	614	c.82A>G	c.(82-84)Act>Gct	p.T28A	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	28					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTCTGCCACCACTGCCCGGCA	0.577000													13	21					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805302	39805302	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39805302G>A	ENST00000248668.4	-	1	674	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	225						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGTCGGGCGGGAGTTTATGCA	0.667000													11	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179584073G>A	ENST00000589042.1	-	83	24268	c.24044C>T	c.(24043-24045)tCa>tTa	p.S8015L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7698	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(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)			CCAGCCAACTGAAATCGGGGC	0.502000													67	132					0	0	1	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632753	28632753	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:28632753G>A	ENST00000526619.2	+	14	1694	c.679G>A	c.(679-681)Gga>Aga	p.G227R	GOLGA8F_ENST00000450328.2_Missense_Mutation_p.G223R|GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.G441R																lung(4)	4						CCCAGGAGATGGAGGAGGACA	0.622000													11	52					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95229886	95229886	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:95229886C>T	ENST00000295256.5	-	4	325	c.235G>A	c.(235-237)Gga>Aga	p.G79R	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	79	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCTGTGTTTCCAGCCAAATCT	0.338000													37	90					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243530	119243530	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119243530G>A	ENST00000260187.2	-	2	955	c.661C>T	c.(661-663)Cct>Tct	p.P221S	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	221					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ATGATTTCAGGGACTCGTGAG	0.647000													44	40					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466426	164466426	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:164466426G>A	ENST00000333129.3	-	3	2230	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	639						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTCCGAAGGGATTCATCTAT	0.438000													46	122					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224628	3224628	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3224628C>T	ENST00000602557.1	-	21	3599	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1015E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1015E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1015E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1015	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTGAAGTTTCCAAACAGGCC	0.473000													17	22					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988375	26988375	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:26988375G>A	ENST00000231021.4	-	2	238	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTGTAATAGGATGGTGTCAA	0.388000													38	34					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643315	39643315	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39643315G>A	ENST00000393986.2	-	7	1157	c.945C>T	c.(943-945)atC>atT	p.I315I	KRT36_ENST00000328119.6_Silent_p.I365I			O76013	KRT36_HUMAN	keratin 36	365	Coil 2.|Rod.		T -> M (in dbSNP:rs2301354).			intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTCGCAGCGGATCTCAGACA	0.647000													74	150					0	0	1	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26942048	26942048	+	RNA	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26942048C>A	ENST00000544033.1	+	0	5708					NR_026794.1																						CCCGGCCCCCCAAGGCCCCAA	0.622000													3	5					6.4e-05	6.42126e-05	1	1	0
ANKRD29	147463	broad.mit.edu	37	18	21181243	21181243	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:21181243T>A	ENST00000592179.1	-	10	1007	c.853A>T	c.(853-855)Aat>Tat	p.N285Y	ANKRD29_ENST00000322980.9_Missense_Mutation_p.N252Y|ANKRD29_ENST00000284207.7_Missense_Mutation_p.N252Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	285										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATACGTTCATTTTTGGTTAGT	0.433000													33	60					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039386	248039386	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248039386G>A	ENST00000366481.3	+	6	1104	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	352	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGTTCTGGTGGGAGAAGGAG	0.577000													23	90					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845199	65845199	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65845199C>T	ENST00000395325.3	+	5	644	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.H220Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.H150Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	163	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTGTGTTGTCCACTGCTTGGT	0.448000													9	267					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742816	49742816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49742816G>A	ENST00000549441.2	+	3	1365	c.161G>A	c.(160-162)aGc>aAc	p.S54N	DNAJC22_ENST00000395069.3_Missense_Mutation_p.S54N			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	54					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AAGCTCCCAAGCTTTGTAGCT	0.632000													51	88					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14687203	14687203	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:14687203C>A	ENST00000437198.2	-	13	1014	c.873G>T	c.(871-873)ttG>ttT	p.L291F	PARN_ENST00000420015.2_Missense_Mutation_p.L245F|PARN_ENST00000341484.7_Missense_Mutation_p.L230F|PARN_ENST00000539279.1_Missense_Mutation_p.L116F	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	291					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GCATGACGTCCAAGAGCATAT	0.378000													17	30					1.40151e-16	1.414e-16	1	1	0
CCP110	9738	broad.mit.edu	37	16	19539266	19539266	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19539266C>T	ENST00000396212.2	+	3	499	c.63C>T	c.(61-63)tcC>tcT	p.S21S	CCP110_ENST00000396208.2_Silent_p.S21S|CCP110_ENST00000381396.5_Silent_p.S21S	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	21	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATCACTATCCACAGAGAGCT	0.398000													35	57					0	0	1	0	0
CCDC17	149483	broad.mit.edu	37	1	46086106	46086106	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46086106C>T	ENST00000421127.2	-	13	1827		c.e13-1		CCDC17_ENST00000343901.2_Splice_Site|CCDC17_ENST00000445048.2_Splice_Site|CCDC17_ENST00000528266.1_Splice_Site	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17											kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TGCTGGACACCTGTGGAACAG	0.507000													6	13					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118474	58118474	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58118474C>T	ENST00000332854.6	+	3	1801	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAATCCTATAGCCAAA	0.448000													39	77					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838548	86838548	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:86838548T>C	ENST00000441037.2	+	16	2240	c.2145T>C	c.(2143-2145)gtT>gtC	p.V715V	AGBL1_ENST00000389298.3_Silent_p.V446V|AGBL1_ENST00000421325.2_Silent_p.V715V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	715					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGCAAGATGTTCTCTGCCAGA	0.488000													34	53					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110489944	110489944	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:110489944A>G	ENST00000324068.1	-	13	1954	c.1787T>C	c.(1786-1788)gTt>gCt	p.V596A	CAPN6_ENST00000541758.1_Missense_Mutation_p.V341A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	596	C2.				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						ATCCAGAGTAACCTGCCCCAA	0.522000													42	18					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87125970	87125970	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:87125970G>A	ENST00000285393.3	+	2	305	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	55					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TACTGATTATGGTAACTTTTT	0.333000													87	131					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100480333	100480333	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100480333C>T	ENST00000273962.3	-	2	475	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TRMT10A_ENST00000394877.3_Missense_Mutation_p.E55K|TRMT10A_ENST00000394876.2_Missense_Mutation_p.E55K	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		CGTTGCTCTTCCCATTGTTTC	0.378000													42	140					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703063	77703063	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77703063G>A	ENST00000298351.4	+	9	783	c.639G>A	c.(637-639)agG>agA	p.R213R		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	213						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTGCACCCAGGAATAGCCAAA	0.552000													29	91					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423814	35423814	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35423814C>T	ENST00000229769.2	+	2	724	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	180	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGGTTGAAATCCCCCCAGGCT	0.602000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	54					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131464	45131464	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:45131464G>A	ENST00000575173.1	-	0	418																											AGATACGTGGGAAACGGCTGC	0.478000													24	35					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203682	140203682	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140203682C>T	ENST00000529859.1	+	1	2322	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	PCDHA5_ENST00000378126.3_Silent_p.S774S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S774S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTCCAAGCCTTCCTCAGG	0.512000													34	49					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20444412	20444412	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20444412C>T	ENST00000222573.3	+	11	2533	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	ITGB8_ENST00000537992.1_Missense_Mutation_p.P482S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	617	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTGCACCGATCCCAGGAGCAT	0.522000													25	66					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189438	100189438	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100189438C>T	ENST00000241071.6	+	4	793	c.471C>T	c.(469-471)ttC>ttT	p.F157F	FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.F195F|FBXO24_ENST00000360609.2_Silent_p.F143F|FBXO24_ENST00000468962.1_Silent_p.F145F|FBXO24_ENST00000465843.1_Silent_p.F143F	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	157						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTCTTCTTCCTCAAAAATG	0.577000													75	183					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46488886	46488886	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46488886C>T	ENST00000231751.4	-	10	1511	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	LTF_ENST00000426532.2_Missense_Mutation_p.G362R|LTF_ENST00000417439.1_Missense_Mutation_p.G404R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	406	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCAGCTTCTCCTTTCTGCAAA	0.493000													42	132					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197460	71197460	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:71197460C>T	ENST00000554752.2	-	12	2951	c.2952G>A	c.(2950-2952)gaG>gaA	p.E984E	MAP3K9_ENST00000555993.2_Silent_p.E998E|MAP3K9_ENST00000553414.1_Silent_p.E717E|MAP3K9_ENST00000381250.4_Silent_p.E961E|MAP3K9_ENST00000554146.1_Silent_p.E712E			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	984					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)		TCTTGGGTCTCTCCAAGGTAG	0.632000													30	62					0	0	1	0	0
NINJ1	4814	broad.mit.edu	37	9	95888692	95888692	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95888692C>T	ENST00000375446.4	-	2	374	c.304_splice	c.e2+1	p.V102_splice		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	102					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						GGGGACCTACCAAGGAAGATG	0.637000													23	41					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9781628	9781628	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:9781628C>T	ENST00000536656.1	+	15	2218	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	PIK3CD_ENST00000361110.2_Silent_p.F670F|PIK3CD_ENST00000543390.1_Silent_p.F313F|PIK3CD_ENST00000377346.4_Silent_p.F646F			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	646					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCGGCCACTTCCTTTTCTGGC	0.627000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	77					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49034722	49034722	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:49034722G>A	ENST00000226432.4	+	12	1831	c.1648G>A	c.(1648-1650)Ggg>Agg	p.G550R	CWH43_ENST00000513409.1_Missense_Mutation_p.G523R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	550					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GACACACTTTGGGAACCACGA	0.443000													59	80					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175324680	175324680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:175324680C>T	ENST00000392552.2	-	10	1935	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	GPR155_ENST00000392551.2_Missense_Mutation_p.G566E|GPR155_ENST00000295500.4_Missense_Mutation_p.G566E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	566					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AGCAGTATTTCCAGGCTCCAC	0.418000													9	134					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101108941	101108941	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:101108941G>A	ENST00000273990.2	-	3	689	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	159					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GAGGAGAAGCGACCTCTACTA	0.428000													40	66					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471609	65471609	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:65471609G>A	ENST00000286574.4	-	3	688	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	105	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGAGCGCAAGGACAGGAATTC	0.502000			T	HMGA2	pleomorphic salivary gland adenoma								8	35					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43726845	43726845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43726845C>T	ENST00000306117.1	-	4	964	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	KCNS1_ENST00000537075.1_Missense_Mutation_p.E190K	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	190						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGCGCCAGTTCTCGCTGCACG	0.716000													5	24					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59908118	59908118	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:59908118G>A	ENST00000468189.1	-	8	672	c.302C>T	c.(301-303)cCc>cTc	p.P101L	FHIT_ENST00000476844.1_Missense_Mutation_p.P101L|FHIT_ENST00000492590.1_Missense_Mutation_p.P101L|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Missense_Mutation_p.P101L			P49789	FHIT_HUMAN	fragile histidine triad	101	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AGCCTTCCTGGGAAGAACATG	0.433000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				32	50					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263188	55263188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55263188G>A	ENST00000342376.3	+	6	834	c.803G>A	c.(802-804)tGg>tAg	p.W268*	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		cttcATCGCTGGTGCTGCAAC	0.527000													43	83					0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	46993504	46993504	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:46993504C>T	ENST00000360943.5	+	4	780	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	215					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										CTATCCAGTCCCTGATGACTG	0.527000													23	52					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805017	54805017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:54805017G>A	ENST00000306858.7	+	5	1364	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	416										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGGTAATTGGAAAAAGCCAT	0.488000													5	120					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111537	75111537	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75111537C>T	ENST00000309664.5	+	6	781	c.642C>T	c.(640-642)ttC>ttT	p.F214F	LMAN1L_ENST00000379709.3_Silent_p.F214F	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	214	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGTGAGTTCTGTGTGGATG	0.597000													55	117					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168107877C>T	ENST00000409195.1	+	9	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000													47	103					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385653	50385653	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50385653C>T	ENST00000221543.5	+	7	1093	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TBC1D17_ENST00000535102.2_Missense_Mutation_p.S232F	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	265						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAGGTCATTTCCTGTGTGAGT	0.592000													48	99					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134017392	134017392	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134017392C>T	ENST00000338492.4	+	13	1752	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	DPYSL4_ENST00000368627.1_Missense_Mutation_p.P370S|DPYSL4_ENST00000368629.1_Missense_Mutation_p.P370S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	530					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTCCGTCCCTCCTGTGCGCAA	0.672000													11	164					0	0	1	0	0
TXNDC8	255220	broad.mit.edu	37	9	113088478	113088478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113088478G>A	ENST00000374507.4	-	3	222	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	TXNDC8_ENST00000374510.4_Nonsense_Mutation_p.Q78*|TXNDC8_ENST00000423740.2_Nonsense_Mutation_p.Q58*|TXNDC8_ENST00000374511.3_Nonsense_Mutation_p.Q78*			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	78	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGAACATCTGAAATGTGGGT	0.433000													86	186					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473568	19473568	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:19473568C>T	ENST00000507958.1	-	15	3130	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	CDH18_ENST00000274170.4_Missense_Mutation_p.E714K|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E714K			Q13634	CAD18_HUMAN	cadherin 18, type 2	714					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAATAAATTCCTGAACATCT	0.493000													31	66					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337224	144337224	+	Missense_Mutation	SNP	G	G	A	rs143004346	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:144337224G>A	ENST00000370493.3	+	2	868	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	37								p.E37K(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCCCCGAACCGAGTTT	0.403000													44	24					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3216933	3216933	+	Missense_Mutation	SNP	C	C	T	rs78564552	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:3216933C>T	ENST00000231948.4	-	2	110	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	CRBN_ENST00000432408.2_Missense_Mutation_p.E29K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	30					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACTTCCATTTCATCTTCTTCC	0.323000													53	112					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108911467	108911467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:108911467C>T	ENST00000340800.2	-	12	1805	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E	ACSL4_ENST00000469796.2_Missense_Mutation_p.G434E|ACSL4_ENST00000348502.6_Missense_Mutation_p.G393E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	434					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCGGACATTCCCTCCCAGCAG	0.458000													48	15					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151853113	151853113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151853113G>A	ENST00000355193.2	-	47	12231	c.12013C>T	c.(12013-12015)Cag>Tag	p.Q4005*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3948*					lysine (K)-specific methyltransferase 2C																		AAGGGCAGCTGAAATGGTTTA	0.453000													42	121					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029127	68029127	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:68029127G>A	ENST00000329153.5	+	7	911	c.779G>A	c.(778-780)gGa>gAa	p.G260E		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	260						cytoskeleton	binding	p.G299V(1)|p.G260V(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCTCATCTGGGAAGAGAGAGC	0.542000													30	68					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729278	35729278	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:35729278G>A	ENST00000187397.4	+	6	765	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ARPP21_ENST00000458225.1_Silent_p.E103E|ARPP21_ENST00000444190.1_Silent_p.E103E|ARPP21_ENST00000417925.1_Silent_p.E103E|ARPP21_ENST00000337271.5_Silent_p.E103E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	103						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCAAGAGGAGGATAAATCTA	0.348000													16	165					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945207	151945207	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151945207G>A	ENST00000355193.2	-	14	2530	c.2312C>T	c.(2311-2313)tCa>tTa	p.S771L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S771L					lysine (K)-specific methyltransferase 2C																		TGCTGATGATGAAAATGATGA	0.423000													7	316					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200614	101200614	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101200614C>T	ENST00000341267.4	+	5	775	c.533C>T	c.(532-534)cCa>cTa	p.P178L	DLK1_ENST00000331224.6_Missense_Mutation_p.P178L	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	178	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				ACCCCCAACCCATGCGAGAAC	0.657000													6	161					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142419	5142419	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5142419G>A	ENST00000498233.1	-	0	979																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGATAACAGATCGCTACAC	0.478000													28	20					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204401418	204401418	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:204401418G>T	ENST00000367187.3	-	28	4621	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.A1327A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1355					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGTTCGGGAGGCAAAGGAGA	0.507000													77	99					1.45978e-39	1.47772e-39	1	1	0
PPP4R1	9989	broad.mit.edu	37	18	9557371	9557371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:9557371G>A	ENST00000400556.3	-	15	2111	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R663*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	680					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AGAGTTCGTCGAACTTTCCAC	0.358000													63	155					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317552	1317552	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:1317552G>A	ENST00000381567.3	-	5	512	c.513C>T	c.(511-513)acC>acT	p.T171T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	171	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGCCTTCTATGGTGACGTTGC	0.478000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								38	25					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649676	142649676	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142649676G>A	ENST00000355265.2	-	10	1597	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	375					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGGCTGGAGAAAGGGTC	0.552000													5	118					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074907	54074907	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54074907G>T	ENST00000253144.9	+	6	1392	c.59G>T	c.(58-60)tGg>tTg	p.W20L	ZNF331_ENST00000513999.1_Missense_Mutation_p.W20L|ZNF331_ENST00000513265.1_Missense_Mutation_p.W20L|ZNF331_ENST00000511593.2_Missense_Mutation_p.W20L|ZNF331_ENST00000511154.1_Missense_Mutation_p.W20L|ZNF331_ENST00000411977.2_Missense_Mutation_p.W20L|ZNF331_ENST00000449416.1_Missense_Mutation_p.W20L|ZNF331_ENST00000512387.1_Missense_Mutation_p.W20L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAGGAGGAGTGGGCCTGTCTG	0.512000			T	?	follicular thyroid adenoma								140	259					2.40396e-54	2.43498e-54	1	1	0
CHRNA2	1135	broad.mit.edu	37	8	27319168	27319168	+	Missense_Mutation	SNP	G	G	A	rs145238683		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:27319168G>A	ENST00000407991.1	-	7	2176	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	CHRNA2_ENST00000240132.2_Missense_Mutation_p.P508L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.P523L	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	523						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGCTAGGAACGGAGGCAGAAA	0.567000													70	94					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179201082	179201082	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179201082C>T	ENST00000190611.4	+	9	1088	c.712C>T	c.(712-714)Cct>Tct	p.P238S	OSBPL6_ENST00000409045.3_Missense_Mutation_p.P238S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P238S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P217S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P238S|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P238S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P238S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	238					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAATAGCCTCCCTGCAACGTG	0.493000													104	222					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261425	131261425	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:131261425G>A	ENST00000512055.1	-	19	3641	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	CPNE4_ENST00000512332.1_Silent_p.F523F|CPNE4_ENST00000511604.1_Silent_p.F505F|CPNE4_ENST00000502818.1_Silent_p.F523F|CPNE4_ENST00000429747.1_Silent_p.F505F			Q96A23	CPNE4_HUMAN	copine IV	505	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGAAGGGCACGAACTGGACGA	0.507000													4	95					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110534478	110534478	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110534478G>A	ENST00000378402.5	+	74	12199	c.12095G>A	c.(12094-12096)gGa>gAa	p.G4032E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4032					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GTAATTTTAGGAAACATCAGT	0.393000										HNSCC(38;0.096)			19	48					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7244215	7244215	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7244215G>A	ENST00000542285.1	-	2	210	c.61C>T	c.(61-63)Cct>Tct	p.P21S				P00736	C1R_HUMAN	complement component 1, r subcomponent	22	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTTCTGAGGGATGGGAATG	0.547000													4	9					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795449	141795449	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141795449C>T	ENST00000475668.2	+	64	7597	c.7543C>T	c.(7543-7545)Ctg>Ttg	p.L2515L	MGAM_ENST00000549489.2_Silent_p.L1619L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1619					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGCCATATCTGTATACCTT	0.502000													8	364					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9956216	9956216	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9956216G>A	ENST00000454190.2	+	14	1439	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000421412.1_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0						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)		AGGGGTGGGGGGCTCTGTGCC	0.617000													45	178					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23928065	23928065	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:23928065T>C	ENST00000402377.3	-	4	428	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q27R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTCACTTTTTGGAAAGAATC	0.328000													11	24					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86050467	86050467	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:86050467A>G	ENST00000414626.2	+	15	3520	c.2631A>G	c.(2629-2631)agA>agG	p.R877R	LRRCC1_ENST00000360375.3_Silent_p.R897R			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	897					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAGAAATCAGAAAAGCTTACA	0.299000													24	32					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11522984	11522984	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11522984G>A	ENST00000262442.3	+	6	1304	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.R412R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	412	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGACAGAAGGGAGAATCTCC	0.458000													67	152					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264557	65264557	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65264557C>T	ENST00000389722.3	-	9	1125	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	SPTB_ENST00000556626.1_Missense_Mutation_p.E358K|SPTB_ENST00000389720.3_Missense_Mutation_p.E358K|SPTB_ENST00000389721.5_Missense_Mutation_p.E358K|SPTB_ENST00000542895.1_Missense_Mutation_p.E358K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	358					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCCCCTTCTCTTGAAACCTG	0.433000													5	143					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140243569	140243569	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140243569G>A	ENST00000340951.4	-	16	2018	c.1823C>T	c.(1822-1824)cCc>cTc	p.P608L	EXD3_ENST00000342129.4_Missense_Mutation_p.P288L	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	608					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						CACCTGCCTGGGTGCGGCCGG	0.647000													4	26					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20786656	20786656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20786656C>T	ENST00000359062.3	+	7	1830	c.1790C>T	c.(1789-1791)cCt>cTt	p.P597L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	597					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAAGGGAATCCTGCTGATGAG	0.448000													13	33					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58954797	58954797	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58954797C>T	ENST00000423743.3	+	24	3623	c.3365C>T	c.(3364-3366)tCa>tTa	p.S1122L	KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1151L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1219L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1090L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1090										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACCCTAACTCACCTCAAGAA	0.398000													5	14					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6948525	6948525	+	Missense_Mutation	SNP	C	C	T	rs137948858	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:6948525C>T	ENST00000389658.3	-	60	8680	c.8587G>A	c.(8587-8589)Gat>Aat	p.D2863N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2863	Laminin G-like 4.				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)	ACCGTCACATCCCCAATGCAG	0.512000													33	37					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078546	107078546	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107078546G>A	ENST00000390628.2	-	0	238																											CGTTGTCCACGAGCCTGTCGC	0.532000													51	109					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101824568	101824568	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101824568C>T	ENST00000375001.3	+	38	3996	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1191	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCCTCCACCCCCTGCGCTTT	0.458000													40	88					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75608304	75608304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75608304G>A	ENST00000423381.1	-	8	704	c.581C>T	c.(580-582)cCt>cTt	p.P194L	CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P194L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P194L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P194L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000472912.1_5'UTR	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	194	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GATATCCACAGGTTTTCCATA	0.522000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102684140	102684140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102684140C>T	ENST00000238961.3	+	5	1530	c.1382C>T	c.(1381-1383)aCc>aTc	p.T461I	FAM178A_ENST00000370269.3_Missense_Mutation_p.T461I|FAM178A_ENST00000370271.3_Missense_Mutation_p.T461I	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	461																	AAAAATAAAACCGCTAGCTCC	0.413000													6	217					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074713	76074713	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76074713G>A	ENST00000395215.3	+	0	785																											AGAGGATGTGGAAAATGTCGG	0.488000													32	82					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344543	20344543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20344543G>A	ENST00000298642.2	+	1	153	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCAACAATGGTGGGTAACA	0.403000													84	215					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537625	15537625	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:15537625G>A	ENST00000344577.2	-	6	908	c.883C>T	c.(883-885)Cct>Tct	p.P295S	LIPI_ENST00000536861.1_Missense_Mutation_p.P274S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	274					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAACGACAAGGAAATGAAATA	0.353000													50	59					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358768	178358768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:178358768C>T	ENST00000361362.2	+	5	984	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	ZFP2_ENST00000503510.2_Missense_Mutation_p.H152Y|ZFP2_ENST00000520301.1_Missense_Mutation_p.H152Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H152Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAAAGAATTCATACTGGAGA	0.413000													32	61					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91396268	91396268	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:91396268G>A	ENST00000261172.3	-	2	167	c.75C>T	c.(73-75)tcC>tcT	p.S25S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	25					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CATAGTTGATGGACTCTAGAG	0.383000													13	118					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069172	150069172	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150069172C>T	ENST00000397281.2	+	4	1331	c.842C>T	c.(841-843)tCg>tTg	p.S281L	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.S338L|REPIN1_ENST00000444957.1_Missense_Mutation_p.S281L|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000425389.2_Missense_Mutation_p.S281L|REPIN1_ENST00000540729.1_Missense_Mutation_p.S281L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	281					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TATCTGACTTCGCACCGGCGC	0.637000													44	77					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542837	28542837	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28542837C>T	ENST00000452236.2	-	3	2262	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	549					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGATCTAATTCATTTTCTGTA	0.393000													50	138					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323212	29323212	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29323212C>T	ENST00000377154.1	-	4	1060	c.761G>A	c.(760-762)aGc>aAc	p.S254N	OR5V1_ENST00000543825.1_Missense_Mutation_p.S254N			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGATGGCGCTGCCATAAAA	0.453000													42	121					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124396763	124396763	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124396763C>T	ENST00000338354.3	+	51	6596	c.6490C>T	c.(6490-6492)Ccc>Tcc	p.P2164S	DMBT1_ENST00000368955.3_Missense_Mutation_p.P2154S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2154S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P884S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P2164S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1536S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1536S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2164	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGAGTGTCGGCCCCAGATAAC	0.532000													12	39					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126330	19126330	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19126330C>T	ENST00000381440.3	+	1	1077	c.547C>T	c.(547-549)Ccg>Tcg	p.P183S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	183						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTGCGCCTCCCGCCGCTTGT	0.692000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	35					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773491	91773491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:91773491C>T	ENST00000389857.6	-	18	3172	c.3086G>A	c.(3085-3087)gGg>gAg	p.G1029E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1029					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCTGTCTTCCCCGCAGGGTG	0.602000													19	54					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772113	143772113	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143772113G>A	ENST00000408898.2	+	1	839	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGAGCCCCAAGGAGCAGAAGA	0.463000													21	479					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254361	155254361	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155254361C>T	ENST00000368358.3	+	4	910	c.902C>T	c.(901-903)gCc>gTc	p.A301V	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	301						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATTCCCATGCCCTGTTCAAG	0.597000													39	111					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161123797	161123797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161123797G>A	ENST00000368003.5	+	1	256	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	4					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATGGCGGATGAAGCCACGCG	0.557000													37	106					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995094	183995094	+	Silent	SNP	C	C	T	rs144755388		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183995094C>T	ENST00000402825.3	+	4	672	c.672C>T	c.(670-672)atC>atT	p.I224I	ECE2_ENST00000359140.4_Silent_p.I77I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.I106I|ECE2_ENST00000357474.5_Silent_p.I152I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	224	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.I77I(1)|p.I224I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGAAAAATCCTGGAGTCCC	0.602000													13	130					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859813	189859813	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189859813C>T	ENST00000304636.3	+	21	1667	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	COL3A1_ENST00000317840.5_Silent_p.I499I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	499	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)	CAAATGGCATCCCAGGAGAAA	0.383000													35	68					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149821	153149821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:153149821C>T	ENST00000285900.5	+	13	2459	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	GRIA1_ENST00000521843.2_Nonsense_Mutation_p.R637*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.R716*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.R716*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.R706*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.R626*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	706					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGGATGATTCGAGTGAGGAA	0.488000													5	115					0	0	1	0	0
SPTSSB	165679	broad.mit.edu	37	3	161064020	161064020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:161064020C>T	ENST00000359175.4	-	3	1662	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SPTSSB_ENST00000497137.1_Missense_Mutation_p.R31Q	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	31					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										AAACATAGATCGCTCCCAGGG	0.428000													37	56					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110663	132110663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:132110663G>A	ENST00000404460.1	+	7	548	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R165Q			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTCCCAACGCGATGTTTTTTT	0.448000													20	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584369	82584369	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82584369C>T	ENST00000423517.2	-	5	6237	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1967E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1898					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						ATCTACCGATCCATTGTACGT	0.368000													63	199					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718098	94718098	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94718098G>A	ENST00000304338.3	+	16	1884	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	577						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGGGCCAAGGAAAAAGTTAC	0.274000													25	79					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720403	116720403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:116720403C>T	ENST00000537543.1	+	2	124	c.47C>T	c.(46-48)tCt>tTt	p.S16F	DSE_ENST00000452085.3_5'UTR|DSE_ENST00000331677.3_5'UTR|DSE_ENST00000359564.2_5'UTR|DSE_ENST00000540275.1_Silent_p.I189I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATTTGGAGATCTGATGCCACG	0.478000													37	84					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703373	55703373	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55703373C>T	ENST00000301532.3	-	1	503	c.504G>A	c.(502-504)ctG>ctA	p.L168L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACAATATTTCAGAATAAAGG	0.418000													35	44					0	0	1	0	0
IFI27L1	122509	broad.mit.edu	37	14	94563282	94563282	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94563282C>T	ENST00000553664.1	+	3	191	c.66C>T	c.(64-66)aaC>aaT	p.N22N	IFI27L1_ENST00000554562.1_5'UTR|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000555523.1_5'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000554544.1_5'UTR			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane				lung(2)	2						AAGGGGCCAACCATGGGAAAG	0.522000													14	27					0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128440938	128440938	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:128440938C>T	ENST00000173527.5	+	3	506	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	164						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCCTAAAGGTCTTGGGAGCAC	0.373000													41	75					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497986	20497986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20497986G>A	ENST00000573854.1	+	14	1834	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	ACSM2A_ENST00000219054.6_Missense_Mutation_p.A574T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A574T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A495T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A346T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A574T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	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													6	291					0	0	1	0	0
ZNF879	345462	broad.mit.edu	37	5	178460213	178460213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:178460213C>T	ENST00000444149.2	+	5	1452	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						TCAAAGAATTCACACTGGAGA	0.408000													6	14					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690307	177690307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:177690307C>T	ENST00000390654.3	-	9	898	c.541G>A	c.(541-543)Gga>Aga	p.G181R	COL23A1_ENST00000407622.1_Missense_Mutation_p.G145R	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	181	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCAGCAGCTCCATCTTGTCCT	0.687000													11	37					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29245071	29245071	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29245071G>A	ENST00000379558.4	+	11	1759	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.E415K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	470							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAATGGGAAGAAGAGGAGGA	0.547000													43	86					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612926	196612926	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:196612926C>T	ENST00000323460.5	+	2	1123	c.874C>T	c.(874-876)Cct>Tct	p.P292S	SENP5_ENST00000445299.2_Missense_Mutation_p.P292S|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	292					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAGCCCATTTCCTTCCCCAGA	0.542000													44	106					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551359	248551359	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			GCTCTTGGTTCGGTGGGGCTT	0.557000													42	33					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53670485	53670485	+	Silent	SNP	G	G	A	rs147987096		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53670485G>A	ENST00000257934.4	+	8	1873	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	ESPL1_ENST00000552462.1_Silent_p.A594A	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	594					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTACAAGGCGGTGCGGGCCG	0.667000													18	47					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090690	52090690	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52090690G>A	ENST00000262259.2	+	5	1464	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	369					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATGACTGTGGAAAAGCCTTT	0.408000													56	123					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2341035	2341035	+	RNA	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2341035C>G	ENST00000452401.2	+	0	1033				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCGGGCCCCGGCGGGCA	0.721000													8	22					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835843	4835843	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:4835843C>T	ENST00000252318.2	+	2	694	c.357C>T	c.(355-357)ttC>ttT	p.F119F	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	119						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGAAACTCTTCCCACACTCAC	0.512000													18	40					0	0	1	0	0
LSMD1	84316	broad.mit.edu	37	17	7760487	7760487	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7760487C>T	ENST00000333775.5	-	1	685	c.255G>A	c.(253-255)gcG>gcA	p.A85A	LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000576861.1_Silent_p.A11A|LSMD1_ENST00000575208.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000335155.5_Silent_p.A37A	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	37						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CGCGCTCAGCCGCCGAGTCCT	0.672000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	173					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471392	47471392	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:47471392C>T	ENST00000266581.4	-	2	1860	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K	AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465K|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	465					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAACACCACTCTTTTACCTGC	0.522000													17	38					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10588444	10588444	+	Missense_Mutation	SNP	G	G	A	rs111237999		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10588444G>A	ENST00000381902.2	-	1	148	c.142C>T	c.(142-144)Cct>Tct	p.P48S	NKG2-E_ENST00000539033.1_Missense_Mutation_p.P48S|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48S	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	48					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTCAGGGAAGGATTTTGAAGA	0.363000													67	161					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39024250	39024250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39024250G>A	ENST00000373256.4	+	2	199	c.156G>A	c.(154-156)gaG>gaA	p.E52E		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	52					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCCTGACTGAGGATCCACCTC	0.582000													45	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444428	179444428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179444428C>T	ENST00000589042.1	-	319	67720	c.67496G>A	c.(67495-67497)cGa>cAa	p.R22499Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13559Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20858Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19931Q|TTN_ENST00000460472.2_Missense_Mutation_p.R13434Q|TTN_ENST00000342175.6_Missense_Mutation_p.R13626Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20858	Fibronectin type-III 63.						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)			TTTCATAACTCGTTGCCACTT	0.408000													39	81					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160104352	160104352	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160104352G>A	ENST00000361216.3	+	14	1995	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.E636K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	636					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAGGGTAACGAGACTGTGGA	0.557000													34	110					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524035	24524035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:24524035C>T	ENST00000376862.3	+	2	935	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	101					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTGCTGCGCTCCTGGGGGGAC	0.637000													44	109					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809258	23809258	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23809258G>A	ENST00000354639.3	+	13	1991		c.e13-1		STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000355870.3_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGCAAATGAGGTTTTTGACC	0.373000													35	118					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46871963	46871963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46871963C>T	ENST00000447340.1	-	3	348	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	PRSS42_ENST00000429665.1_Silent_p.L271L			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	0	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						ATTCACAGGCCAAGCGGCCCC	0.478000													8	12					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427266	135427266	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135427266C>T	ENST00000394143.1	+	6	1692	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GPR112_ENST00000412101.1_Silent_p.F262F|GPR112_ENST00000287534.4_Silent_p.F404F|GPR112_ENST00000394141.1_Silent_p.F262F|GPR112_ENST00000370652.1_Silent_p.F467F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	467					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATCATCATTCCCACCTGAGC	0.458000													44	21					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127292608	127292608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:127292608G>A	ENST00000355552.3	-	11	1254	c.878C>T	c.(877-879)tCc>tTc	p.S293F	TPRA1_ENST00000296210.7_Silent_p.L238L|TPRA1_ENST00000489960.1_Missense_Mutation_p.S293F|TPRA1_ENST00000450633.2_Missense_Mutation_p.S293F	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	293					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCATTTGTAGGAGAAGAGGAT	0.597000													32	47					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028248	119028248	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:119028248G>A	ENST00000534838.1	+	0	157				PAPPA_ENST00000328252.3_Missense_Mutation_p.D949N			Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGGCGATGGCATTAT	0.438000													24	48					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904655	88904655	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88904655C>T	ENST00000556553.1	+	12	2152	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Silent_p.P531P|SPATA7_ENST00000393545.4_Silent_p.P563P			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	563					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						ACACATCACCCTCCCAATCTG	0.403000													31	66					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163539	54163539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:54163539G>A	ENST00000265572.3	-	2	356	c.59C>T	c.(58-60)gCc>gTc	p.A20V	OPRK1_ENST00000520287.1_Missense_Mutation_p.A20V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	20					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGGCAGGCAGGCGCTCGGGGC	0.736000													8	22					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765869	181765869	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:181765869C>T	ENST00000526775.1	+	45	6253	c.6088C>T	c.(6088-6090)Ctt>Ttt	p.L2030F	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2049F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1981F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1656F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2043F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L2092F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2073F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2092					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCGAAAGCATCTTCTCTCTCC	0.577000													17	40					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74526035	74526035	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:74526035G>T	ENST00000355780.5	-	8	957	c.739C>A	c.(739-741)Cct>Act	p.P247T	STAU2_ENST00000523558.1_Missense_Mutation_p.P107T|STAU2_ENST00000521451.1_Missense_Mutation_p.P59T|STAU2_ENST00000521727.1_Missense_Mutation_p.P259T|STAU2_ENST00000522509.1_Missense_Mutation_p.P247T|STAU2_ENST00000521210.1_Missense_Mutation_p.P175T|STAU2_ENST00000519961.1_Missense_Mutation_p.P279T|STAU2_ENST00000517542.1_Missense_Mutation_p.P241T|STAU2_ENST00000524300.1_Missense_Mutation_p.P279T|STAU2_ENST00000522695.1_Missense_Mutation_p.P247T	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	279	DRBM 3.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCACCACAGGAAGAGGTGGA	0.378000													36	79					1.96642e-18	1.98513e-18	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714066	70714066	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70714066G>A	ENST00000530196.1	-	0	452					NR_003951.1																						CATCTGGGATGAAGAGCTGAT	0.473000													50	104					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846642	7846642	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:7846642C>T	ENST00000328375.1	-	1	877	c.878G>A	c.(877-879)aGg>aAg	p.R293K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTGTTCCTGAGGCTGTA	0.413000													17	17					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25465652	25465652	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25465652G>A	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1																						TTGGGCTGATGATGAGAACCT	0.507000													73	177					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	32978076	32978076	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:32978076G>A	ENST00000375030.2	+	8	892	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	C10orf68_ENST00000375025.4_Missense_Mutation_p.G84R|C10orf68_ENST00000375028.3_Missense_Mutation_p.G98R			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	84										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTCAAAGGGCAAAGAAT	0.289000													16	36					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356047	22356047	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22356047C>T	ENST00000390437.2	+	0	11																											AAAGCAGATTCTTTTTATGAT	0.388000													6	13					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22676833	22676833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:22676833C>T	ENST00000376603.2	+	6	1130	c.988C>T	c.(988-990)Cca>Tca	p.P330S	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.P229S|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.P254S|SPAG6_ENST00000313311.6_Missense_Mutation_p.P254S			O75602	SPAG6_HUMAN	sperm associated antigen 6	254					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGAGATTTTTCCAGTTGTACT	0.388000													40	68					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100287720	100287720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100287720C>T	ENST00000403410.1	+	7	1311	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	TMEM45A_ENST00000323523.4_Missense_Mutation_p.H215Y			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	215						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TCTGATGGATCATGAAAATAT	0.358000													77	160					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882504	68882504	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:68882504C>T	ENST00000303786.3	+	3	1398	c.978C>T	c.(976-978)atC>atT	p.I326I	PROKR1_ENST00000394342.2_Silent_p.I326I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	326						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCTACATCGTCGAGTGCA	0.527000													35	63					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684779	100684779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100684779C>T	ENST00000306151.4	+	3	10146	c.10082C>T	c.(10081-10083)tCc>tTc	p.S3361F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3361	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)					AGCACCCTTTCCACAACTCCT	0.483000													277	774					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531595	50531595	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50531595G>A	ENST00000374144.3	+	3	1293	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	C10orf71_ENST00000323868.4_Silent_p.E335E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	335										endometrium(1)	1						GTCAGGAAGAGAACAGACTTG	0.587000													6	87					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47297827	47297827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47297827C>T	ENST00000396220.1	-	11	1403	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	PREX1_ENST00000371941.3_Missense_Mutation_p.E461K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	461	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCCTTCTTCCGTCTTGCTG	0.547000													90	284					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170179320	170179320	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:170179320C>A	ENST00000588451.1	+	16	1887	c.1374C>A	c.(1372-1374)ctC>ctA	p.L458L	C6orf70_ENST00000392095.4_Silent_p.L468L|C6orf70_ENST00000366772.2_Silent_p.L547L|C6orf70_ENST00000418781.3_Silent_p.L521L|C6orf70_ENST00000366773.3_Silent_p.L594L			Q5T6L9	CF070_HUMAN		594						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TACTGTTACTCATTGCGCTGG	0.408000													39	90					2.35958e-20	2.38408e-20	1	1	0
UNG	7374	broad.mit.edu	37	12	109540693	109540693	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109540693C>T	ENST00000336865.2	+	4	765	c.556C>T	c.(556-558)Cat>Tat	p.H186Y	UNG_ENST00000242576.2_Missense_Mutation_p.H195Y	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	195					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.H186Y(1)|p.H195Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGATTTTGTTCATCCTGGCCA	0.368000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				31	70					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929156	51929156	+	Missense_Mutation	SNP	C	C	T	rs146704652		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51929156C>T	ENST00000310914.5	-	4	430	c.368G>A	c.(367-369)cGg>cAg	p.R123Q		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	123										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCACTCCTTCCGGGAGAAGGC	0.607000													52	80					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238259834	238259834	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238259834C>T	ENST00000295550.4	-	27	7207	c.6753_splice	c.e27-1	p.G2252_splice	COL6A3_ENST00000472056.1_Splice_Site_p.G1645_splice|COL6A3_ENST00000353578.4_Splice_Site_p.G2046_splice|COL6A3_ENST00000346358.4_Splice_Site_p.G2052_splice|COL6A3_ENST00000347401.3_Splice_Site_p.G2051_splice|COL6A3_ENST00000409809.1_Splice_Site_p.G2046_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2252	Collagen-like 4.|Triple-helical region.				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)		ACCTCCGCTTCCCTGGAGCAG	0.572000													22	64					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990833	47990833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47990833C>T	ENST00000371741.4	-	2	1430	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	422					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTTCTGCTCCTTATAGAAC	0.498000													38	87					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218614560	218614560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:218614560T>A	ENST00000366929.4	+	8	1652	c.1185T>A	c.(1183-1185)taT>taA	p.Y395*	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Nonsense_Mutation_p.Y367*	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	367					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGAGCTTATATAATACCATAA	0.403000													45	137					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678712	38678712	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:38678712G>A	ENST00000267377.2	+	3	735	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	40					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGGCATGGAGGAGCCAGGGCG	0.706000													14	28					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3974120	3974120	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3974120G>A	ENST00000381638.2	-	26	4057	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1311							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAATCCTTTGAAAAGTTCTG	0.468000													42	118					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697725	6697725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6697725G>A	ENST00000245907.6	-	20	2613	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	841					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		TGCTCGTTTCGAACAACAGAG	0.572000													22	55					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421083	11421083	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11421083C>T	ENST00000381842.3	-	0	138				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCTGGCTTTCCTGGAGGAGGT	0.527000													41	79					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646064	61646064	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61646064G>A	ENST00000540820.1	-	5	739	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	FADS3_ENST00000278829.2_Missense_Mutation_p.H223Y|FADS3_ENST00000525588.1_Missense_Mutation_p.H195Y|FADS3_ENST00000527697.1_Missense_Mutation_p.H99Y			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	223					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTGGCGTGGTGCTGGAAG	0.662000													6	95					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350796	50350796	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:50350796G>A	ENST00000376020.2	-	6	3371	c.3346C>T	c.(3346-3348)Cgt>Tgt	p.R1116C	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1000C|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1116C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1116					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tgGGCTGCACGAAAGAGCCTG	0.567000													19	20					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128943	197128943	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197128943G>A	ENST00000367405.4	-	10	2344	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTTTCCTCAGAAGTACTGAG	0.373000													124	170					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91657068	91657068	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:91657068C>T	ENST00000375835.4	-	10	1539	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	411	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CGTGCAGTTTCCCTTCTGGCG	0.577000													49	103					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159995418	159995418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:159995418G>A	ENST00000326448.7	-	17	2309	c.1877C>T	c.(1876-1878)gCt>gTt	p.A626V	IFT80_ENST00000496589.1_Missense_Mutation_p.A489V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A797V|IFT80_ENST00000483465.1_Missense_Mutation_p.A489V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	626						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCTCGATTAGCAACTGCCAT	0.353000													16	46					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458458	38458458	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38458458C>T	ENST00000322350.5	+	20	3079	c.2733C>T	c.(2731-2733)tcC>tcT	p.S911S	EGFLAM_ENST00000514476.1_Silent_p.S54S|EGFLAM_ENST00000506135.1_Silent_p.S54S|EGFLAM_ENST00000336740.6_Silent_p.S677S|EGFLAM_ENST00000354891.3_Silent_p.S919S|EGFLAM_ENST00000397210.3_Silent_p.S54S|EGFLAM_ENST00000397202.2_Silent_p.S277S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	919	Laminin G-like 3.					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)					TGAATGGCTCCTTCAACGATG	0.532000													40	199					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507008	156507008	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156507008G>A	ENST00000361170.2	-	27	3397	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1129	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCTAAAAGGAACTTATCAG	0.577000													28	105					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915744	31915744	+	Silent	SNP	C	C	T	rs113410938		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31915744C>T	ENST00000456570.1	+	18	2344	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	CFB_ENST00000425368.2_Silent_p.I261I|CFB_ENST00000477310.1_Silent_p.I612I|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Silent_p.I763I			P00751	CFAB_HUMAN	complement factor B	261					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCGGAAGATCGTCCTGGACC	0.542000													48	159					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397914	8397914	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:8397914G>A	ENST00000471889.1	+	7	2021	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC45A1_ENST00000377479.2_Missense_Mutation_p.D580N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D546N			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	546					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACACAGACTTCATGGG	0.572000													65	114					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914226	75914226	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75914226G>A	ENST00000296641.4	-	2	509	c.306C>T	c.(304-306)ctC>ctT	p.L102L	IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L80L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	102					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CAAACACCAGGAGGTAGATGG	0.488000													66	136					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307956	47307956	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:47307956G>A	ENST00000377065.4	-	5	1852	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H405Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H415Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	447						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCGGTATGAGTTTTCTGA	0.423000													21	78					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410875	119410875	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:119410875G>A	ENST00000371369.4	-	7	766	c.540C>T	c.(538-540)taC>taT	p.Y180Y	TMEM255A_ENST00000309720.5_Silent_p.Y204Y|TMEM255A_ENST00000371352.1_Silent_p.Y40Y|TMEM255A_ENST00000440464.1_Intron	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CGATGTATTCGTAGTACCCAC	0.582000													76	27					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:119773039C>G	ENST00000327554.2	+	1	523	c.58C>G	c.(58-60)Cgg>Ggg	p.R20G	CCDC60_ENST00000539847.1_Missense_Mutation_p.R20G|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.R20G	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502000													8	131					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049213	29049213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:29049213C>T	ENST00000257189.4	+	12	1881	c.1798C>T	c.(1798-1800)Cca>Tca	p.P600S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	600					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACTTCTTACCCAACCACAAG	0.592000													53	106					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724604	138724604	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138724604C>T	ENST00000383163.2	-	1	506	c.507G>A	c.(505-507)atG>atA	p.M169I		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	169										endometrium(3)|kidney(1)|lung(7)	11						CTGCGGAGTCCATCTGGAGCT	0.652000													19	27					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4077644	4077644	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:4077644C>T	ENST00000274673.3	-	2	408	c.5G>A	c.(4-6)gGg>gAg	p.G2E	FAM217A_ENST00000380188.2_Intron	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	2																	ATTTCTTCTCCCCATTTTGTT	0.443000													28	199					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60892526	60892526	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60892526G>A	ENST00000347785.3	+	9	1468	c.1302G>A	c.(1300-1302)acG>acA	p.T434T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	434					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCAACCACACGGCAACCGTCC	0.567000													38	77					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115524123	115524123	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115524123C>T	ENST00000369522.3	+	29	2789	c.2549C>T	c.(2548-2550)cCa>cTa	p.P850L	SYCP1_ENST00000369518.1_Missense_Mutation_p.P850L|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	850					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATCTACACCATTGCCAAAG	0.323000													4	90					0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134127495	134127495	+	Silent	SNP	G	G	A	rs116049631	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134127495G>A	ENST00000285930.4	-	10	1015	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	312					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	ACTCTTCATGGAAGGGGTAAT	0.448000													21	88					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102256904	102256904	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102256904G>A	ENST00000370345.3	-	17	2221	c.2124C>T	c.(2122-2124)ccC>ccT	p.P708P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	708					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCAGAGCCATGGGGGACAAAG	0.597000													25	56					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704233	56704233	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56704233C>T	ENST00000586855.2	-	2	502	c.189G>A	c.(187-189)agG>agA	p.R63R	ZSCAN5B_ENST00000358992.3_Silent_p.R63R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	63	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGTGAGTTTCCTCAGAGCCT	0.537000													43	12					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828606	74828606	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74828606G>A	ENST00000412021.2	-	6	794	c.461C>T	c.(460-462)cCa>cTa	p.P154L	P4HA1_ENST00000373008.2_Missense_Mutation_p.P154L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P154L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P154L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P154L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P154L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	154						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATCTTACCTGGAAGATTACC	0.373000													42	113					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953057	71953057	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:71953057G>A	ENST00000355327.3	+	8	1475	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	THSD4_ENST00000261862.6_Silent_p.K447K|THSD4_ENST00000357769.4_Silent_p.K87K|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	447						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGATGTACAAGAGCAACAACT	0.507000													26	69					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68840859	68840859	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:68840859G>A	ENST00000355237.2	+	6	1602	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K	OCLN_ENST00000396442.2_Missense_Mutation_p.R389K|OCLN_ENST00000538151.1_Missense_Mutation_p.R138K|OCLN_ENST00000542132.1_Missense_Mutation_p.R67K|OCLN_ENST00000380766.2_Missense_Mutation_p.R335K|OCLN_ENST00000514370.1_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	389					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGAGCAGGAAGGTCAAAGAGA	0.517000													6	108					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416035	86416035	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86416035C>T	ENST00000361669.2	+	3	2026	c.927C>T	c.(925-927)atC>atT	p.I309I	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.I181I|GRM3_ENST00000394720.2_Silent_p.I307I|GRM3_ENST00000439827.1_Silent_p.I309I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	309					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGGAGAGCATCATCAAGGGCA	0.682000													36	92					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:86250487G>A	ENST00000523953.1	-	4	1275	c.229C>T	c.(229-231)Cga>Tga	p.R77*	CA1_ENST00000256119.5_Nonsense_Mutation_p.R77*|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Nonsense_Mutation_p.R77*|CA1_ENST00000431316.1_Nonsense_Mutation_p.R77*|CA1_ENST00000523022.1_Nonsense_Mutation_p.R77*|CA1_ENST00000542576.1_Nonsense_Mutation_p.R77*|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	77					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393000													71	112					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234855796	234855796	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234855796G>A	ENST00000324695.4	+	8	979	c.939G>A	c.(937-939)ttG>ttA	p.L313L	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	313						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGAGACTTTGAAAGTGAGTC	0.363000													25	49					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123848075	123848075	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123848075G>A	ENST00000369005.1	+	5	5882	c.5542G>A	c.(5542-5544)Gat>Aat	p.D1848N	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1848N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1848N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1848N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1848N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1848						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTCACTTCAGATGAGACCAG	0.468000													17	35					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414538	213414538	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:213414538C>T	ENST00000366960.3	+	11	1869	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	RPS6KC1_ENST00000543470.1_Silent_p.F361F|RPS6KC1_ENST00000543354.1_Silent_p.F276F|RPS6KC1_ENST00000366959.3_Silent_p.F561F|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	573					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAAGTTCTTCCCCAACGATG	0.463000													25	81					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702545	81702545	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:81702545C>T	ENST00000372292.3	-	3	330	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	97	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCCTTTGGTCCAGGTTCTCC	0.597000													11	164					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458618	19458618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19458618G>A	ENST00000270570.4	+	7	723	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V213M|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V213M|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V190M|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	213						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCATCTTGGGGTGATGTGAGT	0.502000													60	122					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506413	125506413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:125506413C>T	ENST00000241305.3	-	14	2292	c.2138G>A	c.(2137-2139)aGg>aAg	p.R713K	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	713					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAAGTCACACCTTGTGGCCCC	0.552000													11	262					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058536	56058536	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56058536C>T	ENST00000313022.2	-	1	30	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCTTCTACCCATGATGTTCA	0.353000													35	92					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:73480322C>T	ENST00000523207.1	+	2	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	118					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S118L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGTGCACTTTCGTTTGGCCAA	0.423000													37	88					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128946727	128946727	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:128946727G>A	ENST00000357166.6	-	8	1135	c.744C>T	c.(742-744)ttC>ttT	p.F248F	ZDHHC9_ENST00000371064.3_Silent_p.F248F	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	248						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GAGCCACGAGGAAAGTATGAA	0.458000													26	126					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517704	195517704	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195517704G>A	ENST00000463781.3	-	2	1206	c.747C>T	c.(745-747)tcC>tcT	p.S249S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S249S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	254					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACTACAGAGGGATGAGGTAG	0.468000													8	120					0	0	1	0	0
MAT2B	27430	broad.mit.edu	37	5	162944662	162944662	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:162944662C>T	ENST00000280969.5	+	6	1064	c.783C>T	c.(781-783)ccC>ccT	p.P261P	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Silent_p.P272P|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR	NM_182796.1	NP_877725.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	272					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAACCTCCCCAGCAGTCACT	0.403000													14	40					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24498624	24498624	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:24498624A>T	ENST00000264463.4	-	9	1905	c.1398T>A	c.(1396-1398)aaT>aaA	p.N466K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCTTTGGGATTGTCTGGAA	0.368000										HNSCC(23;0.051)			23	49					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712238	121712238	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121712238C>T	ENST00000273691.3	-	6	1331	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ILDR1_ENST00000344209.5_Missense_Mutation_p.R453Q|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R421Q|ILDR1_ENST00000393631.1_Missense_Mutation_p.R364Q	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	453						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGTGCTCTCCCGGGGGCTGGG	0.672000													10	38					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472039	81472039	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81472039G>A	ENST00000548058.1	+	1	1050	c.140G>A	c.(139-141)gGg>gAg	p.G47E	ACSS3_ENST00000261206.3_Missense_Mutation_p.G47E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	47						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCGGTCTCGGGGGCCGGGGA	0.736000													14	18					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509545	169509545	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169509545C>T	ENST00000367796.3	-	13	4999	c.4798G>A	c.(4798-4800)Gaa>Aaa	p.E1600K	F5_ENST00000367797.3_Missense_Mutation_p.E1595K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1595	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTACAAATTCTGAATAATCC	0.383000													15	143					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704351	33704351	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:33704351G>A	ENST00000336934.5	-	5	579	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	STARD13_ENST00000255486.4_Missense_Mutation_p.R147C|STARD13_ENST00000399365.3_Missense_Mutation_p.R37C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCGTCCACACGAGACCACCTG	0.557000													15	52					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36788640	36788640	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:36788640G>A	ENST00000399881.3	+	25	2945	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	970						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTCCTTACACGAAACCATTTT	0.423000													59	142					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372866	82372866	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:82372866G>A	ENST00000370728.1	+	6	883	c.238G>A	c.(238-240)Gag>Aag	p.E80K	LPHN2_ENST00000335786.5_Missense_Mutation_p.E80K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E80K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E80K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E80K|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E80K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E80K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E80K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E80K			O95490	LPHN2_HUMAN	latrophilin 2	80	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTCAGATGGAGAATACAGA	0.423000													47	82					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795205	55795205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55795205C>T	ENST00000379665.2	+	1	992	c.893C>T	c.(892-894)gCc>gTc	p.A298V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTGAAACAGGCCCTTAGGGAA	0.363000													17	53					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048894	42048894	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:42048894G>A	ENST00000372584.1	-	3	2589	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	HIVEP3_ENST00000247584.5_Silent_p.L525L|HIVEP3_ENST00000429157.2_Silent_p.L525L|HIVEP3_ENST00000372583.1_Silent_p.L525L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	525	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCGGGTGCTGGAGGCTCAGCA	0.627000													21	125					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27457334	27457334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27457334G>A	ENST00000337929.3	+	8	1265	c.792G>A	c.(790-792)tgG>tgA	p.W264*	IL21R_ENST00000395754.4_Nonsense_Mutation_p.W264*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W264*|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Nonsense_Mutation_p.W264*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	264					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCAGGCTATGGAAGAAGATAT	0.617000			T	BCL6	NHL								18	51					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10680341	10680341	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:10680341C>T	ENST00000302079.6	-	47	7278	c.7279G>A	c.(7279-7281)Gaa>Aaa	p.E2427K	PIEZO2_ENST00000285141.4_Missense_Mutation_p.E282K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2515K|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E447K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2490K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2490						integral to membrane	ion channel activity										TCTTCTTTTTCATAATTTTCC	0.388000													33	75					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315686	30315686	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30315686G>A	ENST00000375377.1	-	3	3492	c.3391C>T	c.(3391-3393)Cgc>Tgc	p.R1131C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1131										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTGCTGGGCGAGATAGCAAC	0.632000													58	108					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88330446	88330446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:88330446C>T	ENST00000418177.2	-	6	1836	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	GRM5_ENST00000393297.1_Missense_Mutation_p.G490E|GRM5_ENST00000455756.2_Missense_Mutation_p.G490E|GRM5_ENST00000305432.5_Missense_Mutation_p.G490E|GRM5_ENST00000305447.4_Missense_Mutation_p.G490E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	490					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTTTAATTCTCCATTGTCCCA	0.333000													23	52					0	0	1	0	0
GMFG	9535	broad.mit.edu	37	19	39826164	39826164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39826164G>A	ENST00000598034.1	-	2	40	c.11C>T	c.(10-12)tCc>tTc	p.S4F	GMFG_ENST00000601387.1_Intron|GMFG_ENST00000597595.1_Missense_Mutation_p.S4F|GMFG_ENST00000595636.1_Missense_Mutation_p.S4F|GMFG_ENST00000594700.1_Missense_Mutation_p.S4F|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000600322.1_5'UTR			O60234	GMFG_HUMAN	glia maturation factor, gamma	4	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCACCAGGGAGTCAGACTG	0.537000													8	141					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294270	114294270	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:114294270C>T	ENST00000357077.4	+	44	11688	c.11635C>T	c.(11635-11637)Cca>Tca	p.P3879S	ANK2_ENST00000506722.1_Missense_Mutation_p.P1785S|ANK2_ENST00000394537.3_Missense_Mutation_p.P1794S|ANK2_ENST00000264366.6_Missense_Mutation_p.P3846S|ANK2_ENST00000510275.2_Missense_Mutation_p.P477S|ANK2_ENST00000509550.1_Missense_Mutation_p.P970S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3846					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAATACCCCCAGAAACAGT	0.423000													15	150					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979452	124979452	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:124979452C>T	ENST00000368417.1	+	4	454	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	NKAIN2_ENST00000368416.1_Missense_Mutation_p.R132C|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R117C	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	132						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		AGAAGACCATCGCTACATCAC	0.517000													26	67					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78582433	78582433	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:78582433C>T	ENST00000397909.2	+	33	6104	c.5931C>T	c.(5929-5931)agC>agT	p.S1977S	NAV3_ENST00000228327.6_Silent_p.S1955S|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Silent_p.S1778S|NAV3_ENST00000536525.2_Silent_p.S1955S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1977						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGGTCTGAGCTCTGACTGCA	0.388000										HNSCC(70;0.22)			45	103					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582544	82582544	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82582544G>A	ENST00000423517.2	-	5	8062	c.7725C>T	c.(7723-7725)tcC>tcT	p.S2575S	PCLO_ENST00000333891.8_Silent_p.S2575S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2506					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						TTTCTGTGAGGGATTTGGAAA	0.433000													70	205					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407271	140407271	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:140407271T>A	ENST00000286349.3	+	3	1938	c.1747T>A	c.(1747-1749)Tct>Act	p.S583T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	583						intracellular	zinc ion binding			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						AGACAGCCAGTCTGTACAGAA	0.577000													54	126					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196973938	196973938	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196973938G>A	ENST00000367414.5	+	9	1606	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	CFHR5_ENST00000256785.4_Missense_Mutation_p.R493K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	493	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAACATGCAGAAATAAACAG	0.393000													65	59					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301936	11301936	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11301936T>C	ENST00000397056.1	+	3	1404	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	HRH1_ENST00000431010.2_Silent_p.L405L|HRH1_ENST00000438284.2_Silent_p.L405L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	405					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGTATCTGGGTTGCACATGAA	0.478000													69	145					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	55					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953243	38953243	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38953243G>A	ENST00000306658.7	-	5	968	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	301	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGCTCCGGGCGAAAGTGGCTG	0.657000													45	66					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482301	87482301	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:87482301C>T	ENST00000304053.6	+	14	2071	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	NTRK2_ENST00000277120.3_Missense_Mutation_p.P530S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P514S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P530S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P514S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P514S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	514					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CATTGAAAATCCCCAGTACTT	0.453000										TSP Lung(25;0.17)			9	205					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296256	10296256	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10296256C>T	ENST00000403437.2	-	37	5449	c.5355G>A	c.(5353-5355)atG>atA	p.M1785I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1785					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						GGTTCTTCTTCATCCGCTCCA	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				78	154					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21926571	21926571	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:21926571G>A	ENST00000358242.3	+	5	787	c.294_splice	c.e5+1	p.E98_splice	DMTN_ENST00000432128.1_Splice_Site_p.E98_splice|DMTN_ENST00000381470.3_Splice_Site_p.E98_splice|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000265800.5_Splice_Site_p.E98_splice|DMTN_ENST00000415253.1_Splice_Site_p.E98_splice|DMTN_ENST00000519907.1_Splice_Site_p.E98_splice|DMTN_ENST00000523266.1_Splice_Site_p.E98_splice|DMTN_ENST00000523782.2_Splice_Site_p.E73_splice|DMTN_ENST00000443491.2_Splice_Site_p.E73_splice					dematin actin binding protein																		CATCCCCAGAGGTGAGTCTGC	0.617000													41	68					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490332	101490332	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101490332C>T	ENST00000392979.3	+	18	2013	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	ANO4_ENST00000299222.9_Missense_Mutation_p.S106F|ANO4_ENST00000392977.3_Missense_Mutation_p.S586F|ANO4_ENST00000550015.1_Missense_Mutation_p.S106F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	586						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CGCACAGAGTCTGAGTGGGAG	0.468000										HNSCC(74;0.22)			33	61					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923051	24923051	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:24923051C>T	ENST00000329468.2	+	1	2511	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGACACCTCCACTTTAGTGA	0.512000													55	155					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881851	18881851	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18881851C>T	ENST00000388995.6	-	5	1351	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L376L|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.L376L			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	376										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCTTTCAGCCCCAGGG	0.602000													25	53					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708892	176708892	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176708892C>T	ENST00000367662.3	+	13	5093	c.3929C>T	c.(3928-3930)tCt>tTt	p.S1310F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1310					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						AGCAACCACTCTCTTGGTGAG	0.478000													45	44					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140803058	140803058	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140803058C>T	ENST00000398587.2	+	1	2297	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACCTATTCCCACGAGGTC	0.562000													44	83					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38282794	38282794	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38282794C>T	ENST00000412331.2	+	12	2180	c.1598C>T	c.(1597-1599)aCc>aTc	p.T533I	EIF3L_ENST00000381683.6_Missense_Mutation_p.T485I|EIF3L_ENST00000406934.1_Missense_Mutation_p.T435I	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	533						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCGCGGACACCAAGGTCGCC	0.557000													7	84					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899514	202899514	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:202899514C>T	ENST00000286201.1	+	1	205	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	48	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACCACGGCTTCTGCCAGCCCA	0.692000													41	96					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882170	21882170	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21882170G>A	ENST00000328843.6	+	67	10752	c.10721G>A	c.(10720-10722)aGg>aAg	p.R3574K	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3567K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3574	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTATATCAGGATTGGAGAT	0.388000									Kartagener syndrome				24	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435476	179435476	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179435476G>A	ENST00000589042.1	-	326	75607	c.75383C>T	c.(75382-75384)tCa>tTa	p.S25128L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16188L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23487L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22560L|TTN_ENST00000460472.2_Missense_Mutation_p.S16063L|TTN_ENST00000342175.6_Missense_Mutation_p.S16255L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23487	Fibronectin type-III 82.						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)			AACCTTGAATGATTCACCAGC	0.398000													64	140					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33291774	33291774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:33291774C>T	ENST00000373475.5	+	3	328	c.74C>T	c.(73-75)tCt>tTt	p.S25F	S100PBP_ENST00000373476.1_Missense_Mutation_p.S25F|S100PBP_ENST00000398243.3_Missense_Mutation_p.S25F|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	25						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCCCATTTTCTTGGGATTCC	0.463000													39	95					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122928133	122928133	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:122928133T>A	ENST00000309934.4	+	1	965	c.69T>A	c.(67-69)gaT>gaA	p.D23E	SEC22A_ENST00000481965.2_Missense_Mutation_p.D23E|SEC22A_ENST00000492595.1_Missense_Mutation_p.D23E|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	23	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTTCTACTGATTATGAACAAA	0.393000													44	71					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439732	44439732	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44439732C>T	ENST00000372622.3	+	13	956	c.888C>T	c.(886-888)tcC>tcT	p.S296S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	296						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AATTGAAATCCTTTGTCCTAC	0.493000													75	99					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CACAGAATTTCTATAGACTTC	0.318000													19	39					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166859	100166859	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100166859G>A	ENST00000547776.2	-	8	968	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.T323T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	323						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323000													22	56					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405837	55405837	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55405837G>A	ENST00000314612.2	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAA	0.303000													75	164					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620548	56620548	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56620548T>A	ENST00000321691.3	-	1	1181	c.1000A>T	c.(1000-1002)Agg>Tgg	p.R334W	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	334										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGTGACCCTGCGGCCAACC	0.542000													22	83					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137504316	137504316	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137504316A>T	ENST00000230901.5	-	9	719	c.704T>A	c.(703-705)cTt>cAt	p.L235H	BRD8_ENST00000254900.5_Intron|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.L235H|BRD8_ENST00000402931.1_Intron	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	193					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCTGGAGGAAGGGTGTCAGG	0.532000													7	58					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44101123	44101123	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:44101123C>T	ENST00000263776.8	+	10	1310	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	292							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						ACATGCTGTCCGTGTTTGAGA	0.572000													3	38					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346594	11346594	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:11346594C>T	ENST00000304623.8	-	9	1707	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	CTNND2_ENST00000503622.1_Silent_p.L169L|CTNND2_ENST00000359640.2_Silent_p.L506L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.L73L|CTNND2_ENST00000511377.1_Silent_p.L415L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	506					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACAATACTGCAGCTGTCGGT	0.632000													58	58					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168549374	168549374	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:168549374C>T	ENST00000367818.3	+	2	300	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	45					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TTAGCAGAATCAAGACCTACA	0.483000													81	117					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078599	11078599	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11078599G>A	ENST00000287766.4	+	16	2168	c.1747G>A	c.(1747-1749)Ggt>Agt	p.G583S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G405S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	583					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCCAGAGAATGGTCCTGAGCA	0.642000													32	70					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807163	124807163	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124807163G>A	ENST00000423114.2	-	13	2059	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.P459L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.P658L|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Missense_Mutation_p.P658L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	658					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCTGCAGGAGGGGAGCAAGAG	0.527000													18	42					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473243	52473243	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:52473243G>A	ENST00000219746.9	-	7	1909	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	TOX3_ENST00000407228.3_Missense_Mutation_p.S537F	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	542	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AGGGATGGGGGATGTTATCTG	0.587000													9	9					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:78784740G>A	ENST00000545128.1	+	13	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|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						CTCAGCTAAGGAACTTTAAGA	0.423000													11	145					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542524	179542524	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179542524G>A	ENST00000589042.1	-	146	34339	c.34115C>T	c.(34114-34116)cCt>cTt	p.P11372L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11055L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10128L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11055	Glu-rich.|Pro-rich.						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)			CTCTTCCTCAGGTAGAACTTC	0.438000													6	205					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151705006	151705006	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151705006G>A	ENST00000392800.2	+	7	1257	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.E335K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	335	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTGGGGAAGAGAAAATTTGGA	0.338000													46	167					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160458940	160458940	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160458940C>T	ENST00000368059.3	-	6	883	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SLAMF6_ENST00000368055.1_Missense_Mutation_p.E162K|SLAMF6_ENST00000368057.3_Missense_Mutation_p.E273K	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	273						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAACATACTCTAGGTTCCTT	0.473000													25	114					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676171	113676171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113676171G>A	ENST00000263326.3	+	5	484	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	IL37_ENST00000311328.2_Missense_Mutation_p.E122K|IL37_ENST00000353225.3_Missense_Mutation_p.E108K|IL37_ENST00000352179.3_Missense_Mutation_p.E127K|IL37_ENST00000349806.3_Missense_Mutation_p.E87K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	148					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.E122K(1)|p.E148K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGCCCAAAAGGAATCAGCACG	0.532000													21	54					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670622	131670622	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131670622C>T	ENST00000259324.5	+	3	1702	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	LRRC8A_ENST00000372600.4_Silent_p.F393F|LRRC8A_ENST00000372599.3_Silent_p.F393F	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	393					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCGCCGTCTTCCTGTCGGAGG	0.592000													50	91					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726436	25726436	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25726436C>T	ENST00000297012.3	-	1	354	c.320G>A	c.(319-321)gGa>gAa	p.G107E		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	107					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGGCAGGACTCCGCCCTGGGC	0.498000													103	350					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182766759	182766759	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:182766759C>T	ENST00000431877.2	+	8	1158	c.979C>T	c.(979-981)Cta>Tta	p.L327L	SSFA2_ENST00000428267.2_Silent_p.L174L|SSFA2_ENST00000320370.7_Silent_p.L327L|SSFA2_ENST00000409001.1_Silent_p.L327L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	327						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGGAAAGATTCTAAATGTTTC	0.318000													26	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947516	237947516	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:237947516C>T	ENST00000366574.2	+	90	12821	c.12504C>T	c.(12502-12504)tcC>tcT	p.S4168S	RYR2_ENST00000360064.6_Silent_p.S4174S|RYR2_ENST00000542537.1_Silent_p.S4152S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4168					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAAGGAGTCCAAAAGACAGT	0.493000													92	110					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128865628	128865628	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:128865628C>T	ENST00000375990.3	+	4	725	c.322C>T	c.(322-324)Caa>Taa	p.Q108*	UGGT1_ENST00000259253.6_Nonsense_Mutation_p.Q132*			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	132					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTACAATCCAAGCCTTCCA	0.428000													64	112					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													38	104					0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204143381	204143381	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:204143381C>T	ENST00000356079.4	+	7	888	c.765C>T	c.(763-765)tcC>tcT	p.S255S	CYP20A1_ENST00000429815.2_Silent_p.S263S|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	255						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TCATTGACTCCTTAGTACAAG	0.368000													8	34					0	0	1	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156044	39156044	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39156044G>A	ENST00000391587.1	-	1	94	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	21	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TTTGTCGGAGGAGCAGATGGT	0.587000													30	130					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104117332	104117332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:104117332G>A	ENST00000265148.3	-	3	315	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q76*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	76	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGTAGCCTTGTATGGCAGAA	0.373000													23	40					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367232	234367232	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:234367232G>A	ENST00000366618.3	+	3	498	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G49E	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	49					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)			GAGGCCGGCGGGAGAGCGAGT	0.751000													44	95					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886809	227886809	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:227886809C>T	ENST00000396625.3	-	44	4378	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E1388K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1391	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)		ATGGCTCCTTCTGGTCCTCTC	0.542000													118	207					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839092	44839092	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44839092G>A	ENST00000372262.3	-	6	1540	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	CDH22_ENST00000537909.1_Silent_p.I380I|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	380	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCACGCGCACGATCGCCTGGT	0.706000													13	25					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113831967	113831967	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113831967C>T	ENST00000393197.2	+	2	515	c.94C>T	c.(94-96)Cct>Tct	p.P32S	IL1F10_ENST00000341010.2_Missense_Mutation_p.P32S|IL1F10_ENST00000337569.3_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	32						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GGTGGGAGATCCTGTTGCAGA	0.532000													33	60					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242369	4242369	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:4242369C>T	ENST00000399609.3	-	6	1219	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	SRL_ENST00000537996.1_Missense_Mutation_p.D361N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	862	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCGAAGAAGTCCTTATAGGCC	0.488000													8	110					0	0	1	0	0
RIMBP3B	440804	broad.mit.edu	37	22	21742780	21742780	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21742780G>A	ENST00000434111.1	+	1	5118	c.4633G>A	c.(4633-4635)Gac>Aac	p.D1545N		NM_001128635.1	NP_001122107.1			RIMS binding protein 3B																		CCACCTCGAGGACTTTCAGGG	0.617000													9	62					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968118	68968118	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:68968118G>A	ENST00000288368.4	+	10	1424	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACAGGGTGAGAAACTTTA	0.373000													28	89					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395856	54395856	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54395856C>T	ENST00000263431.3	+	7	1062	c.780C>T	c.(778-780)tcC>tcT	p.S260S	PRKCG_ENST00000542049.1_Silent_p.S147S|PRKCG_ENST00000540413.1_Silent_p.S260S|PRKCG_ENST00000536044.1_Silent_p.S260S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGCCATGTCCTTTGGCGTCT	0.647000													14	39					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25477345	25477345	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:25477345C>T	ENST00000278886.6	-	10	1337	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	NINL_ENST00000422516.1_Missense_Mutation_p.D422N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	422					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGCAGTCGTCCATCTCTTTC	0.602000													8	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058844	9058844	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9058844G>A	ENST00000397910.4	-	3	28805	c.28602C>T	c.(28600-28602)tcC>tcT	p.S9534S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9536	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGGAAGAGGAATAGAGTT	0.488000													29	83					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25346722	25346722	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25346722G>A	ENST00000546682.1	+	0	1475				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-27_ENST00000516087.1_RNA	NR_003361.1																						AAATGTGCCTGGATCGATGAT	0.413000													25	47					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101574980	101574980	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101574980C>G	ENST00000310954.6	-	12	2275	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	663					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TATGGGCCATCTTGATGTTAT	0.318000													6	76					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24586486	24586486	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24586486C>T	ENST00000446197.3	+	4	1022	c.295C>T	c.(295-297)Cct>Tct	p.P99S	DCAF11_ENST00000396936.1_Silent_p.P20P|DCAF11_ENST00000559115.1_Missense_Mutation_p.P99S|DCAF11_ENST00000396941.4_Missense_Mutation_p.P73S|DCAF11_ENST00000560171.1_Intron	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	99						CUL4 RING ubiquitin ligase complex	protein binding										GGATGCTACCCCTGACACCCG	0.577000													22	43					0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156798336	156798336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:156798336C>T	ENST00000252971.6	-	3	1384	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.E150K	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	362					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGTCGTCCTCGTCCTCGTCC	0.731000													17	60					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523096	43523096	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43523096G>A	ENST00000401740.1	-	3	638	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000306322.7_Silent_p.L57L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCCACCACAGGTAGCTTGCG	0.512000													183	400					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564786	84564786	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84564786G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TGCCCCACAGGAAGCCTGTGC	0.502000													7	17					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460977	12460977	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12460977G>A	ENST00000242804.4	-	6	2004	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	ZNF442_ENST00000438182.1_Silent_p.S405S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GATTTTGAAAGGAATAGAAAT	0.378000													40	106					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063184	9063184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9063184C>T	ENST00000397910.4	-	3	24465	c.24262G>A	c.(24262-24264)Gtt>Att	p.V8088I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTAATAACCATTGGAGAT	0.478000													5	116					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79917895	79917895	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79917895G>A	ENST00000360280.3	+	34	4137	c.3877G>A	c.(3877-3879)Gtt>Att	p.V1293I	VPS13A_ENST00000357409.5_Missense_Mutation_p.V1293I|VPS13A_ENST00000376636.3_Missense_Mutation_p.V1254I|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.V1293I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1293					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATCTTGAGGTTGTGGTTGA	0.353000													6	154					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81638765	81638765	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:81638765C>T	ENST00000558726.1	-	12	1351	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.G405R			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	405						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGAGATTTCCCAAATACAGC	0.512000													11	18					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682608	11682608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:11682608G>A	ENST00000337414.4	-	1	1213	c.341C>T	c.(340-342)cCa>cTa	p.P114L	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P114L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P114L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	114					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTGCCGGATGGTGACTTCTC	0.662000													4	31					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622534	10622534	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:10622534C>T	ENST00000547195.1	-	14	2175	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.D559N|MRVI1_ENST00000421747.1_Missense_Mutation_p.D641N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D623N|MRVI1_ENST00000552103.1_Missense_Mutation_p.D559N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D650N|MRVI1_ENST00000558540.1_Missense_Mutation_p.D335N|MRVI1_ENST00000545852.1_Missense_Mutation_p.D335N|MRVI1_ENST00000534266.2_Missense_Mutation_p.D335N|MRVI1_ENST00000531107.1_Missense_Mutation_p.D642N|MRVI1_ENST00000424001.1_Missense_Mutation_p.D335N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D444N	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	623					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCGCATGGTCCTTCTCATAC	0.522000													123	109					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297986	197297986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197297986G>A	ENST00000367400.3	+	2	640	c.505G>A	c.(505-507)Ggt>Agt	p.G169S	CRB1_ENST00000367399.2_Missense_Mutation_p.G169S|CRB1_ENST00000538660.1_Missense_Mutation_p.G169S|CRB1_ENST00000535699.1_Missense_Mutation_p.G100S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	169	EGF-like 4; 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			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						TGGAATTGATGGTTACTCCTG	0.517000													28	33					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148786	34148786	+	Missense_Mutation	SNP	G	G	A	rs45574734		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:34148786G>A	ENST00000346193.3	-	1	1661	c.1610C>T	c.(1609-1611)aCt>aTt	p.T537I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	537										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CACTCGACGAGTCTTGGGAGG	0.647000													55	21					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502007	90502007	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90502007C>T	ENST00000325643.5	+	4	2671	c.2605C>T	c.(2605-2607)Ccc>Tcc	p.P869S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TCAGGCCCCGCCCTTCCCACA	0.557000													8	62					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6882375	6882375	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6882375G>A	ENST00000203629.2	+	2	409	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	LAG3_ENST00000441671.2_Missense_Mutation_p.G26R	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	26						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCCAGCCAGGGGCTGAGGT	0.667000													28	100					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558271	149558271	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149558271C>T	ENST00000223210.4	+	7	2267	c.2022C>T	c.(2020-2022)atC>atT	p.I674I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCGAGACCATCGTTTCTGCCC	0.577000													10	48					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789951	140789951	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140789951C>T	ENST00000520790.1	+	1	2182	c.2182C>T	c.(2182-2184)Cat>Tat	p.H728Y	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGCTTCCATCCTGGTCT	0.542000													45	112					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882499	144882499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:144882499G>A	ENST00000369359.4	-	27	3969	c.3931C>T	c.(3931-3933)Ccc>Tcc	p.P1311S	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1174S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1311S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1174S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1174					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGGGTCTGGGGAAAGGCCTC	0.517000			T	PDGFRB	MPD								24	181					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380676	136380676	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136380676G>A	ENST00000339996.3	-	4	554	c.453C>T	c.(451-453)acC>acT	p.T151T	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	151						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CTATCTGCTGGGTGTAGACGC	0.592000													7	132					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47769387	47769387	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47769387C>T	ENST00000398545.4	-	6	1213	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	366										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTTGTCTTCCTCTAATATT	0.408000													89	176					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100413784	100413784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100413784C>T	ENST00000273352.3	+	16	2601	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.T483I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	778					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTACTGGAAACCTCTCCGAGT	0.443000													6	119					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71266490	71266490	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:71266490C>T	ENST00000418814.2	+	21	4880	c.4266C>T	c.(4264-4266)tcC>tcT	p.S1422S	FAM135A_ENST00000457062.2_Silent_p.S1209S|FAM135A_ENST00000370479.3_Silent_p.S1209S|FAM135A_ENST00000361499.3_Silent_p.S1226S|FAM135A_ENST00000505868.1_Silent_p.S1422S|FAM135A_ENST00000505769.1_Silent_p.S1002S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1422										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGTGGGATCCCTACAGGATC	0.318000													13	42					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41652410	41652410	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41652410G>A	ENST00000230323.4	-	10	1659	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	TFEB_ENST00000373033.1_Missense_Mutation_p.T453I|TFEB_ENST00000403298.4_Missense_Mutation_p.T453I|TFEB_ENST00000420312.1_Missense_Mutation_p.T368I|TFEB_ENST00000358871.2_Missense_Mutation_p.T467I	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	453				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGGGACATGGTGGACAGAAG	0.642000			T	ALPHA	renal (childhood epithelioid)								42	157					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950747	148950747	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:148950747C>T	ENST00000335870.2	+	5	857	c.729C>T	c.(727-729)ttC>ttT	p.F243F		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGCAGGCTTTCCTGAGCCCAG	0.547000													57	206					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50550694	50550694	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:50550694G>A	ENST00000267845.3	-	3	627	c.225C>T	c.(223-225)ccC>ccT	p.P75P	HDC_ENST00000543581.1_Silent_p.P75P	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	75					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTGCATATGGGGGCTCTGCC	0.567000													8	27					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41552593	41552593	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41552593C>T	ENST00000373060.1	+	4	845	c.387C>T	c.(385-387)gcC>gcT	p.A129A	FOXP4_ENST00000409208.1_Silent_p.A129A|FOXP4_ENST00000373057.3_Silent_p.A129A|FOXP4_ENST00000373063.3_Silent_p.A129A|FOXP4_ENST00000307972.4_Silent_p.A129A	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	129	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCTGCAGGCCTTGCTCCAGC	0.662000													8	27					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047094	55047094	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55047094G>A	ENST00000335056.3	+	4	677	c.639G>A	c.(637-639)ctG>ctA	p.L213L	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTGACCCCCTGGACATTGTGA	0.542000													7	168					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94745875	94745875	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:94745875C>T	ENST00000399300.2	-	3	2977	c.2764G>A	c.(2764-2766)Ggt>Agt	p.G922S	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.G802S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	922							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTACTCTACCTGAACCACAA	0.358000													87	143					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134072872	134072872	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:134072872C>T	ENST00000359428.5	+	29	4135	c.3991C>T	c.(3991-3993)Ctg>Ttg	p.L1331L	NUP214_ENST00000483497.2_Silent_p.L157L|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Silent_p.L1332L|NUP214_ENST00000411637.2_Silent_p.L1321L			P35658	NU214_HUMAN	nucleoporin 214kDa	1331	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGAGAGACTCTGGGAAGTTT	0.498000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								64	135					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	739257	739257	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:739257G>A	ENST00000293883.4	-	1	1143	c.384C>T	c.(382-384)ttC>ttT	p.F128F	WDR24_ENST00000248142.6_Silent_p.F190F	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	190										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGGTGGGGTGGAAGCAGACTT	0.592000													36	69					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132889814	132889814	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:132889814C>T	ENST00000372406.1	+	18	2060	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	GPR107_ENST00000347136.6_Missense_Mutation_p.A470V|GPR107_ENST00000372410.3_Missense_Mutation_p.A489V	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	518						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CTCAAACTCGCTGTTCCATTC	0.413000													17	46					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360951	107360951	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107360951C>T	ENST00000374779.2	-	1	837	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGAATGTTATCACCACAGTCA	0.428000													28	83					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49948156	49948156	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49948156G>A	ENST00000257981.6	+	11	2215	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	652					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R652L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGCCCCGGCGGGAGCAGGTG	0.637000													18	202					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21493000	21493000	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:21493000T>G	ENST00000377142.4	-	2	739	c.383A>C	c.(382-384)aAg>aCg	p.K128T		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	128					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCTTTCGCTTCTTGCCGGC	0.687000													4	20					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72430573	72430573	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72430573C>T	ENST00000285805.3	-	4	904	c.705G>A	c.(703-705)gaG>gaA	p.E235E	TRIM74_ENST00000395244.1_Silent_p.E235E	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	235						intracellular	zinc ion binding			prostate(1)	1						CATGGTGGTCCTCATTTCCGA	0.647000													7	271					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832439	4832439	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:4832439G>A	ENST00000378191.4	+	4	1398	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	AJAP1_ENST00000378190.3_Silent_p.R339R	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	339	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCTCGGCCCGGGTGCCCAGCA	0.622000													8	71					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37591446	37591446	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:37591446G>A	ENST00000360252.4	-	23	2178	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F	SUPT20H_ENST00000356185.3_Missense_Mutation_p.S644F|SUPT20H_ENST00000350612.6_Missense_Mutation_p.S643F|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S644F|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S722F	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGTAAACTGGGAGAGCTGCTG	0.413000													54	79					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360845	83360845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:83360845C>T	ENST00000262752.2	-	16	1412	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E469K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	469	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCAATATTTCAATCTCTTCT	0.313000													44	16					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126369	58126369	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58126369G>A	ENST00000357377.3	-	1	173	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGAAAAAAGTACATGGGAG	0.443000													28	73					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714879	52714879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52714879G>A	ENST00000293670.3	-	1	303	c.241C>T	c.(241-243)Cca>Tca	p.P81S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	81	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGATGCATGGGGGGCTGGGT	0.692000													45	92					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390425	197390425	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:197390425G>A	ENST00000367400.3	+	6	1602	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.E188E|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.E377E|CRB1_ENST00000538660.1_Silent_p.E489E|CRB1_ENST00000535699.1_Silent_p.E420E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	489	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						TTTCATTTGAGGGCGATGGCT	0.522000													46	65					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9495542	9495542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9495542C>T	ENST00000246070.2	+	1	535	c.43C>T	c.(43-45)Cga>Tga	p.R15*	LAMP5_ENST00000427562.2_Nonsense_Mutation_p.R15*|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	15						integral to membrane											CGACAGACTTCGAGTTCTCCT	0.567000													14	42					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176300	63176300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63176300C>T	ENST00000279178.3	+	9	1799	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	517					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCTCCTTCCTGAAACCAGG	0.502000													39	93					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97185327	97185327	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97185327G>A	ENST00000514100.1	+	4	312		c.e4+1		EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000442602.2_Intron|EPHA6_ENST00000502694.1_Splice_Site	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6							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						attgcctcaggtaactgaaaa	0.408000													20	49					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274421	74274421	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74274421C>T	ENST00000409262.3	+	1	972	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	324							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCGATCCCATGGCTGAAC	0.617000													7	79					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29578107	29578107	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:29578107G>A	ENST00000375500.3	+	1	118	c.61G>A	c.(61-63)Gac>Aac	p.D21N		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TTCTTCCGCAGACTCAACTGA	0.517000													5	30					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111933198	111933198	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:111933198G>C	ENST00000280346.6	+	14	2542	c.1883G>C	c.(1882-1884)gGa>gCa	p.G628A	DLAT_ENST00000537636.1_Missense_Mutation_p.G399A|DLAT_ENST00000393051.1_Missense_Mutation_p.G523A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	628	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GGAGCAGTTGGAGCCCAGTGG	0.408000													7	112					0	0	1	0	0
CHCHD6	84303	broad.mit.edu	37	3	126451940	126451940	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126451940G>A	ENST00000508789.1	+	4	358	c.286G>A	c.(286-288)Gct>Act	p.A96T	CHCHD6_ENST00000290913.3_Missense_Mutation_p.A96T			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	96										endometrium(2)|large_intestine(3)|lung(3)	8						GGAGCATGCTGCTATCCAGGA	0.552000													26	38					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328829	3328829	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3328829G>A	ENST00000378398.3	+	10	2153	c.2071G>A	c.(2071-2073)Ggg>Agg	p.G691R	PRDM16_ENST00000514189.1_Missense_Mutation_p.G691R|PRDM16_ENST00000378391.2_Missense_Mutation_p.G690R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G691R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G690R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G690R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G690R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	690	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCGCCGCCGGGGACTCCAT	0.642000			T	EVI1	"""MDS, AML"""								44	107					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111709259	111709259	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:111709259C>T	ENST00000435970.1	-	10	1474	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	REV3L_ENST00000368802.3_Missense_Mutation_p.E298K|REV3L_ENST00000368805.1_Missense_Mutation_p.E298K|REV3L_ENST00000358835.3_Missense_Mutation_p.E298K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	298					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTTTTTTTCACTTTCTGTT	0.289000								DNA polymerases (catalytic subunits)					18	69					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62732416	62732416	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62732416T>A	ENST00000371153.4	-	6	2685	c.2307A>T	c.(2305-2307)acA>acT	p.T769T	KANK4_ENST00000354381.3_Silent_p.T141T|KANK4_ENST00000371150.1_Silent_p.T125T	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	769										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGAGCTGGTCTGTGGTGGTCC	0.423000													26	101					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276873	103276873	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103276873G>A	ENST00000428762.1	-	18	2271	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	RELN_ENST00000424685.2_Silent_p.S704S|RELN_ENST00000343529.5_Silent_p.S704S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	704					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAATGTCTGGGATGCCATCT	0.433000													13	62					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065922	23065922	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23065922C>T	ENST00000246006.4	-	1	1055	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	303	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAAGGGTTTCGAGAGGCACA	0.652000													56	131					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947713	40947713	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40947713C>T	ENST00000313164.9	+	8	1107	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	250	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGTTACCAACTGCTGGTTGT	0.403000													17	31					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646545	69646545	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:69646545G>A	ENST00000370598.1	+	5	1824	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	335	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATCAAGGGTTTGCAATAA	0.468000													6	19					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12980107	12980107	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12980107G>A	ENST00000361079.2	+	4	1382	c.1299G>A	c.(1297-1299)ggG>ggA	p.G433G						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTTGGGGCTGAGCTGA	0.592000													68	134					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022381	64022381	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64022381C>T	ENST00000540288.1	+	4	361	c.258C>T	c.(256-258)atC>atT	p.I86I	PLCB3_ENST00000279230.6_Silent_p.I86I|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	86					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACCCCAAGATCCGGGAAGTTC	0.607000													25	46					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17898011	17898011	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:17898011A>T	ENST00000448223.2	-	14	1612	c.1343T>A	c.(1342-1344)aTt>aAt	p.I448N	SMC6_ENST00000402989.1_Missense_Mutation_p.I448N|SMC6_ENST00000381272.4_Missense_Mutation_p.I474N|SMC6_ENST00000351948.4_Missense_Mutation_p.I448N	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	448					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTTACTTAATTTTGCCATG	0.318000													5	123					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95725532	95725532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:95725532C>T	ENST00000376887.4	-	24	3058	c.2944G>A	c.(2944-2946)Gca>Aca	p.A982T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A935T|ABCC4_ENST00000474158.1_5'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	982	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TAGGACAGTGCCAAACCAACC	0.483000													7	50					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979678	240979678	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240979678C>T	ENST00000366565.1	-	11	1103	c.722G>A	c.(721-723)aGt>aAt	p.S241N	RGS7_ENST00000366563.1_Missense_Mutation_p.S241N|RGS7_ENST00000401882.1_Missense_Mutation_p.S188N|RGS7_ENST00000331110.7_Missense_Mutation_p.S215N|RGS7_ENST00000446183.2_Missense_Mutation_p.S157N|RGS7_ENST00000348120.2_Missense_Mutation_p.S188N|RGS7_ENST00000366564.1_Missense_Mutation_p.S241N|RGS7_ENST00000407727.1_Missense_Mutation_p.S241N|RGS7_ENST00000366562.4_Missense_Mutation_p.S241N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	241					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGGGTAGGACTGTGACTTCT	0.353000													70	184					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7067081	7067081	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7067081G>A	ENST00000456013.1	+	11	1448		c.e11-1		PTPN6_ENST00000318974.9_Splice_Site|PTPN6_ENST00000399448.1_Splice_Site|PTPN6_ENST00000447931.2_Splice_Site	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTCGGCTTAGGGAGACCTGA	0.607000													71	160					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070969	62070969	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62070969G>A	ENST00000354587.3	-	6	1085	c.909C>T	c.(907-909)tcC>tcT	p.S303S	KCNQ2_ENST00000370221.1_Silent_p.S303S|KCNQ2_ENST00000370226.1_Silent_p.S303S|KCNQ2_ENST00000359125.2_Silent_p.S303S|KCNQ2_ENST00000360480.3_Silent_p.S303S|KCNQ2_ENST00000344425.5_Silent_p.S303S|KCNQ2_ENST00000357249.2_Silent_p.S303S|KCNQ2_ENST00000370222.3_Silent_p.S303S|KCNQ2_ENST00000344462.3_Silent_p.S303S|KCNQ2_ENST00000430658.1_Silent_p.S303S|KCNQ2_ENST00000359689.1_Silent_p.S303S|KCNQ2_ENST00000370224.1_Silent_p.S303S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	303					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCGCGAAGAAGGAGACACCGA	0.637000													8	129					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67793024	67793024	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:67793024G>A	ENST00000335894.4	+	21	3090	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I	IQCH_ENST00000360277.4_3'UTR|IQCH_ENST00000546225.1_Missense_Mutation_p.M665I|IQCH_ENST00000358767.3_3'UTR|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	1008										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AAAACAAAATGAGATTTGAAG	0.343000													27	51					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025833	72025833	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:72025833C>T	ENST00000277942.5	-	2	329	c.322_splice	c.e2+1	p.G108_splice		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	108						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CCGCACTCACCAGTGATGAGG	0.527000													26	75					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201030461	201030461	+	Silent	SNP	G	G	A	rs150020550		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201030461G>A	ENST00000362061.3	-	25	3415	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	CACNA1S_ENST00000367338.3_Silent_p.F1063F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1063	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.F1063F(1)		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)	TGACAATGACGAAGCCCACAA	0.522000													7	103					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32298409	32298409	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:32298409G>A	ENST00000217398.3	-	3	449	c.347C>T	c.(346-348)tCc>tTc	p.S116F	PXMP4_ENST00000409299.3_Silent_p.F109F|PXMP4_ENST00000344022.3_Intron			Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	0						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACCCCCGAGGAAGGCCGCCA	0.557000													28	74					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1739053	1739053	+	Missense_Mutation	SNP	C	C	T	rs114631890	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:1739053C>T	ENST00000313288.4	+	9	1940	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	612						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACTGGACATTCCTGTAAGTCC	0.517000													13	45					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71834033	71834033	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:71834033C>T	ENST00000266674.5	+	1	484	c.173C>T	c.(172-174)tCg>tTg	p.S58L	LGR5_ENST00000540815.2_Missense_Mutation_p.S58L|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.S58L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	58	LRRNT.					integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTGGGGCTCTCGGAGCTGCCT	0.607000													25	65					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151900067	151900067	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151900067G>A	ENST00000355193.2	-	26	4262	c.4044C>T	c.(4042-4044)taC>taT	p.Y1348Y	KMT2C_ENST00000262189.6_Silent_p.Y1348Y					lysine (K)-specific methyltransferase 2C																		TCCTTTTTCGGTATCTCTTCT	0.318000													33	104					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216720	134216720	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134216720G>A	ENST00000359579.4	+	3	615	c.295G>A	c.(295-297)Gac>Aac	p.D99N	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	99					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GACCCTCAAGGACCTGAAGCT	0.463000													66	223					0	0	1	0	0
DESI2	51029	broad.mit.edu	37	1	244852603	244852603	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:244852603C>T	ENST00000302550.11	+	3	547	c.168C>T	c.(166-168)tcC>tcT	p.S56S	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	56	PPPDE peptidase.																TTGAAATTTCCCCAGGAAATG	0.328000													6	239					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853535	12853535	+	Silent	SNP	G	G	A	rs141929388		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12853535G>A	ENST00000332296.7	+	2	262	c.159G>A	c.(157-159)acG>acA	p.T53T		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	53										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGACTCTGACGGTGATGGTTC	0.552000													90	210					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645088	38645088	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38645088G>A	ENST00000254051.6	-	3	731	c.573C>T	c.(571-573)ccC>ccT	p.P191P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	191	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTGTCTCTCGGGGGACGTCTC	0.672000													15	130					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109126	21109126	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21109126G>A	ENST00000320704.3	-	1	724	c.725C>T	c.(724-726)tCt>tTt	p.S242F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGTACAGGTAGAGAAGGCCTT	0.527000													41	79					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503858	149503858	+	Missense_Mutation	SNP	G	G	A	rs144050370		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149503858G>A	ENST00000261799.4	-	14	2447	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	660	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAGGTGGGGCCCAAGGTGA	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	87					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235085	57235085	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57235085C>T	ENST00000335099.3	+	2	352	c.35C>T	c.(34-36)cCc>cTc	p.P12L	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.P12L|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.P12L	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	12					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCCACAGCTCCCGCCTCGGCC	0.687000													30	257					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47429135	47429135	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47429135G>A	ENST00000285039.7	-	21	2939	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	MYO5B_ENST00000324581.6_Silent_p.F21F	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	880	Arg-rich.|IQ 5.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGCCGCTGGAAGTGCCTGC	0.627000													24	47					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22054770	22054770	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:22054770C>T	ENST00000306385.5	+	15	2614	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	BMP1_ENST00000397816.3_Silent_p.F648F|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.F648F	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	648	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.F648F(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGTACGACTTCGTGGAGGTGC	0.587000													78	80					0	0	1	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197821	8197821	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8197821G>A	ENST00000380067.2	-	1	349	c.305C>T	c.(304-306)cCt>cTt	p.P102L	SLC25A35_ENST00000577745.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000580340.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000579192.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000396278.1_Missense_Mutation_p.P102L	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	102					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						GCTGCGGGCAGGACTGTGGGT	0.632000													37	45					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235656	3235656	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3235656G>A	ENST00000217939.6	-	6	6220	c.6066C>T	c.(6064-6066)gtC>gtT	p.V2022V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2022	Ig-like C2-type 4.					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)				CGCACTTATAGACGCCTCTGT	0.642000													16	37					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2441534	2441534	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2441534G>A	ENST00000378466.3	-	17	2013	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	PANK4_ENST00000435556.3_Silent_p.I628I	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	667					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCTCTGCCACGATGAGGGACT	0.657000													6	23					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257922	257922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:257922G>A	ENST00000360321.2	-	7	806	c.668C>T	c.(667-669)tCt>tTt	p.S223F	C20orf96_ENST00000400269.3_Missense_Mutation_p.S165F|C20orf96_ENST00000382369.5_Missense_Mutation_p.S188F	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	223										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GATCTGGACAGACTTGATGGA	0.557000													84	248					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74803670	74803670	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74803670C>T	ENST00000290536.5	-	6	961	c.845G>A	c.(844-846)aGa>aAa	p.R282K	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R282K|M1AP_ENST00000409585.1_Missense_Mutation_p.R282K	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GTCATCCATTCTCAAGGAGCC	0.488000													20	39					0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	5995170	5995170	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5995170C>T	ENST00000525219.2	-	7	879		c.e7-1		IL15RA_ENST00000534292.1_Splice_Site|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000379977.3_Splice_Site|IL15RA_ENST00000397248.2_Splice_Site|IL15RA_ENST00000397251.3_Splice_Site|IL15RA_ENST00000397250.2_Splice_Site|IL15RA_ENST00000528354.1_Splice_Site	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha						cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GGGAGTTTGCCTGCAAAGCAG	0.552000													22	64					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155548	155548	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:155548G>A	ENST00000283426.6	+	7	1180	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	377					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAACCCCAAGAACAGCCCAG	0.453000													29	74					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173675	100173675	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100173675G>A	ENST00000547776.2	-	6	820	c.821C>T	c.(820-822)tCt>tTt	p.S274F	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S274F	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	274						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AATCTGGAGAGATTTCTGAGA	0.343000													36	60					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5653171	5653171	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5653171C>T	ENST00000292123.5	+	10	1446	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SAFB_ENST00000538656.1_Missense_Mutation_p.R290C|SAFB_ENST00000433404.1_Missense_Mutation_p.R277C|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.R447C|SAFB_ENST00000454510.1_Missense_Mutation_p.R378C|SAFB_ENST00000592224.1_Missense_Mutation_p.R447C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	447	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTGGAGCTCGCTGTTACGG	0.537000													12	59					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349369	72349369	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72349369G>A	ENST00000389916.4	+	16	2287	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	717					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGTACTGGGGCCTGGCAGGC	0.627000													5	16					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828177	6828177	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6828177C>T	ENST00000304076.2	+	10	1112	c.1018C>T	c.(1018-1020)Ctc>Ttc	p.L340F	VAV1_ENST00000596764.1_Missense_Mutation_p.L308F|VAV1_ENST00000599806.1_Missense_Mutation_p.L285F|VAV1_ENST00000539284.1_Missense_Mutation_p.L243F|VAV1_ENST00000602142.1_Missense_Mutation_p.L340F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	340	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCACCTCCTTCTCCAGGTGCC	0.567000													25	52					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452762	123452762	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123452762G>A	ENST00000360772.3	-	11	1459	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	MYLK_ENST00000346322.5_Silent_p.L361L|MYLK_ENST00000475616.1_Silent_p.L361L|MYLK_ENST00000360304.3_Silent_p.L361L|MYLK_ENST00000359169.1_Silent_p.L361L			Q15746	MYLK_HUMAN	myosin light chain kinase	361					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGACCCCCAGGCCTGGTGCT	0.647000													72	143					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936738	15936738	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:15936738C>T	ENST00000504595.1	+	4	1400	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	307					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACCTGCGCCGCTGCGTCCG	0.647000													14	22					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381164	58381164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:58381164G>A	ENST00000371015.1	+	8	1710	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	PHACTR3_ENST00000541461.1_Missense_Mutation_p.E374K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E374K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E412K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E304K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E374K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E304K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	415						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCAAACAGGAACTAGAAGA	0.517000													97	198					0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31560496	31560496	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31560496C>T	ENST00000376073.4	-	1	266	c.3G>A	c.(1-3)atG>atA	p.M1I	NCR3_ENST00000491161.1_Intron|NCR3_ENST00000376071.4_Start_Codon_SNP_p.M1I|NCR3_ENST00000340027.5_Start_Codon_SNP_p.M1I|NCR3_ENST00000376072.3_Start_Codon_SNP_p.M1I	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	1					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GCATCCAGGCCATGTCGGAAG	0.587000													40	52					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765682	77765682	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77765682C>T	ENST00000521891.2	+	10	6973	c.6525C>T	c.(6523-6525)caC>caT	p.H2175H	ZFHX4_ENST00000455469.2_Silent_p.H2130H|ZFHX4_ENST00000050961.6_Silent_p.H2130H|ZFHX4_ENST00000518282.1_Silent_p.H2149H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTATCAAACACTGGTTTAGAA	0.363000										HNSCC(33;0.089)			57	82					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642560	207642560	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207642560A>T	ENST00000367057.3	+	5	989	c.800A>T	c.(799-801)aAa>aTa	p.K267I	CR2_ENST00000367058.3_Missense_Mutation_p.K267I|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.K267I|CR2_ENST00000367059.3_Missense_Mutation_p.K267I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	267	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCTTGGACCAAAATGCCAGTA	0.463000													9	193					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802365	167802365	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167802365C>T	ENST00000367848.1	-	25	3674	c.3177G>A	c.(3175-3177)aaG>aaA	p.K1059K	ADCY10_ENST00000367851.4_Silent_p.K1151K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.K998K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1151					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						TCAGCATTTTCTTGGCAAGCA	0.428000													16	427					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43539398	43539398	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43539398C>T	ENST00000400427.1	+	14	3217	c.2821C>T	c.(2821-2823)Ctg>Ttg	p.L941L	UMODL1_ENST00000408910.2_Silent_p.L885L|UMODL1_ENST00000408989.2_Silent_p.L1013L|UMODL1_ENST00000400424.1_Silent_p.L813L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	885						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GACCGTGCCTCTGCTGGAGGT	0.582000													92	233					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121156240	121156240	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:121156240G>A	ENST00000392870.2	+	4	624	c.295G>A	c.(295-297)Gga>Aga	p.G99R	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	99	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAAAAACTGGGAGAGAAAGG	0.418000													13	156					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26524815C>T	ENST00000456354.2	+	6	784	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000													149	332					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158977966	158977966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158977966C>T	ENST00000605860.1	+	8	717	c.671C>T	c.(670-672)tCc>tTc	p.S224F	UPP2_ENST00000409859.4_Missense_Mutation_p.S224F|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S167F			O95045	UPP2_HUMAN	uridine phosphorylase 2	167					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GCTGTAGACTCCTTCTTTAAG	0.408000													12	318					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073251	184073251	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184073251C>T	ENST00000265593.4	-	12	1408	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	CLCN2_ENST00000457512.1_Missense_Mutation_p.E413K|CLCN2_ENST00000423355.2_Missense_Mutation_p.E54K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E369K|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.E413K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	413						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TCTAGCTCCTCCACCAGGCCC	0.592000													37	85					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280680	73280680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:73280680C>T	ENST00000286657.4	-	4	549	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	171					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACTTTTTATCATTCCAGCCT	0.328000													30	67					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983414	31983414	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31983414G>A	ENST00000438447.1	+	3	1018	c.630G>A	c.(628-630)gcG>gcA	p.A210A	PDZD2_ENST00000282493.3_Silent_p.A210A			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCGAACTGCGAAAAAGGGGA	0.537000													55	101					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124389	142124389	+	RNA	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142124389T>C	ENST00000390376.2	-	0	88																											CTTCAGGATGTGGAATTTTGG	0.522000													5	237					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990920	166990920	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:166990920G>A	ENST00000367872.4	+	12	1377	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R347K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TACCCATCTAGGGCAAAAATT	0.378000													41	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542525	179542525	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179542525G>A	ENST00000589042.1	-	146	34338	c.34114C>T	c.(34114-34116)Cct>Tct	p.P11372S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11055S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10128S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11055	Glu-rich.|Pro-rich.						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)			TCTTCCTCAGGTAGAACTTCC	0.438000													5	208					0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817527	16817527	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:16817527C>T	ENST00000262067.4	+	4	850	c.417C>T	c.(415-417)acC>acT	p.T139T	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	139						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CAAATGACACCTGTCTGGCTG	0.378000													17	70					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102700110	102700110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102700110G>A	ENST00000361847.2	-	8	838	c.607C>T	c.(607-609)Cct>Tct	p.P203S	MOK_ENST00000519058.1_5'UTR|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.P173S|MOK_ENST00000522874.1_Missense_Mutation_p.P202S|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000561150.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	203	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										TTTACTCCAGGAAAGAGGGGC	0.498000													19	51					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777263	183777263	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183777263C>T	ENST00000318351.1	+	7	794	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	254						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)			CATCATAAACCTGCTGGTGCC	0.507000													47	78					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50062758	50062758	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:50062758T>C	ENST00000354234.4	+	12	2815	c.1909T>C	c.(1909-1911)Ttc>Ctc	p.F637L	SETDB2_ENST00000317257.8_Missense_Mutation_p.F649L	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	649	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTCGGCCGCTTCCTTAATGT	0.343000													37	46					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579669	82579669	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82579669T>A	ENST00000423517.2	-	6	10572	c.10235A>T	c.(10234-10236)aAg>aTg	p.K3412M	PCLO_ENST00000333891.8_Missense_Mutation_p.K3412M|PCLO_ENST00000437081.1_Missense_Mutation_p.K132M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3343					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						AGAACTTCTCTTTTTGGGTTG	0.418000													6	159					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36642417	36642417	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36642417C>T	ENST00000316156.4	+	7	1695	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	MAP7D1_ENST00000373151.2_Silent_p.L451L|MAP7D1_ENST00000373150.4_Silent_p.L419L|MAP7D1_ENST00000474796.1_3'UTR			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	451						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTGCCCGCCTCTCTGCCAGCA	0.647000													5	11					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902864	40902864	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40902864G>A	ENST00000324001.7	-	7	1665	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	465	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCTCTGGGAGTCGAACCT	0.602000													78	194					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162767649	162767649	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:162767649C>T	ENST00000367917.3	+	4	458	c.390C>T	c.(388-390)atC>atT	p.I130I	HSD17B7_ENST00000254521.3_Silent_p.I130I|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	130					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	GTGATAAGATCACTGCTGATG	0.408000													39	92					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8389246	8389246	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:8389246C>T	ENST00000381196.4	-	34	4915	c.4372G>A	c.(4372-4374)Gaa>Aaa	p.E1458K	PTPRD_ENST00000397617.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1458K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1436K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1458K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1048K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1051K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1048K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1445K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1052K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1051K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1458	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCTTTCTTCTAGTTTTGTC	0.388000										TSP Lung(15;0.13)			71	57					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542673	211542673	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211542673C>T	ENST00000233072.5	+	38	4663	c.4467C>T	c.(4465-4467)ttC>ttT	p.F1489F	CPS1_ENST00000430249.2_Silent_p.F1495F|CPS1_ENST00000451903.2_Silent_p.F1038F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1489					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGAGTCTTTTCCACTACAGGC	0.453000													82	208					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313988	25313988	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:25313988G>A	ENST00000524413.1	+	3	2183	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	THNSL1_ENST00000376356.4_Silent_p.Q612Q			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	612					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AACTTCAGCAGGATTTTGTAG	0.403000													29	86					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118944612	118944612	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:118944612C>T	ENST00000300793.6	+	8	1228	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	397					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTATGGAGACCATCTCTACAG	0.512000													18	10					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16314278	16314278	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16314278C>T	ENST00000291439.3	+	2	500	c.51C>T	c.(49-51)atC>atT	p.I17I	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Silent_p.I17I|AP1M1_ENST00000444449.2_Silent_p.I17I|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	17					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AGGTGCTCATCTGCCGGAACT	0.582000													27	38					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164666	85164666	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:85164666G>A	ENST00000448803.2	+	3	1532	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.G414R|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.G413R|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.G264R	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	414					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AACCCACACAGGAGAGAAACC	0.557000													34	92					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:33629411C>T	ENST00000380099.3	+	3	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P213S	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000													44	96					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873211	55873211	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55873211T>C	ENST00000313503.1	+	1	693	c.693T>C	c.(691-693)acT>acC	p.T231T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTAATTCCACTTCAGGAAAGC	0.368000										HNSCC(53;0.14)			4	145					0	0	1	0	0
SPINK9	643394	broad.mit.edu	37	5	147715223	147715223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147715223C>T	ENST00000377906.1	+	1	102	c.47C>T	c.(46-48)aCc>aTc	p.T16I	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	16						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTTGCAACCATGTTCAGT	0.448000													27	98					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920439	160920439	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160920439G>A	ENST00000368029.3	-	5	561	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	168	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCATGGGGGACTTGTTGG	0.567000													11	231					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86544108	86544108	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86544108G>A	ENST00000450689.2	-	13	1847	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	KIAA1324L_ENST00000297222.6_Silent_p.T314T|KIAA1324L_ENST00000444627.1_Silent_p.T554T|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.T387T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	554						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGATGATATGGGTGTAAGCTT	0.318000													13	108					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44495733	44495733	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44495733T>C	ENST00000270014.2	+	3	177	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	ZNF155_ENST00000407951.2_Missense_Mutation_p.F28L|ZNF155_ENST00000590615.1_Missense_Mutation_p.F17L	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	17	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGCTGTGGTCTTCACTGAGGA	0.532000													11	336					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199155	155199155	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155199155A>T	ENST00000460012.1	-	23	4927	c.4570T>A	c.(4570-4572)Tat>Aat	p.Y1524N	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.Y1524N|PLCH1_ENST00000340059.7_Missense_Mutation_p.Y1562N|PLCH1_ENST00000334686.6_Missense_Mutation_p.Y1524N|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1562					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTTTGAATATAGCACTTGG	0.517000													8	111					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664341	50664341	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50664341G>A	ENST00000439308.2	-	10	2357	c.1865C>T	c.(1864-1866)cCc>cTc	p.P622L	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P622L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	622					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGAGATCCGGGGGACAGGGAC	0.597000													7	85					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66272236	66272236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66272236C>T	ENST00000532677.1	+	17	2490	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	DPP3_ENST00000360510.2_Missense_Mutation_p.R678C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	678				I -> Y (in Ref. 4; BAA75785).	proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCCAACACTCGCCTTGAAGG	0.567000													6	118					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15117211	15117211	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:15117211A>G	ENST00000253699.3	-	13	1721	c.1108T>C	c.(1108-1110)Ttg>Ctg	p.L370L	ZFYVE20_ENST00000476527.2_Silent_p.L370L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	370	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AAACCAAGCAACTTTTCCTGC	0.438000													34	90					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156768152	156768152	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156768152T>G	ENST00000347377.6	+	23	3091	c.2660T>G	c.(2659-2661)cTc>cGc	p.L887R	CYFIP2_ENST00000435847.2_Missense_Mutation_p.L586R|CYFIP2_ENST00000442283.2_Silent_p.P171P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L691R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L887R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L912R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L861R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L812R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	912					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTATTACCTCTATGGATCC	0.453000													26	58					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46745058	46745058	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46745058C>T	ENST00000311907.5	+	6	605	c.549C>T	c.(547-549)atC>atT	p.I183I	F2_ENST00000530231.1_Silent_p.I183I	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	183	Kringle 1.			I -> T (in Ref. 9; AA sequence).	activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AATGCAGCATCCCTGTCTGTG	0.642000													12	19					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69670617	69670617	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69670617C>T	ENST00000194900.4	+	7	1364	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	DLG3_ENST00000374360.3_Silent_p.P323P			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	323					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)					TGTACGCTCCCCCTGACTACG	0.542000													18	16					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105122873	105122873	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:105122873C>T	ENST00000356362.2	-	8	1149	c.935G>A	c.(934-936)aGa>aAa	p.R312K	PUS7_ENST00000469408.1_Missense_Mutation_p.R312K	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	312					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GTGGGCAAGTCTTTGTGCAGT	0.358000													39	231					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212764	62212764	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:62212764C>T	ENST00000519846.1	+	3	850	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CLVS1_ENST00000325897.4_Silent_p.F126F|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	126	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCGATGGGTTCCCCGGGGTGC	0.483000													20	74					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18907227	18907227	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18907227C>T	ENST00000388995.6	-	2	351	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R43Q|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R43Q			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	43										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAAGGCGTCCCGGCCGCGGGC	0.642000													34	78					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31750013	31750013	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31750013G>A	ENST00000446923.2	+	2	446	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ZEB1_ENST00000320985.10_Missense_Mutation_p.E36K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E36K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E36K|ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	36					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTCAGATGATGAAGACAAACT	0.363000													16	57					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601864	24601864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24601864C>T	ENST00000267426.5	+	2	1000	c.711C>T	c.(709-711)ctC>ctT	p.L237L	FITM1_ENST00000559294.1_Silent_p.L41L	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	237					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TCTTGCTGCTCTGTACCGTCA	0.602000													55	105					0	0	1	0	0
TMEM11	8834	broad.mit.edu	37	17	21101932	21101932	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:21101932G>A	ENST00000317635.5	-	2	755	c.284C>T	c.(283-285)aCc>aTc	p.T95I	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	95					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCCAACGGGGTGAAGAGGCA	0.627000													17	48					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173338915	173338915	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:173338915C>T	ENST00000375221.2	+	7	1228	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	ITGA6_ENST00000409532.1_Missense_Mutation_p.P184L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P298L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P342L|ITGA6_ENST00000409080.1_Missense_Mutation_p.P303L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P303L			P23229	ITA6_HUMAN	integrin, alpha 6	342					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CATCTCCTCCCTGAGCACATA	0.488000													4	93					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259967	16259967	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16259967C>T	ENST00000375759.3	+	11	7436	c.7232C>T	c.(7231-7233)tCg>tTg	p.S2411L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2411	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACAGAGAATTCGTCCCAAGAA	0.547000													27	47					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100654152	100654152	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100654152C>T	ENST00000358544.2	+	34	5520	c.5409C>T	c.(5407-5409)atC>atT	p.I1803I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I1778I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1803					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGTTAAAATCAGAATAGTGC	0.433000													36	80					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28950207	28950207	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28950207G>A	ENST00000538922.1	+	14	1659	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	CD19_ENST00000324662.3_Missense_Mutation_p.E532K|CD19_ENST00000567541.1_Missense_Mutation_p.E533K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	532					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGACTCTTATGAGAACATGGA	0.612000													6	7					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691467	68691467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:68691467C>T	ENST00000283916.6	-	9	1176	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G243R	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	360	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCGTCCACTCCACCTTGAGGT	0.408000													19	49					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21657263	21657263	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21657263C>T	ENST00000328843.6	+	23	4168	c.4137C>T	c.(4135-4137)gtC>gtT	p.V1379V	DNAH11_ENST00000409508.3_Silent_p.V1374V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1379	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAAGGAAGTCCGCGTCTGGG	0.473000									Kartagener syndrome				10	36					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262954	35262954	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:35262954G>A	ENST00000262866.4	-	3	552	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	SLA2_ENST00000360672.2_Missense_Mutation_p.P44S	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	44	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCACCTGCCGGGAAACTGCCC	0.572000													22	51					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763153	44763153	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44763153C>T	ENST00000296091.4	+	4	1100	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAATACACACCTTATTCATCA	0.413000													14	365					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084687	53084687	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53084687G>A	ENST00000276480.7	-	10	1417	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	245						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)				GTTCTCACAAGGGATAAATTT	0.433000													7	116					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400607	40400607	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40400607G>A	ENST00000338305.6	-	2	788	c.246C>T	c.(244-246)acC>acT	p.T82T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	82						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)					TCCTGGACAGGGTCAGGTCCA	0.597000													22	73					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323340	29323340	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29323340G>A	ENST00000377154.1	-	4	932	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR5V1_ENST00000543825.1_Silent_p.F211F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATACAAAGGAAAGGAGTCC	0.478000													82	76					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668626	176668626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176668626C>T	ENST00000367662.3	+	8	4301	c.3137C>T	c.(3136-3138)tCt>tTt	p.S1046F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1046					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						CCCTTGTGCTCTGGCTGCAGG	0.562000													53	172					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577297	109577297	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109577297C>T	ENST00000338432.7	+	2	206	c.87C>T	c.(85-87)tcC>tcT	p.S29S	ACACB_ENST00000377848.3_Silent_p.S29S|ACACB_ENST00000377854.5_Silent_p.S29S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	29					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGACGGACTCCAAGCCGATCA	0.473000													37	131					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492087	107492087	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:107492087C>T	ENST00000415149.2	+	11	1846	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	BBX_ENST00000402543.1_Missense_Mutation_p.P507S|BBX_ENST00000325805.8_Missense_Mutation_p.P507S|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.P507S	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	507	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGGAGATACCCCTCGCAAGAA	0.453000													52	82					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348579	124348579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124348579G>A	ENST00000338354.3	+	17	2009	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D625N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D625N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D635N|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	635	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612000													61	571					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234247373	234247373	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234247373G>A	ENST00000409110.1	+	12	1226	c.996G>A	c.(994-996)caG>caA	p.Q332Q	SAG_ENST00000449594.2_Silent_p.Q198Q	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	332					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TGTCTTACCAGATCAAGGTGA	0.532000													50	93					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47260076	47260076	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:47260076C>T	ENST00000311191.6	+	5	951	c.722C>T	c.(721-723)tCc>tTc	p.S241F	LRCH1_ENST00000389797.3_Missense_Mutation_p.S241F|LRCH1_ENST00000389798.3_Missense_Mutation_p.S241F	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	241										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTTGACTTTTCCTGCAACAAA	0.348000													17	42					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97486014	97486014	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97486014G>T	ENST00000175506.4	-	9	1546	c.1018C>A	c.(1018-1020)Cgt>Agt	p.R340S	ASNS_ENST00000394309.3_Missense_Mutation_p.R340S|ASNS_ENST00000444334.1_Missense_Mutation_p.R319S|ASNS_ENST00000455086.1_Missense_Mutation_p.R257S|ASNS_ENST00000422745.1_Missense_Mutation_p.R319S|ASNS_ENST00000394308.3_Missense_Mutation_p.R340S|ASNS_ENST00000437628.1_Missense_Mutation_p.R257S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781).	cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTGAAGCACGAACTGTTGTA	0.303000													40	153					8.16277e-20	8.24467e-20	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2676878	2676878	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:2676878C>T	ENST00000399655.1	+	13	2078	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	CACNA1C_ENST00000399644.1_Silent_p.L605L|CACNA1C_ENST00000399638.1_Silent_p.L605L|CACNA1C_ENST00000406454.3_Silent_p.L605L|CACNA1C_ENST00000399621.1_Silent_p.L605L|CACNA1C_ENST00000480911.1_Silent_p.L605L|CACNA1C_ENST00000335762.5_Silent_p.L630L|CACNA1C_ENST00000399601.1_Silent_p.L605L|CACNA1C_ENST00000399641.1_Silent_p.L605L|CACNA1C_ENST00000399591.1_Silent_p.L605L|CACNA1C_ENST00000399603.1_Silent_p.L605L|CACNA1C_ENST00000327702.7_Silent_p.L605L|CACNA1C_ENST00000399629.1_Silent_p.L605L|CACNA1C_ENST00000399637.1_Silent_p.L605L|CACNA1C_ENST00000344100.3_Silent_p.L605L|CACNA1C_ENST00000399597.1_Silent_p.L605L|CACNA1C_ENST00000399617.1_Silent_p.L605L|CACNA1C_ENST00000402845.3_Silent_p.L605L|CACNA1C_ENST00000399649.1_Silent_p.L605L|CACNA1C_ENST00000399595.1_Silent_p.L605L|CACNA1C_ENST00000399634.1_Silent_p.L605L|CACNA1C_ENST00000347598.4_Silent_p.L605L|CACNA1C_ENST00000399606.1_Silent_p.L605L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	605					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAGACCATCCTGGTGGAGAC	0.587000													12	20					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306008	132306008	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:132306008C>T	ENST00000331898.7	-	6	1487	c.909G>A	c.(907-909)ggG>ggA	p.G303G	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.G303G|OPCML_ENST00000374778.4_Silent_p.G262G|OPCML_ENST00000524381.1_Silent_p.G296G	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	303	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATTGGTGTTCCCAAGCTTGT	0.498000													26	28					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505395	32505395	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32505395C>T	ENST00000520502.2	+	1	159	c.159C>T	c.(157-159)ggC>ggT	p.G53G	NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GACTCGTGGGCCTGGCCGTGC	0.597000													4	103					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767265	105767265	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:105767265G>A	ENST00000374798.3	+	5	422	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	CYLC2_ENST00000487798.1_Missense_Mutation_p.G118S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	118	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGTAAGAAAGGTGAAGACAA	0.299000													25	70					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726474	39726474	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:39726474G>A	ENST00000395670.3	-	20	3194	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	KIF21A_ENST00000361418.5_Silent_p.L925L|KIF21A_ENST00000541463.2_Silent_p.L889L|KIF21A_ENST00000544797.2_Silent_p.L912L|KIF21A_ENST00000361961.3_Silent_p.L912L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	925					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCGCTCAAGGAGCTGCCACT	0.428000													46	104					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172634134	172634134	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172634134C>T	ENST00000351008.3	-	9	1659	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	492					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.Q492Q(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GACTGATGTCCTGTAGGTAGG	0.463000													94	185					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048150	58048150	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:58048150C>T	ENST00000556826.1	-	4	825	c.587_splice	c.e4-1	p.E197_splice	SLC35F4_ENST00000339762.6_Splice_Site_p.E233_splice|SLC35F4_ENST00000554729.1_Splice_Site_p.E74_splice	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGACTGCATTCCCTAGGAAAG	0.398000													9	13					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939225	2939225	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2939225G>A	ENST00000378404.2	+	1	1180	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	325						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGGCCTCCAAGGACACCCCCA	0.602000													6	163					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9270837	9270837	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9270837C>T	ENST00000247956.6	+	7	821	c.516C>T	c.(514-516)ttC>ttT	p.F172F	ZNF317_ENST00000360385.3_Silent_p.F140F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CTCACTTGTTCGAAGTCTTTG	0.517000													13	53					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634274	70634274	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70634274C>T	ENST00000381269.2	-	2	1619	c.866G>A	c.(865-867)gGg>gAg	p.G289E	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G289E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G289E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G289E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G289E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	289					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATCATTTTCCCATCCATCTC	0.473000													25	79					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62149262	62149262	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:62149262C>T	ENST00000280772.1	-	1	226	c.35G>A	c.(34-36)aGg>aAg	p.R12K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	12					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						TTCTAAATCCCTGTTTTTCTT	0.428000													38	105					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581100	158581100	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158581100G>A	ENST00000368148.3	-	52	7394	c.7214C>T	c.(7213-7215)tCt>tTt	p.S2405F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S2402F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2405				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	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)					GTCATAGCCAGAGAGATGGCT	0.458000													7	95					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545710	82545710	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82545710G>A	ENST00000423517.2	-	7	11929	c.11592C>T	c.(11590-11592)ttC>ttT	p.F3864F	PCLO_ENST00000333891.8_Silent_p.F3864F|PCLO_ENST00000437081.1_Silent_p.F584F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3795	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAACTGGCTGAATTCAGTTT	0.468000													179	397					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829005	61829005	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61829005C>T	ENST00000280772.1	-	37	11825	c.11634G>A	c.(11632-11634)ccG>ccA	p.P3878P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3878					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						ACATATGGTTCGGTGGGAAGG	0.388000													114	273					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57328102C>T	ENST00000326441.9	-	10	2071	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E444K|PEG3_ENST00000598410.1_Missense_Mutation_p.E446K|PEG3_ENST00000423103.2_Missense_Mutation_p.E570K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	570					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448000													48	85					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65822558	65822558	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65822558T>A	ENST00000528302.1	+	4	324	c.270T>A	c.(268-270)atT>atA	p.I90I	SF3B2_ENST00000322535.6_Silent_p.I90I			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	90					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCTGGAATTCCCATGCCAC	0.542000													58	136					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037641	48037641	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:48037641C>T	ENST00000295461.5	+	6	751	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	229						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GATTGTGGCTCCCAAGAAAGG	0.378000													75	125					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18348721	18348721	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:18348721G>A	ENST00000251900.4	-	3	236	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	26					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTGTACAGAAGATGTACTTGA	0.328000													41	15					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128901613	128901613	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:128901613C>T	ENST00000371106.3	+	20	1967	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	592					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAAGTGGTATCATTTGTGCCC	0.577000													68	32					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109553608	109553608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109553608G>A	ENST00000357672.3	-	4	1351	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q354*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.Q326*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q354*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q361*			O94967	WDR47_HUMAN	WD repeat domain 47	354										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTGAGGTTTTGTACCCCTGGA	0.393000													70	226					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52981423	52981423	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52981423C>T	ENST00000293745.2	-	7	1387	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	KRT72_ENST00000354310.4_Silent_p.E392E|KRT72_ENST00000537672.2_Silent_p.E434E|KRT72_ENST00000398066.3_Silent_p.E246E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	434	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACCTGCACTCCTCGCTCTCCA	0.582000													36	142					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303627	36303627	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36303627C>T	ENST00000301175.3	-	2	326	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	103					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGGAAGGCCCCGCCATCAA	0.652000													18	43					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166960340	166960340	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:166960340G>A	ENST00000392766.2	-	20	2569	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	ZBBX_ENST00000392764.1_Silent_p.F714F|ZBBX_ENST00000307529.5_Silent_p.F782F|ZBBX_ENST00000455345.2_Silent_p.F782F|ZBBX_ENST00000392767.2_Silent_p.F743F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	743						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGGTCTTAAGGAAATCTGTGG	0.368000													31	65					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73999327	73999327	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73999327C>T	ENST00000425876.2	+	6	728	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R214C			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	214	Protein kinase.		R -> H (in dbSNP:rs34670267).		cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCAGCTCTTTCGTATCTTTCG	0.542000													153	431					0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16510579	16510579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:16510579G>A	ENST00000535309.1	+	3	206	c.167G>A	c.(166-168)gGa>gAa	p.G56E	MGST1_ENST00000396209.1_Missense_Mutation_p.G56E|MGST1_ENST00000540056.1_Intron|MGST1_ENST00000396210.3_Missense_Mutation_p.G56E|MGST1_ENST00000396207.1_Missense_Mutation_p.G56E|MGST1_ENST00000010404.2_Missense_Mutation_p.G56E	NM_001267598.1	NP_001254527.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	56					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	p.G56V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TTTGGCAAAGGAGAAAATGCC	0.373000													18	36					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409939	98409939	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98409939G>A	ENST00000186436.5	-	30	3692	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1155						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGCCTCAAAGGATAGCCGCCT	0.468000													4	61					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959764	157959764	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157959764G>A	ENST00000389413.3	-	6	872	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P280S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P240S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P219S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P257S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	257						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCCCGGGGGGAGCTGGGGGC	0.657000													13	28					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075061	18075061	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18075061C>T	ENST00000205890.5	+	63	10530	c.10192C>T	c.(10192-10194)Cac>Tac	p.H3398Y	MYO15A_ENST00000451725.2_Silent_p.P191P|MYO15A_ENST00000418233.3_Missense_Mutation_p.H662Y	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3398	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCAGCCCCCACCAGGCCCG	0.637000													25	51					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81638748	81638748	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:81638748C>T	ENST00000558726.1	-	12	1368	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L410L			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	410						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCAATGATCAGGCTGTAGA	0.522000													13	19					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2686498	2686498	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2686498C>T	ENST00000258796.7	+	2	340	c.135C>T	c.(133-135)ctC>ctT	p.L45L	TTYH3_ENST00000407643.1_Silent_p.L45L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	45						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCCTGCTGCTCCTGGGGGCCG	0.726000													13	38					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814031	106814031	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:106814031G>A	ENST00000407775.2	+	8	1971	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R442Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R305Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R442Q|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	574					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R574Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCAGCAGCCGATGGCAGCAG	0.448000													92	159					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949942	118949942	+	Missense_Mutation	SNP	G	G	A	rs113943017		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:118949942G>A	ENST00000328252.3	+	2	1294	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	309	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCCAAAGTGGAATTCAGCAA	0.567000													34	83					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49762724	49762724	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:49762724C>T	ENST00000492622.2	+	17	2204	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	FNDC3A_ENST00000541916.1_Silent_p.F633F|FNDC3A_ENST00000398316.3_Silent_p.F577F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	633	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAGGCTGTTTCTATCGTTTAC	0.403000													96	215					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278564	50278564	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50278564G>A	ENST00000442544.2	+	2	848	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	78	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGAAAGATGGCATTCATCT	0.502000													35	54					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113170491G>A	ENST00000401783.2	-	38	7725	c.7389C>T	c.(7387-7389)ctC>ctT	p.L2463L	SVEP1_ENST00000374469.1_Silent_p.L2440L|SVEP1_ENST00000297826.5_Silent_p.L389L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478000													17	44					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30974111	30974111	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:30974111G>A	ENST00000295055.8	-	11	1270	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	CAPN13_ENST00000534090.2_Missense_Mutation_p.P365L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	365					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATCATTCCGAGGTCCTCCTGC	0.512000													9	27					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187159437	187159437	+	Silent	SNP	C	C	T	rs139178458		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187159437C>T	ENST00000264690.6	+	6	703	c.516C>T	c.(514-516)ccC>ccT	p.P172P	KLKB1_ENST00000513864.1_Silent_p.P172P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	172	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.P172P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGTACAGTCCCGGAGGAACAC	0.458000													25	88					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978452	247978452	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247978452C>T	ENST00000357627.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGTGCAATTTCTCTTATTAAA	0.383000													35	88					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100184267	100184267	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100184267C>T	ENST00000241071.6	+	1	341	c.19C>T	c.(19-21)Cct>Tct	p.P7S	FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000360609.2_Missense_Mutation_p.P7S|FBXO24_ENST00000465843.1_Missense_Mutation_p.P7S	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	7						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAGGCGGTCCCTTTGCTAAG	0.577000													37	104					0	0	1	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779212	12779212	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12779212G>A	ENST00000596731.1	-	4	2234	c.282C>T	c.(280-282)tcC>tcT	p.S94S	WDR83_ENST00000418543.3_Intron|WDR83OS_ENST00000222190.5_Silent_p.S92S|CTD-2192J16.24_ENST00000597961.1_Intron	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	94						integral to membrane											TCTGCAGATAGGACATCACCA	0.572000													8	15					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67843957	67843957	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:67843957G>A	ENST00000255674.6	-	11	1716	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	RTTN_ENST00000437017.1_Missense_Mutation_p.S477F|RTTN_ENST00000454359.1_Missense_Mutation_p.S477F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	477							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)				TGCAAACAGGGAAATGCTGAT	0.443000													56	116					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44160772	44160772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44160772G>A	ENST00000221264.4	-	4	757	c.331C>T	c.(331-333)Cga>Tga	p.R111*	PLAUR_ENST00000340093.3_Nonsense_Mutation_p.R111*|PLAUR_ENST00000339082.3_Nonsense_Mutation_p.R111*|PLAUR_ENST00000601723.1_Nonsense_Mutation_p.R111*	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	111	UPAR/Ly6 1.	Cleavage; by U-PA.			attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TAACGGCTTCGGGAATAGGTG	0.592000													4	100					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112917322	112917322	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:112917322C>T	ENST00000161863.4	+	25	3776	c.3563C>T	c.(3562-3564)cCt>cTt	p.P1188L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1188							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAGAGCTTCCTTTGGCCTCA	0.403000													26	43					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86238072	86238072	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:86238072G>A	ENST00000314673.3	-	20	2079	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.P626S|SNX14_ENST00000346348.3_Missense_Mutation_p.P582S|SNX14_ENST00000505648.1_Missense_Mutation_p.P583S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	635	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TGGGCATCAGGAAATGCACCT	0.323000													7	143					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528065	155528065	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:155528065G>A	ENST00000404648.3	-	8	1160	c.921C>T	c.(919-921)ttC>ttT	p.F307F	FGG_ENST00000405164.1_Silent_p.F315F|FGG_ENST00000407946.1_Silent_p.F315F|FGG_ENST00000336098.3_Silent_p.F307F	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	307	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCCCACCAGCGAAGTAGGCAT	0.468000													51	80					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068133	5068133	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5068133G>A	ENST00000380370.1	+	1	378	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCGTTATGTGGCCGTCTGTG	0.478000													28	23					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914489	147914489	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147914489G>A	ENST00000361727.3	+	19	3636	c.3120G>A	c.(3118-3120)caG>caA	p.Q1040Q	CNTNAP2_ENST00000538075.1_Silent_p.Q99Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1040					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGACCAGCAGAACTCCCACC	0.542000										HNSCC(39;0.1)			13	249					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22811976	22811976	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:22811976C>T	ENST00000266517.4	+	3	801	c.712C>T	c.(712-714)Cat>Tat	p.H238Y		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	238				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTAAAATCCATGCTATTCA	0.378000													29	83					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71932088	71932088	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71932088C>T	ENST00000449475.2	+	3	674	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	FOLR2_ENST00000454954.2_Missense_Mutation_p.P68S|FOLR2_ENST00000298223.6_Missense_Mutation_p.P109S			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	109					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CAACCTGGGGCCCTGGATCCA	0.617000													17	32					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28948826	28948826	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28948826G>A	ENST00000538922.1	+	10	1416	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CD19_ENST00000324662.3_Missense_Mutation_p.E452K|CD19_ENST00000567541.1_Missense_Mutation_p.E452K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	452					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TCCTGAGGATGAAGACTCCTT	0.587000													7	138					0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132482910	132482910	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:132482910G>A	ENST00000372469.4	+	3	710	c.483G>A	c.(481-483)agG>agA	p.R161R		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	161						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGTTCCGCAGGAATGAAAGGG	0.682000													16	169					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151355699	151355699	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:151355699C>T	ENST00000367321.3	+	25	2931	c.2657C>T	c.(2656-2658)cCt>cTt	p.P886L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	886	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAACTCTCTCCTGAGGCACAA	0.388000													8	79					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774648	52774648	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:52774648C>T	ENST00000216862.3	-	9	1606	c.1213G>A	c.(1213-1215)Ggt>Agt	p.G405S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.G263S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.G405S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	405					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCATATTCACCCAGAACTGTT	0.383000													11	66					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10503964	10503964	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10503964G>A	ENST00000222005.2	-	6	933	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	294					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		ACCTCGACGGGGTCCAGGCCG	0.721000													7	75					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78486298	78486298	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78486298G>A	ENST00000258873.4	-	4	723	c.518C>T	c.(517-519)tCg>tTg	p.S173L	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	173					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCCCACTGCCGAGAAGAACCA	0.647000													16	46					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525658	248525658	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248525658G>A	ENST00000366475.1	+	1	776	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	259					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)			ACCATCCACGGGATGAACTCA	0.512000													12	181					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626849	187626849	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:187626849C>T	ENST00000304698.5	+	8	1983	c.1780C>T	c.(1780-1782)Cat>Tat	p.H594Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	594						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTCATTCTCATGCACAGCC	0.478000													38	65					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475556	140475556	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140475556C>T	ENST00000194155.4	+	1	1330	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		394	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTTTTTTCTTGAAACCTT	0.493000													23	63					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143099	41143099	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41143099G>A	ENST00000263413.3	-	18	2897	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	C6_ENST00000337836.5_Missense_Mutation_p.S878F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	878	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GACACATTTGGAAGTGGAGGC	0.463000													24	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841240	13841240	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13841240C>T	ENST00000265104.4	-	34	5589		c.e34-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					ATAATCCAACCTTATGGAAAT	0.318000									Kartagener syndrome				19	32					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6016249	6016249	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6016249C>T	ENST00000303657.5	-	7	780	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	RFX2_ENST00000592546.1_Missense_Mutation_p.E186K|RFX2_ENST00000359161.3_Missense_Mutation_p.E211K|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCACACCTTCCGCTGTTTCA	0.512000													23	65					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47300033	47300033	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47300033G>A	ENST00000225941.1	+	8	1555	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	ABI3_ENST00000419580.2_Missense_Mutation_p.G347R	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	353	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CAGCTCAGAGGGGACTGGATT	0.602000										HNSCC(55;0.14)			9	25					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19916844	19916844	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19916844G>A	ENST00000443905.2	-	3	369	c.222C>T	c.(220-222)ccC>ccT	p.P74P	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Silent_p.P74P|ZNF506_ENST00000587452.1_Silent_p.P74P|ZNF506_ENST00000587461.1_Silent_p.P74P|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Silent_p.P74P|ZNF506_ENST00000450683.2_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACCTACCTGGGGGTTTGGCAA	0.423000													11	189					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766803	38766803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38766803C>T	ENST00000449082.2	-	17	3089	c.3090G>A	c.(3088-3090)caG>caA	p.Q1030Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1030					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCTGCTCCTGCTAGTGAG	0.582000													18	42					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36640647	36640647	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36640647T>G	ENST00000587718.1	+	10	954	c.889T>G	c.(889-891)Tgg>Ggg	p.W297G	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000246533.3_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000588780.1_Intron|CAPNS1_ENST00000588815.1_Intron			P04632	CPNS1_HUMAN	calpain, small subunit 1	0					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGCCGTCCCTGGGTGAGGGC	0.607000													26	37					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896886	52896886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:52896886G>A	ENST00000371544.3	-	28	4769	c.4507C>T	c.(4507-4509)Ccg>Tcg	p.P1503S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1504S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1503	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGCCAGGACGGGGCAGGGATC	0.552000													31	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002184	9002184	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9002184G>A	ENST00000397910.4	-	52	40523	c.40320C>T	c.(40318-40320)ttC>ttT	p.F13440F	MUC16_ENST00000380951.5_Silent_p.F81F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13442					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F13440F(1)|p.F125F(1)		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						TCTGATGGGTGAAACCTGCAT	0.507000													14	33					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6197560	6197560	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6197560C>T	ENST00000264870.3	-	9	1378		c.e9-1			NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGGTAGTTCCTTAGAAAACA	0.512000													18	73					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194159638	194159638	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:194159638G>A	ENST00000439040.1	-	17	2565	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R592C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	592					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTGGGAGGACGAACCACTGTG	0.378000													41	100					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55266457	55266457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55266457G>A	ENST00000275493.2	+	23	2926	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	EGFR_ENST00000455089.1_Missense_Mutation_p.G872R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G864R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	917	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCCATATGACGGAATCCCTGC	0.498000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	87					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329604	152329604	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152329604C>T	ENST00000388718.5	-	3	730	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	220	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACTCCTCCCCAGATTCCCTA	0.458000													130	191					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045742	124045742	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124045742G>A	ENST00000368994.2	+	5	618	c.367G>A	c.(367-369)Gag>Aag	p.E123K	BTBD16_ENST00000260723.4_Missense_Mutation_p.E122K			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	122										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCCCCTGAGGGAGCTGGAGGA	0.597000													82	131					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7914195	7914195	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7914195C>T	ENST00000270530.4	+	5	802	c.606C>T	c.(604-606)atC>atT	p.I202I	EVI5L_ENST00000538904.2_Silent_p.I202I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	202	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCCTTCATCGTGGGCCTGC	0.647000													22	56					0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99379391	99379391	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:99379391G>A	ENST00000307450.6	-	2	183	c.20C>T	c.(19-21)tCc>tTc	p.S7F	MORN4_ENST00000370635.3_Missense_Mutation_p.S7F|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_Missense_Mutation_p.S7F|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	7										large_intestine(1)|lung(1)|stomach(2)	4						GTAGGTGAAGGAACCTTTTGT	0.488000													32	67					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694495	99694495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:99694495G>A	ENST00000354649.3	+	2	1223	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.V170M	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGCCCCCATCGTGTCCCCAGG	0.697000													36	122					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918652	106918652	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:106918652C>T	ENST00000369701.3	+	11	1859	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	544						integral to membrane	neuropeptide receptor activity	p.P544P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATTTTAGCCCTTCTGTTCCT	0.478000													27	54					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598980	45598980	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:45598980G>A	ENST00000336156.4	-	7	808	c.743C>T	c.(742-744)cCc>cTc	p.P248L	KIAA0930_ENST00000251993.7_Missense_Mutation_p.P253L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.P230L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.P214L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	248							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTTGCCCTGGGGGCCCTTCAT	0.637000													115	242					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6621426	6621426	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6621426C>A	ENST00000254605.6	-	7	1438	c.1321G>T	c.(1321-1323)Gct>Tct	p.A441S	RRP8_ENST00000534343.1_Missense_Mutation_p.A125S	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	441					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GAAAGCTGAGCCTTGGGCCCT	0.537000													4	70					0.00909568	0.0091096	1	1	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172241118G>A	ENST00000241261.2	-	1	179	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_ENST00000420541.2_Silent_p.I19I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000													34	84					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79336073	79336073	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:79336073G>A	ENST00000350881.2	+	2	452	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	88	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAATATTTTGAATTTACTGT	0.358000													15	27					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38262214	38262214	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38262214C>T	ENST00000392138.1	-	2	362	c.24G>A	c.(22-24)ctG>ctA	p.L8L	ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000590414.2_Silent_p.L64L			Q86YE8	ZN573_HUMAN	zinc finger protein 573	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCAGTGATACCAGGTTTCTAT	0.408000													12	36					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84520283	84520283	+	Silent	SNP	G	G	A	rs145452661	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:84520283G>A	ENST00000343629.6	-	5	1094	c.912C>T	c.(910-912)ttC>ttT	p.F304F	TLDC1_ENST00000535580.1_Silent_p.F277F	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CAAACCCACCGAACACATGCT	0.572000													7	72					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932187	41932187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41932187G>A	ENST00000321702.2	-	3	950	c.497C>T	c.(496-498)gCc>gTc	p.A166V	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	166					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CTCTCTCACGGCCTGTCGTTC	0.622000													48	101					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136788	80136788	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:80136788G>A	ENST00000466387.1	+	11	1645	c.921G>A	c.(919-921)ctG>ctA	p.L307L	CTNNA2_ENST00000496558.1_Silent_p.L307L|CTNNA2_ENST00000541047.1_Silent_p.L307L|CTNNA2_ENST00000361291.4_Silent_p.L341L|CTNNA2_ENST00000402739.4_Silent_p.L307L|CTNNA2_ENST00000540488.1_Silent_p.L307L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	307					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGAGAGGCTGGAGAGCATCA	0.612000													5	167					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965812	35965812	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35965812C>T	ENST00000274278.3	-	4	876	c.519G>A	c.(517-519)ttG>ttA	p.L173L	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.L139L|UGT3A1_ENST00000333811.4_Silent_p.L119L|UGT3A1_ENST00000503189.1_Silent_p.L173L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	173						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCCAAAATCCAAAGAGCCGA	0.443000													5	105					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987394	123987394	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123987394G>A	ENST00000369005.1	+	14	8107	c.7767G>A	c.(7765-7767)gcG>gcA	p.A2589A	TACC2_ENST00000369004.3_Silent_p.A679A|TACC2_ENST00000368999.1_Silent_p.A679A|TACC2_ENST00000358010.1_Silent_p.A735A|TACC2_ENST00000515603.1_Silent_p.A2544A|TACC2_ENST00000369001.1_Silent_p.A293A|TACC2_ENST00000260733.3_Silent_p.A667A|TACC2_ENST00000334433.3_Silent_p.A2589A|TACC2_ENST00000515273.1_Silent_p.A2593A|TACC2_ENST00000513429.1_Silent_p.A735A|TACC2_ENST00000360561.3_Silent_p.A667A|TACC2_ENST00000369000.1_Silent_p.A289A|TACC2_ENST00000453444.2_Silent_p.A2593A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2589						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACACTGCTGCGAAAAACCAGC	0.522000													57	125					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48547540	48547540	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:48547540C>T	ENST00000435803.1	+	50	13443	c.13419C>T	c.(13417-13419)atC>atT	p.I4473I	ABCA13_ENST00000544596.1_Silent_p.I203I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4473					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGCATCCATCGGCAGCTCTG	0.557000													21	27					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127295531	127295531	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:127295531C>T	ENST00000355552.3	-	6	803	c.427G>A	c.(427-429)Gag>Aag	p.E143K	TPRA1_ENST00000296210.7_Missense_Mutation_p.E143K|TPRA1_ENST00000489960.1_Missense_Mutation_p.E143K|TPRA1_ENST00000450633.2_Missense_Mutation_p.E143K	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	143					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GACTTACTCTCCAGGTGGCCT	0.632000													9	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611670	179611670	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179611670C>T	ENST00000360870.5	-	46	15679	c.15457G>A	c.(15457-15459)Gaa>Aaa	p.E5153K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	33449	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCTCTCTTCTGTAGGTGTG	0.413000													8	227					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649039	93649039	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:93649039G>A	ENST00000343253.7	+	2	623	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E159K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E41K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	41										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAGTTTAGGGGAAGAGTTATC	0.328000													25	62					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3038647	3038647	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3038647G>A	ENST00000602557.1	-	38	6268	c.5713C>T	c.(5713-5715)Cac>Tac	p.H1905Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.H1905Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H1905Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.H1905Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1905	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATTCCAGGTGGAAACCAGCA	0.398000													13	34					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679170	6679170	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6679170C>T	ENST00000245907.6	-	38	4688	c.4596G>A	c.(4594-4596)cgG>cgA	p.R1532R	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1532	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		CCTTGTCCAGCCGTTCTTCCA	0.557000													24	66					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121475877	121475877	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:121475877G>A	ENST00000260197.7	+	34	4836	c.4707G>A	c.(4705-4707)ggG>ggA	p.G1569G	SORL1_ENST00000527934.1_Silent_p.G184G|SORL1_ENST00000532694.1_Silent_p.G415G|SORL1_ENST00000525532.1_Silent_p.G513G|SORL1_ENST00000534286.1_Silent_p.G479G	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1569	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTTCTCTGGGGATGTGACTT	0.423000													57	69					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58319860	58319860	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:58319860C>T	ENST00000219301.4	-	5	897	c.503G>A	c.(502-504)gGa>gAa	p.G168E	PRSS54_ENST00000543437.1_Missense_Mutation_p.G69E|PRSS54_ENST00000567164.1_Missense_Mutation_p.G168E	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	168	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGATTCCATCCTGACACCCA	0.542000													4	48					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572436	101572436	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:101572436C>T	ENST00000326172.5	+	5	1181	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	356	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TATTGCTAATCCCATGCAGAC	0.488000													61	134					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340241	78340241	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:78340241G>A	ENST00000255189.3	-	6	908	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.L93L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	294					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GATCCTTCCAGGTCACGGAGC	0.428000													38	112					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066497	46066497	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46066497G>A	ENST00000295452.4	-	5	753	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	196					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCATCCATGGGAAAGTTATGA	0.269000													39	101					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276164	150276164	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150276164C>T	ENST00000446148.2	-	7	1112	c.685G>A	c.(685-687)Gat>Aat	p.D229N	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.D177N|ZNF300_ENST00000394226.2_Missense_Mutation_p.D213N|ZNF300_ENST00000274599.5_Missense_Mutation_p.D213N	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTCTGATCAGGTTTTTTT	0.333000													56	99					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95274316	95274316	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95274316C>T	ENST00000344604.5	-	5	1296	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	ECM2_ENST00000444490.2_Missense_Mutation_p.G361S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	383					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GGACCTATGCCTGAAGAAGTG	0.403000													22	81					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062828	76062828	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76062828G>A	ENST00000416245.1	+	3	1142	c.49G>A	c.(49-51)Gga>Aga	p.G17R	ZP3_ENST00000394857.3_Missense_Mutation_p.G193R|ZP3_ENST00000336517.4_Missense_Mutation_p.G142R			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	193					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTTCCACCTGGGAGATGCAGC	0.592000													25	272					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726037	91726037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:91726037G>A	ENST00000359028.2	+	41	10001	c.9776G>A	c.(9775-9777)aGg>aAg	p.R3259K	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3205K|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3255K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3259					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAAACAAAGGAATCTTCAG	0.363000			T	BRAF	papillary thyroid								33	141					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339010	36339010	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36339010C>T	ENST00000378910.5	-	11	1372	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	NPHS1_ENST00000353632.6_Missense_Mutation_p.G458E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	458	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACCCGGGTCCCAGCCCGGAG	0.627000													6	140					0	0	1	0	0
SMUG1	23583	broad.mit.edu	37	12	54575997	54575997	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54575997G>A	ENST00000508394.2	-	3	758	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SMUG1_ENST00000337581.3_Silent_p.V232V|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000401977.2_Silent_p.V232V	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	232					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CTTCCACCTGGACCTCTGGCA	0.672000								Base excision repair (BER), DNA glycosylases					57	94					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26351298	26351298	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26351298G>A	ENST00000335473.7	+	39	6374	c.6124G>A	c.(6124-6126)Gag>Aag	p.E2042K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2042K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2043K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2042	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GGTGCAGCGGGAGGCAGAGGC	0.637000													14	40					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46741635	46741635	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:46741635T>C	ENST00000394809.4	-	13	2556	c.2441A>G	c.(2440-2442)aAa>aGa	p.K814R	MYLK3_ENST00000536476.1_Missense_Mutation_p.K473R|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	814					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTTGGAAATTTCCTTAACCT	0.393000													23	28					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364101	22364101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22364101C>T	ENST00000397121.2	-	3	735	c.418G>A	c.(418-420)Ggt>Agt	p.G140S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTTCAAACCTTTCTCTCCA	0.323000													47	113					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94750137	94750137	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94750137G>A	ENST00000289495.5	+	3	1858	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D548N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D548N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D548N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D548N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D548N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	548	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTCAACGGGATGGCAGGTA	0.388000										HNSCC(28;0.073)			58	195					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990274	70990274	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70990274G>A	ENST00000256389.3	-	2	1595	c.1351C>T	c.(1351-1353)Cca>Tca	p.P451S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	401	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATATTCCCTGGATATGGAGGC	0.428000													46	108					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74495127	74495127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:74495127C>T	ENST00000437994.2	+	20	2695	c.2264C>T	c.(2263-2265)cCc>cTc	p.P755L	CD109_ENST00000287097.5_Missense_Mutation_p.P755L|CD109_ENST00000422508.2_Missense_Mutation_p.P678L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	755						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGAATCTTCCCTACTCTGTT	0.328000													19	34					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587000	26587000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26587000C>T	ENST00000436318.2	-	2	620	c.487G>A	c.(487-489)Gca>Aca	p.A163T	MUC15_ENST00000455601.2_Missense_Mutation_p.A136T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.A163T|MUC15_ENST00000527569.1_Missense_Mutation_p.A163T|MUC15_ENST00000281268.8_Missense_Mutation_p.A163T			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	136						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGGATGTGCTGAGATGGGC	0.438000													61	117					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101090585	101090585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:101090585G>A	ENST00000369162.2	-	24	4117	c.3773C>T	c.(3772-3774)cCt>cTt	p.P1258L		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1258	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTCAAAAATAGGGATTGTAAA	0.348000													65	28					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624602	93624602	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:93624602A>T	ENST00000375754.4	+	4	841	c.693A>T	c.(691-693)ggA>ggT	p.G231G	SYK_ENST00000375747.1_Silent_p.G231G|SYK_ENST00000375751.4_Silent_p.G231G|SYK_ENST00000375746.1_Silent_p.G231G	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	231	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCCCCGAGGGAAAGAAGTTCG	0.587000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								15	32					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352110	120352110	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120352110G>A	ENST00000283871.5	-	13	1531	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	358					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCCCTGGCAGGAACCCACCT	0.522000													62	102					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888281	97888281	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97888281C>T	ENST00000356526.2	+	1	738	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCCATCTCTTCTCTGTCTGTT	0.428000													23	88					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65717622	65717622	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65717622C>T	ENST00000253247.4	+	4	556	c.441C>T	c.(439-441)atC>atT	p.I147I	NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	147						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAACTGTTATCTCTGATGAAG	0.388000													48	120					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131010864	131010864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131010864C>T	ENST00000341179.7	+	19	2000	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	DNM1_ENST00000372923.3_Silent_p.A636A|DNM1_ENST00000486160.1_Silent_p.A636A|DNM1_ENST00000475805.1_Silent_p.A636A|DNM1_ENST00000393594.3_Silent_p.A636A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	636					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATGGCAGGCCAGCGAGACCG	0.582000													41	70					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973898	120973898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120973898G>A	ENST00000273666.6	+	16	1869	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	STXBP5L_ENST00000472879.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G533E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	533					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)		TGTGTATCAGGAGTCTCTGCA	0.328000													19	60					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169144	36169144	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36169144C>T	ENST00000357641.6	+	2	1298	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	BRPF3_ENST00000339717.7_Missense_Mutation_p.H349Y|BRPF3_ENST00000534694.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000543502.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000534400.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000443324.2_Missense_Mutation_p.H349Y	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	349					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACAGCATTCCATGTGACATG	0.537000													56	33					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312952	153312952	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153312952C>T	ENST00000368739.3	-	7	1075	c.717G>A	c.(715-717)ggG>ggA	p.G239G	PGLYRP4_ENST00000359650.5_Silent_p.G243G			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	243					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAGGTCCTCCCGGCAGTGT	0.567000													73	75					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63930632	63930632	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:63930632G>A	ENST00000443617.2	-	63	12158	c.12071C>T	c.(12070-12072)cCc>cTc	p.P4024L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4024					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGAATGAGGGAGCTGCTGC	0.438000													48	122					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933278	44933278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44933278G>A	ENST00000291187.4	-	6	1982	c.1660C>T	c.(1660-1662)Cac>Tac	p.H554Y	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.H560Y	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGATGGATGTGGAGGTCGGAG	0.552000													39	72					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43590569	43590569	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:43590569C>T	ENST00000338702.3	+	7	850	c.727C>T	c.(727-729)Cct>Tct	p.P243S	MAOA_ENST00000542639.1_Missense_Mutation_p.P110S|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	243					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GCTGAACCATCCTGTCACTCA	0.463000													20	15					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96024152	96024152	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:96024152C>T	ENST00000297954.4	+	12	3123	c.3123C>T	c.(3121-3123)acC>acT	p.T1041T	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.T1041T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.T653T|WNK2_ENST00000349097.3_Silent_p.T653T			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1041					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						AGGTCCCCACCGTGCCTGTGC	0.701000													33	77					0	0	1	0	0
RP11-876N24.2	0	broad.mit.edu	37	16	10960158	10960158	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10960158C>T	ENST00000572017.1	-	0	438																											TGAACAACTTCCAGGCCATCC	0.582000													10	21					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116485407	116485407	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:116485407A>C	ENST00000410059.1	+	8	1072	c.592A>C	c.(592-594)Aat>Cat	p.N198H	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.N148H|DPP10_ENST00000310323.8_Missense_Mutation_p.N191H|DPP10_ENST00000393147.2_Missense_Mutation_p.N202H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	198					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATTTTTGAAAATAATATCTA	0.303000													19	40					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82452623	82452623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:82452623C>T	ENST00000370728.1	+	24	4180	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.R1181*|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.R1194*|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.R1181*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.R1194*|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.R1104*|LPHN2_ENST00000319517.6_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1179					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCCTCTTCTTCGACCCCACGG	0.378000													33	72					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113461187	113461187	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:113461187C>T	ENST00000505019.1	-	27	6129	c.6004G>A	c.(6004-6006)Gag>Aag	p.E2002K	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATAATGATCTCCTTTTCAGCT	0.398000													4	12					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304446	304446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:304446C>T	ENST00000399932.3	+	3	485	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	ITFG3_ENST00000301679.2_Missense_Mutation_p.H12Y|ITFG3_ENST00000600536.1_Missense_Mutation_p.H12Y|ITFG3_ENST00000450082.2_Missense_Mutation_p.H12Y|ITFG3_ENST00000301678.3_Missense_Mutation_p.H12Y|ITFG3_ENST00000442458.2_Missense_Mutation_p.H12Y			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	12						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGCCGAAATCCACCCCTTGAA	0.493000											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	120	232					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45931712	45931712	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45931712G>A	ENST00000241041.3	-	11	986	c.969C>T	c.(967-969)gcC>gcT	p.A323A		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGCACGGAGAGGCCGCACGCT	0.677000													4	97					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077170	7077170	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7077170G>A	ENST00000535923.1	-	5	773	c.492C>T	c.(490-492)atC>atT	p.I164I	PHB2_ENST00000399433.2_Silent_p.I164I|PHB2_ENST00000542912.1_Silent_p.I164I|PHB2_ENST00000440277.1_Silent_p.I164I|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	164	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GCTCCCGGCGGATCAACAGGG	0.587000													4	125					0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:16729634G>A	ENST00000246081.2	+	2	282	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363000													14	47					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48561831	48561831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48561831C>T	ENST00000258955.2	+	8	1221	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	379					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCCAGCTGACCCTGTGGGAT	0.632000													10	104					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131488836	131488836	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:131488836G>A	ENST00000261654.5	+	11	1809	c.1250G>A	c.(1249-1251)aGg>aAg	p.R417K	GPR133_ENST00000535015.1_Missense_Mutation_p.R449K|GPR133_ENST00000376682.4_Missense_Mutation_p.R103K	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	417					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCCTTCCACAGGCACGGTGAG	0.637000													21	37					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170556	11170556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11170556C>T	ENST00000358026.2	+	34	5143	c.4859C>T	c.(4858-4860)tCc>tTc	p.S1620F	SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1554F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1557F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1588F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1555F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1588F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1558F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1558F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1557F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1588					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				gGCTCCGAATCCGAATGTGAG	0.647000			"""F, N, Mis"""		NSCLC								15	41					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853541	40853541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40853541C>T	ENST00000254691.5	+	3	2306	c.2107C>T	c.(2107-2109)Caa>Taa	p.Q703*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	703					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATGCCAATTCAAGAGCCTGG	0.483000													107	307					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52778897	52778897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52778897G>A	ENST00000257951.3	-	1	539	c.473C>T	c.(472-474)gCc>gTc	p.A158V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	158	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCCTCTGGGCATTGGGGTC	0.512000													102	215					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821626	72821626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:72821626C>T	ENST00000268489.5	-	10	11221	c.10549G>A	c.(10549-10551)Ggc>Agc	p.G3517S	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2603S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3517	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ccaccgccgccgccgccgcca	0.706000													4	29					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48888622	48888622	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48888622G>A	ENST00000314014.2	+	8	415	c.284G>A	c.(283-285)aGa>aAa	p.R95K	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.R95K	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	95										endometrium(1)|large_intestine(4)	5						CCAAAGTTGAGAAGATTGCAG	0.473000													55	116					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86118501	86118501	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:86118501C>T	ENST00000394518.2	+	6	897	c.802C>T	c.(802-804)Cct>Tct	p.P268S	AKAP13_ENST00000361243.2_Missense_Mutation_p.P268S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	268					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACACCCATTTCCTGGAGACGG	0.383000													67	124					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121722	50121722	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50121722G>A	ENST00000374160.3	-	1	555	c.479C>T	c.(478-480)cCc>cTc	p.P160L	LRRC18_ENST00000298124.3_Missense_Mutation_p.P160L|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	160						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATGCTCACGGGGATGTTGTT	0.542000													21	32					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150558104	150558104	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150558104C>T	ENST00000493429.1	+	7	2647	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	AOC1_ENST00000467291.1_Missense_Mutation_p.P688L|AOC1_ENST00000416793.2_Missense_Mutation_p.P707L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P688L					amine oxidase, copper containing 1																		ACAGCCACACCTGGGAACTCC	0.622000													41	121					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304869	10304869	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10304869C>T	ENST00000403437.2	-	23	3016	c.2922G>A	c.(2920-2922)acG>acA	p.T974T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	974					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						CCTTGTTCTCCGTGGCATGTT	0.393000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				106	309					0	0	1	0	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725792	130725792	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:130725792G>A	ENST00000412425.1	-	0	826					NR_036537.1																						AAAAAGATGAGGATGAATGTA	0.428000													9	26					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691452	49691452	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49691452G>A	ENST00000296452.4	+	5	4577	c.4463G>A	c.(4462-4464)aGt>aAt	p.S1488N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1488					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)		CCCTCAGAGAGTCCCACATTC	0.617000													52	113					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46935720	46935720	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46935720G>A	ENST00000311124.4	-	6	1780	c.1628C>T	c.(1627-1629)cCt>cTt	p.P543L	SLC19A1_ENST00000485649.2_Missense_Mutation_p.P503L|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000567670.1_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	543					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCAGGGGGAAGGGGTTGTCAC	0.662000													19	39					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030465	10030465	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10030465G>A	ENST00000378380.3	+	6	1577	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.K416K|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CTAAGAAAAAGGAAAAAGGGA	0.423000													40	74					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798408	69798408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69798408G>A	ENST00000251566.4	-	3	964	c.934C>T	c.(934-936)Caa>Taa	p.Q312*	UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.Q23*	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	312						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAACATTTTGAAACAGTGAC	0.403000													91	162					0	0	1	0	0
ZNF542	147947	broad.mit.edu	37	19	56888977	56888977	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56888977G>A	ENST00000490123.1	+	0	1495					NR_033418.1				zinc finger protein 542																		CTGCACAGGAGAATTCATACT	0.413000													5	8					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013603	31013603	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:31013603C>T	ENST00000409904.3	+	4	667	c.409C>T	c.(409-411)Cta>Tta	p.L137L	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Silent_p.L201L|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	201					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCCCCAGGTTCTATGCAAGGT	0.612000													24	71					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972868	85972868	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85972868G>A	ENST00000372117.3	+	16	1907	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	CDHR1_ENST00000440770.2_Missense_Mutation_p.E306K|CDHR1_ENST00000332904.3_Missense_Mutation_p.E602K	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	602	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGATGCAGAGGAACCCAACAA	0.537000													8	137					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902864	16902864	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16902864G>A	ENST00000430580.2	-	19	2904	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	NBPF1_ENST00000287968.8_Missense_Mutation_p.L38F|NBPF1_ENST00000432949.1_Missense_Mutation_p.L131F	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	673						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCGGAGTGAGGAGGGCCTGG	0.577000													48	1055					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167218008	167218008	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167218008C>T	ENST00000308378.3	-	14	2213	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.E601E|WDR49_ENST00000476376.1_Silent_p.E461E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	636										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAAAGTATTTCTCAGGGTCTA	0.433000													91	190					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2945399	2945399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:2945399G>A	ENST00000381130.2	+	7	1082	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	361						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGTGTGCCAGGGATATTCCGG	0.502000													11	85					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79319870	79319870	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79319870C>T	ENST00000428286.1	-	8	7443	c.6243G>A	c.(6241-6243)gaG>gaA	p.E2081E	PRUNE2_ENST00000376718.3_Silent_p.E2440E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2440					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTGGTTTCCCTCACTTCTTC	0.517000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229450	21229450	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21229450T>A	ENST00000233242.1	-	26	10417	c.10290A>T	c.(10288-10290)aaA>aaT	p.K3430N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3430	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATTTGGGCTTTTGTGGTTG	0.383000													51	169					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180047694	180047694	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180047694A>T	ENST00000261937.6	-	16	2399	c.2321T>A	c.(2320-2322)aTg>aAg	p.M774K	FLT4_ENST00000393347.3_Missense_Mutation_p.M774K|FLT4_ENST00000502649.1_Missense_Mutation_p.M774K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	774					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGATCTCCATGCTGCCCTT	0.602000													21	57					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41805041	41805041	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:41805041C>T	ENST00000263800.6	-	3	319	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	LTK_ENST00000453182.2_Missense_Mutation_p.A75T|LTK_ENST00000355166.5_Missense_Mutation_p.A75T|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	75					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGGCCGCTGGCCCCGCAGGTA	0.692000										TSP Lung(18;0.14)			23	26					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1520681	1520681	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1520681T>C	ENST00000345913.4	+	15	2636	c.2545T>C	c.(2545-2547)Tgg>Cgg	p.W849R	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.W792R|TPO_ENST00000382198.1_Missense_Mutation_p.W676R|TPO_ENST00000346956.3_Missense_Mutation_p.W805R|TPO_ENST00000329066.4_Missense_Mutation_p.W849R|TPO_ENST00000337415.3_Missense_Mutation_p.W849R|TPO_ENST00000349624.3_Missense_Mutation_p.W676R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	849					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCGGGTGACTTGGATCTCCAT	0.577000													35	56					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360180	40360180	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40360180G>A	ENST00000338305.6	-	3	2414	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	624						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)					CCAGGGAGCTGGAGGAAGAGG	0.751000													5	18					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5948081	5948081	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5948081C>T	ENST00000379999.5	+	4	496	c.392C>T	c.(391-393)tCt>tTt	p.S131F	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.S80F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	80					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAAGCAATTCTGTTGGCCAG	0.552000													7	120					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11130972	11130972	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11130972G>A	ENST00000376936.4	-	21	2350	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.V742V|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	767					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGCTGTCGGACGGAGATGG	0.542000													79	160					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30142559	30142559	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30142559C>T	ENST00000335574.5	+	8	859	c.735C>T	c.(733-735)ccC>ccT	p.P245P	HM13_ENST00000340852.5_Silent_p.P245P|HM13_ENST00000398174.3_Silent_p.P245P|HM13_ENST00000376127.3_Silent_p.P203P|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	245					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGTGTTTCCCCAGGATCTGC	0.527000													8	102					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035845	36035845	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36035845C>T	ENST00000282507.3	-	7	1628	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.M475I|UGT3A2_ENST00000545528.1_Missense_Mutation_p.M207I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	509						integral to membrane	glucuronosyltransferase activity	p.M509I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAGACAGCCATGCCCAGCA	0.582000													26	77					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28950362	28950362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:28950362G>A	ENST00000524189.1	-	37	4396	c.4358C>T	c.(4357-4359)cCt>cTt	p.P1453L	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1453					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGATTTGACAGGATTCAAGTA	0.483000													10	23					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080167	18080167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:18080167C>T	ENST00000539092.1	+	5	1302	c.611C>T	c.(610-612)tCt>tTt	p.S204F	NAT1_ENST00000545197.1_Missense_Mutation_p.S266F|NAT1_ENST00000535084.1_Missense_Mutation_p.S204F|NAT1_ENST00000517492.1_Missense_Mutation_p.S204F|NAT1_ENST00000520546.1_Missense_Mutation_p.S204F|NAT1_ENST00000541942.1_Missense_Mutation_p.S204F|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Missense_Mutation_p.S204F|NAT1_ENST00000518029.1_Missense_Mutation_p.S204F	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	204					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GATTTTGAGTCTATGAATACA	0.393000													69	85					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184868	19184868	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:19184868C>T	ENST00000275461.3	-	1	176	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCTGGGTCCCCCAAGGAGACC	0.662000													25	58					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896679	175896679	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175896679G>A	ENST00000359240.3	+	5	673	c.3G>A	c.(1-3)atG>atA	p.M1I	ADAM29_ENST00000445694.1_Start_Codon_SNP_p.M1I|ADAM29_ENST00000404450.4_Start_Codon_SNP_p.M1I|ADAM29_ENST00000514159.1_Start_Codon_SNP_p.M1I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	1					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTTTGAACATGAAGATGTTAC	0.502000													21	64					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75804880	75804880	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:75804880G>A	ENST00000322507.8	-	60	8902	c.8593C>T	c.(8593-8595)Cca>Tca	p.P2865S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2861S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1701S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2789S|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2865	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGACTCCTGGGGAGCCTGGG	0.498000													23	53					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683245	43683245	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43683245C>T	ENST00000599812.1	-	3	590	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	165	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGTTAAGATCACAGCCTCCA	0.522000													127	248					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37194106	37194106	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:37194106C>T	ENST00000262879.6	+	25	4086	c.3802C>T	c.(3802-3804)Cct>Tct	p.P1268S	RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1268S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P1047S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1265S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1268	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGTTCCTTCTCCTGTGGAGTC	0.378000													68	165					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498000													20	58					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183542397	183542397	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183542397G>A	ENST00000413720.1	-	4	671	c.397C>T	c.(397-399)Cct>Tct	p.P133S	NCF2_ENST00000367535.3_Missense_Mutation_p.P178S|NCF2_ENST00000367536.1_Missense_Mutation_p.P178S|NCF2_ENST00000418089.1_Intron	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	178					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGCCCACAGGGATCACCACT	0.517000													144	164					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446487	92446487	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:92446487C>T	ENST00000370389.2	+	10	2207	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	BRDT_ENST00000394530.3_Missense_Mutation_p.S455F|BRDT_ENST00000399546.2_Missense_Mutation_p.S501F|BRDT_ENST00000402388.1_Missense_Mutation_p.S501F|BRDT_ENST00000362005.3_Missense_Mutation_p.S501F	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GGTCTAAAATCTGAAGATGAA	0.328000													22	29					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455879	5455879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5455879C>T	ENST00000222033.4	+	1	454	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	126	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCCCTGGCCCCCGAGGGCATA	0.692000													43	128					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076912	40076912	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:40076912G>A	ENST00000324616.5	+	8	1340	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	C12orf40_ENST00000405531.3_Missense_Mutation_p.D396N|C12orf40_ENST00000398716.1_Missense_Mutation_p.D319N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	396										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTTGAGAACGATTACTACCC	0.289000													23	42					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84399413	84399413	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:84399413G>A	ENST00000260505.8	-	9	1302	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	309	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGCAGGACATGAGGTTCTGCT	0.388000													44	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577224	179577224	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179577224G>A	ENST00000589042.1	-	95	27649	c.27425C>T	c.(27424-27426)tCg>tTg	p.S9142L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8825L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7898L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8825	Ig-like 74.						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)			CCAGGTAACCGAAATGGGAGG	0.423000													23	41					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630927	140630927	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:140630927C>T	ENST00000520439.1	-	2	762	c.699G>A	c.(697-699)acG>acA	p.T233T	KCNK9_ENST00000303015.1_Silent_p.T233T			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	233						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCCCGATGACCGTCAGCCCCA	0.592000													30	85					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117203	163117203	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:163117203G>A	ENST00000313961.5	-	5	752	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	RGS5_ENST00000530507.1_Missense_Mutation_p.H163Y|RGS5_ENST00000367903.3_Missense_Mutation_p.H179Y|RGS5_ENST00000527988.1_Missense_Mutation_p.H51Y	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	159	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			ATCAGGGCATGGATTCTTTTC	0.458000													61	68					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122671	40122671	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40122671C>T	ENST00000261435.6	+	9	3356	c.2940C>T	c.(2938-2940)acC>acT	p.T980T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	980						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						TTACTTTTACCAATAGTGCAC	0.428000													25	68					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642024	104642024	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104642024G>A	ENST00000315264.7	+	11	2860	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	KIF26A_ENST00000423312.2_Missense_Mutation_p.E967K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	967					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGCCCCAGAAGAGCCTGGGGG	0.697000													15	14					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428785	43428785	+	RNA	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43428785T>C	ENST00000406070.2	-	0	1531					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				gcagctgttgttatggtgttg	0.403000													3	13					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540528	28540528	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28540528C>T	ENST00000452236.2	-	4	3755	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1046					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.M1046I(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatcagcttccatattatcac	0.299000													34	120					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887355	86887355	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:86887355G>A	ENST00000373119.4	+	7	1615	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	KLHL4_ENST00000373114.4_Silent_p.L490L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	490						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TAAAAACTTTGAATACAGTGG	0.423000													11	36					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200522733	200522733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200522733G>A	ENST00000367350.4	-	30	5168	c.4730C>T	c.(4729-4731)tCt>tTt	p.S1577F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1577	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AAAGAGGAGAGACTTAGCTAG	0.383000													34	86					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746502	150746502	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150746502C>T	ENST00000357922.4	+	1	1124	c.530C>T	c.(529-531)aCc>aTc	p.T177I	ASIC3_ENST00000297512.8_Missense_Mutation_p.T177I|ASIC3_ENST00000349064.5_Missense_Mutation_p.T177I	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	177					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GAGAACTTCACCACGGTGAGC	0.617000													56	140					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416841	110416841	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110416841C>T	ENST00000378402.5	+	15	1536	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	478					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGATGTTGGACTGTACCAGTA	0.353000										HNSCC(38;0.096)			9	26					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35876102C>T	ENST00000303115.3	+	8	1023	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						26	91					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143498	49143498	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49143498A>T	ENST00000084798.4	-	4	1004	c.325T>A	c.(325-327)Ttc>Atc	p.F109I	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	109						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GCAGGCAGGAAGGAGACATGT	0.607000													35	112					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166243211	166243211	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166243211G>A	ENST00000226725.6	+	15	2040	c.1781G>A	c.(1780-1782)tGa>tAa	p.*594*	KLHL2_ENST00000421009.2_Silent_p.*497*|KLHL2_ENST00000514860.1_Silent_p.*598*|KLHL2_ENST00000538127.1_Silent_p.*506*|KLHL2_ENST00000506761.1_Silent_p.*428*|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	0					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAACCATTATGAGCCTGAAGG	0.393000													46	87					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115531843	115531843	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115531843T>C	ENST00000361048.1	+	8	994	c.667T>C	c.(667-669)Tta>Cta	p.L223L	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Silent_p.L135L|PLEKHS1_ENST00000369310.3_Silent_p.L217L|PLEKHS1_ENST00000369309.1_Silent_p.L37L	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AAGTGTTCTTTTAGAGGTAAC	0.383000													8	147					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080367	5080367	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5080367A>G	ENST00000321522.2	-	1	490	c.491T>C	c.(490-492)cTt>cCt	p.L164P		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGCAATATAAGAAGTATAGA	0.443000													13	12					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852339	173852339	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:173852339G>A	ENST00000506823.1	+	9	1726	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D340N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	357	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGAAATGTTTGATGTTCCATG	0.403000													43	135					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97771768	97771768	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:97771768G>A	ENST00000370192.3	-	17	2244	c.2144C>T	c.(2143-2145)aCt>aTt	p.T715I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	715					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CACAATATCAGTGACATTTGG	0.463000													77	232					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282879	39282879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:39282879C>T	ENST00000373229.5	-	6	842	c.829G>A	c.(829-831)Gcg>Acg	p.A277T	KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230T|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	277						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCTGGAGCCGCCTTGGCTCCA	0.577000													16	271					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149771142	149771142	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149771142C>T	ENST00000451292.1	+	21	3438	c.3330C>T	c.(3328-3330)acC>acT	p.T1110T	TCOF1_ENST00000445265.2_Silent_p.T996T|TCOF1_ENST00000504761.2_Silent_p.T1073T|TCOF1_ENST00000323668.7_Silent_p.T996T|TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000377797.3_Silent_p.T1073T|TCOF1_ENST00000513346.1_Intron			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1073					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCACTGACCCAGGCTGCCC	0.617000													24	81					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58838106	58838106	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:58838106G>A	ENST00000414170.3	+	6	1027	c.740G>A	c.(739-741)gGg>gAg	p.G247E	LIPC_ENST00000433326.2_Missense_Mutation_p.G186E|LIPC_ENST00000356113.6_Missense_Mutation_p.G247E|LIPC_ENST00000299022.5_Missense_Mutation_p.G247E			P11150	LIPC_HUMAN	lipase, hepatic	247					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TATCCCAACGGGGGCTCCTTC	0.557000													48	102					0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735099	16735099	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:16735099C>T	ENST00000579062.1	-	0	354																											CCGCAATGATCTGGAGTGGGA	0.537000													6	5					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19213142	19213142	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19213142G>A	ENST00000263200.10	-	13	2034	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	CLTCL1_ENST00000353891.5_Silent_p.F654F|CLTCL1_ENST00000427926.1_Silent_p.F654F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	654	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGAGCCAAAGAAATTGACAA	0.473000			T	?	ALCL								3	11					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186761079	186761079	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186761079C>T	ENST00000169298.3	+	4	1262	c.588C>T	c.(586-588)tcC>tcT	p.S196S	ST6GAL1_ENST00000448044.1_Silent_p.S196S|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	196					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGAAGTCCTCCCAACTAGGCA	0.542000													9	179					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40457524	40457524	+	Missense_Mutation	SNP	G	G	A	rs34266806	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:40457524G>A	ENST00000301825.3	+	7	909	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	ENTPD3_ENST00000456402.1_Missense_Mutation_p.R264Q|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R264Q|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	264			R -> Q (in dbSNP:rs34266806).			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)		TGCTATGGCCGGAATGAGGCT	0.547000													16	39					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8990109	8990109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:8990109C>T	ENST00000299698.7	+	8	982	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	112						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTACTGGTATCGAGAGGTGGA	0.493000													39	62					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13661236	13661236	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13661236G>A	ENST00000404922.3	+	8	2179	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E	FBLN2_ENST00000535798.1_Missense_Mutation_p.G713E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G687E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G687E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	687	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCAGACAATGGACCCTGCAAG	0.572000													9	38					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625529	73625529	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73625529A>G	ENST00000317905.5	-	16	2133	c.1974T>C	c.(1972-1974)ggT>ggC	p.G658G	RECQL5_ENST00000423245.2_Silent_p.G631G|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	658					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			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)			CTTTGGGGAAACCAGCTCCCA	0.642000								Other identified genes with known or suspected DNA repair function					19	98					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34507088	34507088	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:34507088C>T	ENST00000374037.3	-	5	1182	c.768G>A	c.(766-768)aaG>aaA	p.K256K	SPDEF_ENST00000544425.1_Silent_p.K240K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	256					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GTAGCAACTCCTTGAGGAACT	0.627000													87	282					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855767	31855767	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:31855767C>T	ENST00000396184.3	-	16	1788	c.1582_splice	c.e16-1	p.E528_splice	PDE1C_ENST00000396193.1_Splice_Site_p.E588_splice|PDE1C_ENST00000321453.7_Splice_Site_p.E528_splice|PDE1C_ENST00000396191.1_Splice_Site_p.E528_splice|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Splice_Site_p.E528_splice	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	528					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCCTTCTCCTCTGCATCCA	0.502000													54	112					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880907	64880907	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:64880907C>T	ENST00000169565.3	+	4	699	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACTCTACTTCCCTTCCTCAT	0.622000													41	127					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681511	55681511	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55681511G>A	ENST00000344514.1	-	1	547	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAATAAGAGAGGAGGGATATC	0.408000													37	66					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337432	22337432	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22337432G>A	ENST00000390436.2	+	0	246																											AAATGTGGGCGAAAAGAAAGA	0.428000													77	187					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3778243	3778243	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:3778243G>A	ENST00000310132.6	-	14	1860	c.1462C>T	c.(1462-1464)Cca>Tca	p.P488S	MATK_ENST00000585778.1_Missense_Mutation_p.P487S|MATK_ENST00000395040.2_Missense_Mutation_p.P447S|MATK_ENST00000395045.2_Missense_Mutation_p.P489S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	488				ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703).	cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGAGGCTGGGGCACCTGCA	0.726000													12	29					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60070120	60070120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60070120C>T	ENST00000355131.3	+	6	642	c.419C>T	c.(418-420)tCa>tTa	p.S140L	MS4A4A_ENST00000395016.3_Missense_Mutation_p.S140L|MS4A4A_ENST00000337908.4_Missense_Mutation_p.S159L|MS4A4A_ENST00000532114.1_Intron	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	159						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCGTTTTATTCATTCCATCAC	0.408000													42	81					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043775	20043775	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20043775G>A	ENST00000570682.1	-	2	644	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	115						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AATCCATATGGAGGTGTGGAT	0.498000													9	85					0	0	1	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135382	23135382	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23135382C>T	ENST00000390314.2	+	0	286																											GGTCCCTGATCGCTTCTCTGG	0.542000													150	351					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494883	110494883	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:110494883G>A	ENST00000324068.1	-	6	954	c.787C>T	c.(787-789)Cgt>Tgt	p.R263C	CAPN6_ENST00000541758.1_Missense_Mutation_p.R8C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	263	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						TCTCCAAGACGAATTTTGCGA	0.493000													246	100					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171303	150171303	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150171303A>C	ENST00000307271.3	+	4	1460	c.886A>C	c.(886-888)Aag>Cag	p.K296Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	296						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGAGAAAAAAGAAAGTTTC	0.468000													59	140					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089939	31089939	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:31089939C>T	ENST00000359202.3	-	1	231	c.132G>A	c.(130-132)cgG>cgA	p.R44R		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	44	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCACGTCGTCCCGGTTGAAGT	0.577000													64	40					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899944	128899944	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:128899944C>T	ENST00000435159.2	+	2	753	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	251						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGGGCAACGCCATCCGTCCAG	0.662000													4	9					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603530	140603530	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140603530C>T	ENST00000239449.4	+	1	453	c.453C>T	c.(451-453)acC>acT	p.T151T	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAGCTACCTTTCTAATGG	0.393000													49	104					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69127276	69127276	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:69127276C>T	ENST00000229179.4	+	24	2478	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	NUP107_ENST00000401003.3_Intron|NUP107_ENST00000378905.2_Missense_Mutation_p.P477S|NUP107_ENST00000539906.1_Missense_Mutation_p.P687S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	716					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTGAAAATTCCTCAGGATTC	0.378000													40	80					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44129384	44129384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44129384C>T	ENST00000222374.2	-	7	822	c.774G>A	c.(772-774)tgG>tgA	p.W258*	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	258	Ig-like C2-type 2.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCCGCGGTTCCAGCGGATCT	0.577000													24	40					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135202527	135202527	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135202527G>A	ENST00000278060.5	+	5	1272	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.E397K|PAOX_ENST00000480071.2_Missense_Mutation_p.M312I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	535					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCTGTCGGATGAAGAAGTACT	0.537000													135	303					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32818276	32818276	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32818276A>C	ENST00000380250.3	+	47	7281	c.6785A>C	c.(6784-6786)cAg>cCg	p.Q2262P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTGTCAAACAGTTCAATGTG	0.463000													26	85					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386773	15386773	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:15386773G>A	ENST00000376030.2	+	6	1316	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	KAZN_ENST00000400797.3_Missense_Mutation_p.R247Q|KAZN_ENST00000361144.5_Missense_Mutation_p.R335Q|KAZN_ENST00000503743.1_Missense_Mutation_p.R341Q|KAZN_ENST00000400798.2_Missense_Mutation_p.R247Q|KAZN_ENST00000422387.2_Missense_Mutation_p.R341Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	341					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AACTCCCCTCGACACCGGACA	0.697000													92	191					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55224516	55224516	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55224516G>A	ENST00000275493.2	+	10	1375	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	EGFR_ENST00000420316.2_Missense_Mutation_p.E400K|EGFR_ENST00000455089.1_Missense_Mutation_p.E355K|EGFR_ENST00000344576.2_Missense_Mutation_p.E400K|EGFR_ENST00000442591.1_Missense_Mutation_p.E400K|EGFR_ENST00000342916.3_Missense_Mutation_p.E400K|EGFR_ENST00000454757.2_Missense_Mutation_p.E347K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	400					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACCGTAAAGGAAATCACAGG	0.378000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			29	62					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265724	45265724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45265724C>T	ENST00000020926.3	-	6	1271	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	387	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AAGCGCACAGCTCTGCCCTGA	0.627000													5	81					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698375	79698375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:79698375C>T	ENST00000538312.1	+	5	671	c.337C>T	c.(337-339)Cca>Tca	p.P113S	FAM46D_ENST00000308293.5_Missense_Mutation_p.P113S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	113										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGACTTTTTACCAAAAGATGT	0.393000													60	25					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5223145	5223145	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5223145G>A	ENST00000372412.4	-	18	2894	c.2661C>T	c.(2659-2661)tcC>tcT	p.S887S	PTPRS_ENST00000587303.1_Silent_p.S886S|PTPRS_ENST00000262963.6_Silent_p.S882S|PTPRS_ENST00000357368.4_Silent_p.S886S|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Silent_p.S864S|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Silent_p.S864S|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	886	Fibronectin type-III 6.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCGGTCCTCGGAGGGCGGGA	0.731000													6	13					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048882	180048882	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180048882G>A	ENST00000261937.6	-	13	1758	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	FLT4_ENST00000393347.3_Silent_p.I560I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.I560I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	560	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTGGATTCGATGGTGAAGC	0.642000													53	149					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83403114	83403114	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:83403114C>T	ENST00000262752.2	-	4	283	c.276G>A	c.(274-276)aaG>aaA	p.K92K	RPS6KA6_ENST00000543399.1_Silent_p.K92K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	92	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GACCGGTCTTCTTTCTAACAA	0.318000													24	11					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122848601	122848601	+	Silent	SNP	G	G	A	rs146627539	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:122848601G>A	ENST00000358808.2	-	4	865	c.711C>T	c.(709-711)gcC>gcT	p.A237A	CLIP1_ENST00000537178.1_Silent_p.A237A|CLIP1_ENST00000540338.1_Silent_p.A237A|CLIP1_ENST00000302528.7_Silent_p.A237A|CLIP1_ENST00000361654.4_Silent_p.A237A	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	237	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTCCCCCTTGGCAAAGTCGG	0.493000													5	79					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916908	149916908	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:149916908G>A	ENST00000369135.3	-	12	1674	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	460					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACTCAGGAGTGGACCGGGGCT	0.607000													44	127					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73733428	73733428	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73733428C>T	ENST00000200181.3	+	17	2203	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	ITGB4_ENST00000449880.2_Silent_p.S672S|ITGB4_ENST00000339591.3_Silent_p.S672S|ITGB4_ENST00000579662.1_Silent_p.S672S|ITGB4_ENST00000450894.3_Silent_p.S672S|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	672				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGCTGCTCCTTCCGGGACG	0.662000													4	23					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297303	28297303	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28297303G>A	ENST00000414429.1	-	6	1061	c.158C>T	c.(157-159)cCc>cTc	p.P53L	ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P53L|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P53L|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P53L					zinc finger and SCAN domain containing 31																		AGCTTCTCGGGGACCAGGAGT	0.522000													68	294					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903629	5903629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:5903629G>A	ENST00000378961.4	+	4	1043	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	280						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CGACGCACGAGGCCCAGACAC	0.597000													12	16					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102553563	102553563	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:102553563G>A	ENST00000393772.2	-	11	1404	c.978C>T	c.(976-978)ctC>ctT	p.L326L	FBXL13_ENST00000379308.3_Silent_p.L326L|FBXL13_ENST00000379305.3_Silent_p.L326L|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L326L|FBXL13_ENST00000436908.1_Silent_p.L326L|FBXL13_ENST00000313221.4_Silent_p.L326L|FBXL13_ENST00000379306.3_Silent_p.L326L|FBXL13_ENST00000455112.2_Silent_p.L326L|LRRC17_ENST00000339431.4_5'UTR			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	326										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCAGATAGATGAGCTTGTGGC	0.493000													22	109					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89042941	89042941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:89042941C>T	ENST00000237612.3	-	6	1080	c.535G>A	c.(535-537)Gga>Aga	p.G179R	ABCG2_ENST00000515655.1_Missense_Mutation_p.G179R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	179	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AACTGAGTTCCAACCTAAATC	0.398000													33	51					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80575194	80575194	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80575194G>A	ENST00000392325.4	-	8	978	c.784C>T	c.(784-786)Cca>Tca	p.P262S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		TTCCTTTTTGGATCTTCAGCT	0.527000													13	48					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090506	91090506	+	Translation_Start_Site	SNP	G	G	A	rs67070364		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:91090506G>A	ENST00000373094.1	+	1	848	c.3G>A	c.(1-3)atG>atA	p.M1I	PCDH11X_ENST00000361724.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000373088.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000373097.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000395337.2_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000361655.2_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000298274.8_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000406881.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000504220.1_Start_Codon_SNP_p.M1I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACCTGGTATGGACTTGTTGT	0.468000													55	27					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133780601	133780601	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:133780601G>C	ENST00000536435.2	+	6	2659	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	ZNF268_ENST00000228289.5_Missense_Mutation_p.E777Q|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.E616Q|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	777						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCATGCAGGGGAAAAGCCTTA	0.413000													8	12					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281154	158281154	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:158281154C>T	ENST00000296526.7	+	13	2475	c.2150C>T	c.(2149-2151)tCc>tTc	p.S717F	GRIA2_ENST00000393815.2_Missense_Mutation_p.S670F|GRIA2_ENST00000264426.9_Missense_Mutation_p.S717F|GRIA2_ENST00000449365.1_Missense_Mutation_p.S670F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S670F	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	717					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGCGGAAGTCCAAAGGGAAA	0.498000													20	57					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41015500	41015500	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41015500A>C	ENST00000399564.4	-	29	3415	c.2965T>G	c.(2965-2967)Tct>Gct	p.S989A	MROH2B_ENST00000506092.2_Missense_Mutation_p.S544A	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATTTTAGAAGAAATCTTGATC	0.418000													15	57					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75678274	75678274	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:75678274G>A	ENST00000319410.5	-	2	174	c.53C>T	c.(52-54)tCc>tTc	p.S18F	KARS_ENST00000568378.1_Missense_Mutation_p.S18F|KARS_ENST00000302445.3_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	0					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTCTGCCCAGGAGGTTTTGCG	0.537000													6	6					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357153	13357153	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:13357153C>T	ENST00000276297.4	-	2	837	c.428G>A	c.(427-429)gGa>gAa	p.G143E	DLC1_ENST00000511869.1_Missense_Mutation_p.G143E|DLC1_ENST00000316609.5_Missense_Mutation_p.G143E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	143					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGCCTGCTCCTTGGATCAT	0.408000													88	227					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919747	4919747	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:4919747C>T	ENST00000433855.1	+	1	1406	c.540C>T	c.(538-540)tcC>tcT	p.S180S	KCNA6_ENST00000280684.3_Silent_p.S180S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCATCGTCTCCGTGTTGGTCA	0.587000										HNSCC(72;0.22)			21	59					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211898	72211898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:72211898G>A	ENST00000340726.3	-	8	1253	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EYA1_ENST00000388743.2_Missense_Mutation_p.S204F|EYA1_ENST00000388740.3_Missense_Mutation_p.S172F|EYA1_ENST00000303824.7_Missense_Mutation_p.S199F|EYA1_ENST00000388742.4_Missense_Mutation_p.S205F|EYA1_ENST00000419131.1_Missense_Mutation_p.S200F|EYA1_ENST00000388741.2_Missense_Mutation_p.S171F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	205					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAATCCAGAGGAATTTGTGAG	0.299000													39	116					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4722448	4722448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:4722448C>T	ENST00000263088.6	+	22	2374	c.2243C>T	c.(2242-2244)cCc>cTc	p.P748L	PLD2_ENST00000572940.1_Missense_Mutation_p.P748L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	748	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.P748L(4)		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)	GGCGGGCACCCCGTCTCGGAG	0.597000													28	76					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690279	177690279	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:177690279C>T	ENST00000390654.3	-	9	926	c.569G>A	c.(568-570)gGa>gAa	p.G190E	COL23A1_ENST00000407622.1_Missense_Mutation_p.G154E	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	190	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCAGGAGGTCCAGGGGGCCC	0.677000													20	33					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29589906	29589906	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29589906G>A	ENST00000377034.4	-	9	1375	c.1040C>T	c.(1039-1041)cCa>cTa	p.P347L	GABBR1_ENST00000355973.3_Missense_Mutation_p.P230L|GABBR1_ENST00000377016.4_Missense_Mutation_p.P285L|GABBR1_ENST00000377012.4_Missense_Mutation_p.P230L|GABBR1_ENST00000376977.3_Missense_Mutation_p.P347L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	347					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGGCACAGCTGGATCTGAGAA	0.522000													20	77					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58373520	58373520	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:58373520C>T	ENST00000435505.2	+	15	1838	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	VRK2_ENST00000417641.2_Missense_Mutation_p.H365Y|VRK2_ENST00000440705.2_Missense_Mutation_p.H342Y|VRK2_ENST00000340157.4_Missense_Mutation_p.H365Y|VRK2_ENST00000412104.2_Missense_Mutation_p.H365Y			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	365						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAAAAAAGTCCACAGTGAGAG	0.403000													6	87					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737437	164737437	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:164737437G>A	ENST00000264382.3	-	28	3438	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1126	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCAGTTCAGATCTCGCTTA	0.423000										HNSCC(35;0.089)			35	75					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101826446	101826446	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:101826446C>T	ENST00000360035.2	+	0	3440					NR_002216.1															endometrium(2)|lung(8)	10						TTTGTTTCCTCTTTTTACCAG	0.507000													11	4					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40800848	40800848	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40800848C>T	ENST00000381782.2	+	10	1822	c.1327C>T	c.(1327-1329)Cca>Tca	p.P443S	NSUN7_ENST00000316607.5_Missense_Mutation_p.P443S	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTCAGTTTTTCCAGAAGAAAA	0.338000													22	60					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42643918	42643918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42643918C>T	ENST00000372901.1	+	39	4634	c.4376C>T	c.(4375-4377)aCc>aTc	p.T1459I	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Missense_Mutation_p.T1459I			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1459					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATCTTACTTACCTCATGTACA	0.388000													8	396					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954411	75954411	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75954411G>A	ENST00000274364.6	+	21	2745	c.2448G>A	c.(2446-2448)agG>agA	p.R816R	IQGAP2_ENST00000502745.1_Silent_p.R312R|IQGAP2_ENST00000396234.3_Silent_p.R312R|IQGAP2_ENST00000379730.3_Silent_p.R318R	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	816					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCAAGATCAGGGCCAATCAAC	0.453000													8	113					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918270	70918270	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70918270C>T	ENST00000334414.6	-	33	6650	c.6606G>A	c.(6604-6606)gtG>gtA	p.V2202V	RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000261266.5_Silent_p.V1984V|PTPRB_ENST00000451516.2_Silent_p.V1894V|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Silent_p.V1894V|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Silent_p.V1894V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V2114V|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1984					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCTGGATTCACATTTTCAT	0.438000													11	11					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678339	88678339	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:88678339G>A	ENST00000394480.1	-	10	1518	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	NTRK3_ENST00000557856.1_Silent_p.P399P|NTRK3_ENST00000558676.1_Silent_p.P399P|NTRK3_ENST00000357724.2_Silent_p.P399P|NTRK3_ENST00000540489.2_Silent_p.P399P|NTRK3_ENST00000542733.2_Silent_p.P301P|NTRK3_ENST00000355254.2_Silent_p.P399P|NTRK3_ENST00000360948.2_Silent_p.P399P|NTRK3_ENST00000317501.3_Silent_p.P399P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	399					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACCTGGAAAGGGCTCCTTGA	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			34	87					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98802700	98802700	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:98802700G>A	ENST00000266058.4	-	20	2367	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P708S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	708	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.P708S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCTGCAGGGGAATCTGCCGC	0.642000													14	52					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902120	1902120	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1902120C>T	ENST00000358771.4	+	3	668	c.516C>T	c.(514-516)tcC>tcT	p.S172S	SIRPA_ENST00000356025.3_Silent_p.S172S|SIRPA_ENST00000400068.3_Silent_p.S172S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	172	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCTGCGAGTCCCACGGCTTCT	0.572000													29	67					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321534	79321534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79321534G>A	ENST00000428286.1	-	8	5779	c.4579C>T	c.(4579-4581)Cct>Tct	p.P1527S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1886S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1886					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTAAAAGGATTAGTATAG	0.473000													13	43					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392390	3392390	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:3392390C>T	ENST00000324266.5	+	2	1191	c.996C>T	c.(994-996)ttC>ttT	p.F332F	TRAPPC12_ENST00000382110.2_Silent_p.F332F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	332							binding										GCGCCGTGTTCGTGGACAAGG	0.687000													6	16					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426297	426297	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:426297G>A	ENST00000431232.2	-	6	1223	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P162S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	355					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CGCGTGACTGGGTAGTTTGTG	0.657000													33	92					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499398	37499398	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37499398C>T	ENST00000381792.2	-	2	200	c.60G>A	c.(58-60)gaG>gaA	p.E20E	TMPRSS6_ENST00000406725.1_Silent_p.E20E|TMPRSS6_ENST00000346753.3_Silent_p.E29E|TMPRSS6_ENST00000442782.2_Silent_p.E29E|TMPRSS6_ENST00000406856.1_Silent_p.E20E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	29					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCTCCGCTTCCTCGCCATCAC	0.662000													83	181					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12292599	12292599	+	Silent	SNP	G	G	A	rs150035515	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:12292599G>A	ENST00000379375.5	+	2	357	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	30					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGCTCAGCGCGGTGGGTGAGA	0.617000													7	278					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51910835	51910835	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:51910835G>A	ENST00000371117.3	-	24	2834	c.2559C>T	c.(2557-2559)tcC>tcT	p.S853S	PKHD1_ENST00000340994.4_Silent_p.S853S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	853					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAATCTGAGTGGACCAGGACA	0.448000													46	56					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11978663	11978663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:11978663G>A	ENST00000356352.2	-	18	3900	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	UPF2_ENST00000357604.5_Missense_Mutation_p.P1143S|UPF2_ENST00000397053.2_Missense_Mutation_p.P1143S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1143	Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGATGCAAAGGAATGGCAACA	0.438000													21	63					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505286	70505286	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70505286C>T	ENST00000457664.2	-	1	72	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Intron	NM_001105677.2	NP_001099147.2																					AGAACAACTTCAGTCAGAGTC	0.348000													32	62					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56203262	56203262	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56203262C>T	ENST00000411543.2	+	7	1710	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	EPN1_ENST00000270460.6_Missense_Mutation_p.P302L|EPN1_ENST00000085079.7_Missense_Mutation_p.P277L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	302	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCCCTGTCCCTCCAGCTGCT	0.751000													22	27					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012370	167012370	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:167012370C>T	ENST00000061240.2	+	19	3180	c.2533C>T	c.(2533-2535)Ctt>Ttt	p.L845F	TLL1_ENST00000507499.1_Missense_Mutation_p.L868F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	845	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTCACCGATTCTTGGACGACT	0.388000													22	66					0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24026239	24026239	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24026239A>G	ENST00000288014.6	+	1	1009	c.273A>G	c.(271-273)caA>caG	p.Q91Q	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Silent_p.Q91Q|THTPA_ENST00000554789.1_Silent_p.Q91Q|THTPA_ENST00000554970.1_Silent_p.Q91Q|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Silent_p.Q91Q			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	91					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	TTGTGGCCCAACTCTGTAAGG	0.572000													45	84					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52881577	52881577	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52881577G>A	ENST00000330722.6	-	9	1690	c.1622C>T	c.(1621-1623)tCt>tTt	p.S541F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	541	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCCAACAGAGCTGAGGCC	0.592000													59	104					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156170718	156170718	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:156170718C>T	ENST00000302490.8	+	3	1167	c.296C>T	c.(295-297)tCa>tTa	p.S99L	KCNAB1_ENST00000490337.1_Missense_Mutation_p.S117L|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S106L|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S99L|KCNAB1_ENST00000389636.5_Missense_Mutation_p.S117L	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	117						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGTCAAATTTCAGATGAGGTA	0.363000													46	98					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536787	44536787	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44536787G>A	ENST00000187879.8	+	4	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	ZNF222_ENST00000391960.3_Silent_p.K360K|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AATGTGGGAAGAGCTTCAAAT	0.398000													15	203					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070294	70070294	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70070294G>A	ENST00000446444.1	-	5	1172	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	388					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CCACCATAGGGATCCCATGGT	0.423000													101	135					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53079532	53079532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53079532C>T	ENST00000276480.7	-	11	1767	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E362K(1)		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)				TCCCTCTTTTCAGGCCTTGGT	0.512000													65	172					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548463	35548463	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35548463C>T	ENST00000455600.1	+	2	2514	c.1945C>T	c.(1945-1947)Cca>Tca	p.P649S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	649						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGATGGATCCAGGGCCTGC	0.612000													23	66					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915866	126915866	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126915866C>T	ENST00000398112.1	+	2	578	c.338C>T	c.(337-339)cCc>cTc	p.P113L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGCTTTGACCCCCTCATAGGA	0.577000													82	198					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16216931	16216931	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:16216931G>A	ENST00000339732.5	+	1	776	c.273G>A	c.(271-273)cgG>cgA	p.R91R	GALNT15_ENST00000437509.1_Silent_p.R91R|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TCTCACTGCGGGAGGATCAGC	0.612000													28	57					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116539962	116539962	+	Silent	SNP	G	G	A	rs150530543	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:116539962G>A	ENST00000410059.1	+	17	1998	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	DPP10_ENST00000409163.1_Silent_p.T456T|DPP10_ENST00000310323.8_Silent_p.T499T|DPP10_ENST00000393147.2_Silent_p.T510T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	506					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TACATAGTACGGACAACCCAG	0.343000													34	76					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366964	248366964	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248366964C>T	ENST00000456743.1	+	1	633	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAAAAGATTCTTTTCATCTG	0.433000													236	234					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294198	141294198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141294198C>T	ENST00000389484.3	-	46	8565	c.7594G>A	c.(7594-7596)Ggc>Agc	p.G2532S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2532	LDL-receptor class A 11.				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)		TGAGGAATGCCATCACAGGTG	0.378000										TSP Lung(27;0.18)			27	69					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150387122	150387122	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:150387122G>C	ENST00000295910.6	-	12	1512	c.1460C>G	c.(1459-1461)tCt>tGt	p.S487C	FAM194A_ENST00000491361.1_Missense_Mutation_p.S341C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	487										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTTCTGCCAGAGGAATCCAG	0.443000													42	73					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526585	173526585	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:173526585C>T	ENST00000367714.3	-	10	1531	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R268Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	370					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AACTCCCCATCGCCAATTATA	0.368000													83	237					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138417241	138417241	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:138417241C>T	ENST00000543459.1	+	5	887	c.887C>T	c.(886-888)gCt>gTt	p.A296V	THSD7B_ENST00000272643.3_Silent_p.C1464C|THSD7B_ENST00000413152.2_Silent_p.C1433C|THSD7B_ENST00000409968.1_Silent_p.C1461C					thrombospondin, type I, domain containing 7B											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)		CAGGAGGCTGCTCCCCTCAGG	0.463000													4	12					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671299	36671299	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:36671299G>A	ENST00000265113.4	+	4	964	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R163Q|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	163					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AAAATTGTACGAGTGACAGCT	0.483000													18	48					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27287908	27287908	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27287908T>G	ENST00000317338.12	-	6	1752	c.1324A>C	c.(1324-1326)Acc>Ccc	p.T442P	SEZ6_ENST00000360295.9_Missense_Mutation_p.T442P|SEZ6_ENST00000335960.6_Missense_Mutation_p.T442P|SEZ6_ENST00000442608.3_Missense_Mutation_p.T442P|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	442	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CAGTGACAGGTGAGGTTGTTG	0.602000													89	166					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29977020	29977020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29977020C>T	ENST00000376315.2	-	2	74	c.75G>A	c.(73-75)atG>atA	p.M25I	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	31					defense response to bacterium	extracellular region		p.M25I(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGTCCATCCATCCAACACT	0.463000													51	133					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55595507	55595507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:55595507C>T	ENST00000288135.5	+	14	2094	c.1997C>T	c.(1996-1998)aCc>aTc	p.T666I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	666	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTAGGGCCCACCCTGGTCATT	0.363000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				33	70					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923291	89923291	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89923291C>T	ENST00000405460.2	+	7	1032	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	312					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CTGGGAATTCCACAGCACATG	0.378000													45	66					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56006739	56006739	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:56006739G>A	ENST00000244728.5	-	11	1874	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	COL21A1_ENST00000370819.1_Missense_Mutation_p.P490S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P493S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	493	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTATTCCTGGAGATCCTGGA	0.269000													4	10					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924649	45924649	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45924649C>T	ENST00000395629.2	+	5	1631	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S444F			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	444					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCTGCCTCTCCGAGGACTCC	0.612000													36	85					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139916432	139916432	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139916432G>A	ENST00000265662.5	-	7	736	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	ABCA2_ENST00000341511.6_Missense_Mutation_p.P197S|ABCA2_ENST00000371605.3_Missense_Mutation_p.P196S|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	196					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGATGAGGGACCAAAGAGC	0.642000													6	11					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755457	49755457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49755457G>A	ENST00000535833.1	-	10	4892	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.P481L			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	481					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGCCTCCAGGGTTGTAGAG	0.642000													38	49					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66325622	66325622	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66325622C>T	ENST00000513398.1	+	0	1350				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGAAGGCCTCCCTGCACGAA	0.632000													9	36					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491558	228491558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228491558C>T	ENST00000570156.2	+	52	13995	c.13921C>T	c.(13921-13923)Cgt>Tgt	p.R4641C	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1331C|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3684	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATTCGTGGCCTGGC	0.597000													48	160					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013007	103013007	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103013007C>T	ENST00000409599.1	+	12	1643	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	IL18R1_ENST00000233957.1_Silent_p.I429I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	429	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGATGAAATCCACTCACTGA	0.353000													18	47					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849277	14849277	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14849277C>T	ENST00000261170.3	-	1	242	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	36					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACGCTGATTTCATAGCTGCCA	0.532000													24	22					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140260	40140260	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:40140260G>A	ENST00000325157.6	-	7	1498	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	416										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AAGGAGAAAAGGAAGATGCTC	0.378000													37	70					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45129940	45129940	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45129940C>T	ENST00000457685.2	-	6	3247	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ZNF334_ENST00000593880.1_Missense_Mutation_p.E703K|ZNF334_ENST00000347606.4_Missense_Mutation_p.E680K			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGAACTTATTCCTTGTGGGAT	0.308000													40	106					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421537	100421537	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100421537C>T	ENST00000358173.3	-	3	608	c.140G>A	c.(139-141)gGc>gAc	p.G47D	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.G47D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	47					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCATCCAGGCCGCTCAGTTC	0.647000													9	22					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429087	48429087	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48429087C>T	ENST00000224605.2	-	2	1064	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	267					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGAAGGGGTCGTATCTCTGC	0.701000													11	9					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436421	85436421	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:85436421G>A	ENST00000359152.5	-	1	2650	c.2651C>T	c.(2650-2652)cCt>cTt	p.P884L	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P360L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P360L|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCTTGGGGAGGGCTGGCCAC	0.478000													7	130					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513891	1513891	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:1513891G>A	ENST00000421627.2	+	3	1167	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	424					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGTGGCAAAGATGAGGAGAT	0.547000													15	31					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531843	7531843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7531843C>T	ENST00000313599.3	-	9	2159	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	CD163L1_ENST00000396630.1_Missense_Mutation_p.G701E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.G711E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	701	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCAACTTTTCCAGCACACCT	0.478000													29	59					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601668	138601668	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138601668C>T	ENST00000440172.1	-	2	2752	c.2704G>A	c.(2704-2706)Ggt>Agt	p.G902S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.G902S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G852S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	902						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCGGCGTCACCCATCAGGGTG	0.622000			O	BRAF	pilocytic astrocytoma								12	27					0	0	1	0	0
SPATA32	124783	broad.mit.edu	37	17	43331878	43331878	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43331878G>A	ENST00000543122.1	-	7	1788	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.S357L|MAP3K14-AS1_ENST00000590100.1_RNA					spermatogenesis associated 32																		TGGCGGCACTGAGCTGCAACA	0.517000													46	83					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21762882	21762882	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21762882G>A	ENST00000206660.6	+	2	132	c.132G>A	c.(130-132)gaG>gaA	p.E44E	RPGRIP1_ENST00000400017.2_Silent_p.E44E|RPGRIP1_ENST00000557771.1_Silent_p.E44E|RPGRIP1_ENST00000556336.1_Silent_p.E44E			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	44					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGAACCGGGAGGAATTGGAGG	0.408000													18	55					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633430	8633430	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:8633430G>A	ENST00000381196.4	-	11	782	c.239C>T	c.(238-240)tCa>tTa	p.S80L	PTPRD_ENST00000397617.3_Missense_Mutation_p.S80L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S80L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S80L|PTPRD_ENST00000540109.1_Missense_Mutation_p.S80L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S80L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S80L|PTPRD_ENST00000463477.1_Missense_Mutation_p.S80L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S80L|PTPRD_ENST00000360074.4_Missense_Mutation_p.S80L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S80L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S80L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	80	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGAGAACTGATCCAGACCC	0.428000										TSP Lung(15;0.13)			46	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612736	179612736	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179612736C>T	ENST00000360870.5	-	46	14613	c.14391G>A	c.(14389-14391)caG>caA	p.Q4797Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	906	Ig-like 28.						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)			TCCCACCATCCTGCTTTGGAA	0.468000													22	45					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603246	138603246	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138603246C>T	ENST00000440172.1	-	2	1174	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	KIAA1549_ENST00000422774.1_Missense_Mutation_p.D376N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D326N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	376						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATGAAACATCAGTTGGTGAA	0.512000			O	BRAF	pilocytic astrocytoma								75	151					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513029	69513029	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69513029G>C	ENST00000338206.5	-	6	1395	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	462					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAATCCAGAAGACTGCTCGAT	0.433000													67	143					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766924	60766924	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60766924C>T	ENST00000303375.5	+	24	3778	c.3376C>T	c.(3376-3378)Ccg>Tcg	p.P1126S	MRC2_ENST00000580916.1_Intron|MRC2_ENST00000446119.2_Intron	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1126					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCCCCCGCCCCGGGCACTGA	0.687000													12	22					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119282	32119282	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32119282G>A	ENST00000333892.2	-	1	269	c.239C>T	c.(238-240)tCc>tTc	p.S80F		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	80						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GTAGCAAGAGGAATAGCATCT	0.473000													63	176					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676864	7676864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7676864C>T	ENST00000446248.2	+	13	1667	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	CAMSAP3_ENST00000160298.4_Silent_p.S495S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	495	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAAGCCATCCCTGGCCTCCC	0.667000													26	56					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359816	40359816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40359816G>A	ENST00000338305.6	-	3	2778	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	746						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)					GAGACCTTCCGAGGAGGACTG	0.652000													38	88					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859532	100859532	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100859532G>A	ENST00000223127.3	-	4	812	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	138					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTGCAGAGAAGAGCAGGC	0.637000													26	94					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105168911	105168911	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:105168911G>A	ENST00000428173.2	+	19	3506	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	NRK_ENST00000243300.9_Missense_Mutation_p.R1067Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1067							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						GGAGTCGTTCGAACCAGTGAA	0.493000										HNSCC(51;0.14)			36	16					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659147	52659147	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52659147G>A	ENST00000322146.8	-	5	2310	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L597L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACGTGCTAGGCATGAGTAG	0.393000													9	288					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715665	18715665	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18715665C>T	ENST00000433979.1	+	26	3612	c.3496C>T	c.(3496-3498)Cct>Tct	p.P1166S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1207S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P1166S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1166	PI3K/PI4K.				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)				GGAGTGTTTCCCTGTTAAATT	0.378000													6	9					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518339	108518339	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:108518339C>T	ENST00000375915.2	-	1	744	c.606G>A	c.(604-606)ggG>ggA	p.G202G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	202						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTGCCCGTCCCCCCCGGCCG	0.602000													53	75					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009185	88009185	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:88009185T>C	ENST00000276127.4	+	3	1029	c.770T>C	c.(769-771)tTg>tCg	p.L257S	CPXCR1_ENST00000373111.1_Missense_Mutation_p.L257S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	257						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GTGGATATATTGACATATATC	0.333000													11	6					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569214	127569214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:127569214G>A	ENST00000304916.3	-	2	876	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	141						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCACCACCTGGAAGTTACCC	0.617000													31	45					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812277	49812277	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49812277G>A	ENST00000454748.3	-	7	1286	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	SLC6A16_ENST00000335875.4_Missense_Mutation_p.S362F			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	362						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGGCATGTAGGAGGCTAAGGA	0.473000													62	120					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180475255	180475255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180475255G>A	ENST00000327705.9	+	3	669	c.438G>A	c.(436-438)tgG>tgA	p.W146*	BTNL9_ENST00000376841.2_Nonsense_Mutation_p.W146*|BTNL9_ENST00000376842.3_Nonsense_Mutation_p.W146*|BTNL9_ENST00000515271.1_Nonsense_Mutation_p.W77*	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	146						integral to membrane		p.W146*(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|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)			AAGCTCTCTGGGAACTGGAGG	0.572000													21	55					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152522845	152522845	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152522845G>A	ENST00000397345.3	-	41	4992	c.4790C>T	c.(4789-4791)cCt>cTt	p.P1597L	NEB_ENST00000604864.1_Missense_Mutation_p.P1597L|NEB_ENST00000603639.1_Missense_Mutation_p.P1597L|NEB_ENST00000172853.10_Missense_Mutation_p.P1597L|NEB_ENST00000427231.2_Missense_Mutation_p.P1597L|NEB_ENST00000409198.1_Missense_Mutation_p.P1597L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1597					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACCAGTTTAGGATCATCCTG	0.433000													50	122					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701960	7701960	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7701960C>T	ENST00000572933.1	+	55	9943	c.8483C>T	c.(8482-8484)tCc>tTc	p.S2828F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2828F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2828	AAA 4 (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)				GCTGATGAGTCCTTCCTAGAG	0.522000													32	85					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256141	140256141	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140256141G>A	ENST00000398631.2	+	1	1084	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCAAGAGGATGCTCAGGT	0.527000													8	88					0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136939655	136939655	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:136939655G>A	ENST00000348225.2	-	2	493	c.66C>T	c.(64-66)ttC>ttT	p.F22F	PTN_ENST00000393083.2_Silent_p.F22F	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	22					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.F22F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTGCCAGTATGAAAATGAATG	0.458000													7	102					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186083152	186083152	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186083152C>T	ENST00000271588.4	+	73	11402	c.11173C>T	c.(11173-11175)Ctt>Ttt	p.L3725F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3725F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3725	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTGTAATTCTTTTAAATAA	0.423000													7	312					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022382	64022382	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64022382C>T	ENST00000540288.1	+	4	362	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	PLCB3_ENST00000279230.6_Missense_Mutation_p.R87W|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	87					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCAAGATCCGGGAAGTTCT	0.607000													26	47					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44044775	44044775	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44044775G>A	ENST00000258704.3	+	4	718	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	194										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TATTTCAGCCGAGCCGGCTTC	0.517000													22	480					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898321	36898321	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36898321C>T	ENST00000429976.2	-	12	3007	c.2760G>A	c.(2758-2760)cgG>cgA	p.R920R	TRANK1_ENST00000428977.2_Silent_p.R370R|TRANK1_ENST00000301807.6_Silent_p.R370R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	920					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGACAAGCCCCGGTTGTAGG	0.488000													39	73					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584671	145584671	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145584671C>T	ENST00000532887.1	+	5	1917	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SLC52A2_ENST00000402965.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S357F|SLC52A2_ENST00000526752.1_3'UTR|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S445F			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	445						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCCTGTGACTCCTGAGCCTGG	0.632000													72	130					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256505	186256505	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186256505A>T	ENST00000392499.2	-	4	856	c.517T>A	c.(517-519)Ttc>Atc	p.F173I	CRYGS_ENST00000307944.5_Missense_Mutation_p.F173I	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	173	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		ATGCGGCGGAAAGACTGGACA	0.542000													9	126					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167625870	167625870	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167625870C>T	ENST00000519204.1	+	15	2668	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	TENM2_ENST00000520394.1_Silent_p.I739I|TENM2_ENST00000518659.1_Silent_p.I971I|TENM2_ENST00000545108.1_Silent_p.I971I|TENM2_ENST00000403607.2_Silent_p.I795I					teneurin transmembrane protein 2																		TCGACCTGATCGCAAATGGAG	0.562000													59	100					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130428504	130428504	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130428504C>T	ENST00000373302.3	+	9	862	c.723C>T	c.(721-723)tcC>tcT	p.S241S	STXBP1_ENST00000373299.1_Silent_p.S241S	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	241					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ACCCCAGCTCCCCTGTGCTCC	0.517000													42	79					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71503549	71503549	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71503549G>A	ENST00000396073.3	+	8	858	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ENAM_ENST00000472903.1_3'UTR	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	193					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAGCAATGAAGAAGGGGG	0.423000													48	125					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13359277	13359277	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13359277G>A	ENST00000254508.5	-	40	5650	c.5568C>T	c.(5566-5568)ttC>ttT	p.F1856F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1856					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATGAGGCAGCGAAATCTAGGG	0.607000													6	18					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185093	127185093	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:127185093C>T	ENST00000371124.3	-	1	1289	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	365						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCCCATACTCCTTGAAGTCT	0.473000													6	119					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399826	46399826	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46399826G>A	ENST00000292301.4	+	2	1293	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CCR2_ENST00000400888.2_Missense_Mutation_p.E270K|CCR2_ENST00000445132.2_Missense_Mutation_p.E270K|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	270					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACCTTCCAGGAATTCTTCGG	0.473000													83	128					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149238730	149238730	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:149238730G>A	ENST00000465804.1	-	8	1321	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	WWTR1_ENST00000360632.3_Silent_p.T355T|WWTR1_ENST00000467467.1_Silent_p.T355T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	355					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAGGGAAACGGGTCTGTTGGG	0.418000			T	CAMTA1	epitheliod hemangioendothelioma								74	155					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14547233	14547233	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14547233C>T	ENST00000273083.3	-	0	2527							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGCCCCTCAGCCAGCCAG	0.682000													5	8					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203800805	203800805	+	Silent	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203800805T>A	ENST00000545588.1	+	8	4544	c.717T>A	c.(715-717)gtT>gtA	p.V239V	ZC3H11A_ENST00000367210.1_Silent_p.V239V|ZC3H11A_ENST00000367212.3_Silent_p.V239V|ZC3H11A_ENST00000367214.1_Silent_p.V239V|ZC3H11A_ENST00000332127.4_Silent_p.V239V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	239							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGGAGTTTCCAGTCTTT	0.408000													17	45					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708405	37708405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37708405C>T	ENST00000539465.1	+	4	862	c.269C>T	c.(268-270)gCt>gTt	p.A90V	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A90V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	90	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAGGCTCTGCTCACGGCAAG	0.493000													61	101					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21951979	21951979	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:21951979C>T	ENST00000289921.7	+	2	120	c.74C>T	c.(73-75)gCc>gTc	p.A25V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	25										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CTGCTGCAGGCCTTCGTGGAG	0.672000													8	87					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401615	11401615	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:11401615G>A	ENST00000002596.5	-	2	1189	c.15C>T	c.(13-15)ctC>ctT	p.L5L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	5						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCGCGCCCAGGAGCAGCGCGG	0.701000													5	6					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043377	73043377	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:73043377G>A	ENST00000604411.1	+	0	31338				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						tttatcaaatgaatcaaAAAG	0.388000													14	7					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458245	248458245	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248458245G>A	ENST00000317996.1	-	1	635	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGAGGACAGGATGAGGGAAA	0.547000													9	108					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020465	167020465	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:167020465G>A	ENST00000061240.2	+	20	3340	c.2693G>A	c.(2692-2694)aGa>aAa	p.R898K	TLL1_ENST00000507499.1_Missense_Mutation_p.R921K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	898	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCAAAACCAAGAGATCTGTAC	0.418000													71	113					0	0	1	0	0
C4orf6	10141	broad.mit.edu	37	4	5527148	5527148	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:5527148G>A	ENST00000195455.2	+	1	266	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	31					nervous system development					large_intestine(1)|prostate(1)	2						atttgggaaggaaggaacacg	0.368000													4	69					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576256	161576256	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:161576256C>T	ENST00000356592.3	+	8	1525	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	GABRG2_ENST00000414552.2_Silent_p.T395T|GABRG2_ENST00000393933.4_Silent_p.T260T|GABRG2_ENST00000361925.4_Silent_p.T355T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	355					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGTATGGCACCTTGCATTATT	0.418000													40	87					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108303444	108303444	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:108303444G>A	ENST00000370056.4	-	10	1253	c.979C>T	c.(979-981)Cct>Tct	p.P327S	VAV3_ENST00000371846.4_Missense_Mutation_p.P262S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.P327S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	327	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|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|metal ion binding|SH3/SH2 adaptor activity			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)		CGTTGCATAGGAACCACAAGC	0.323000													22	48					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705409	705409	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:705409C>T	ENST00000549091.1	+	15	1751	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.F553F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	553										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCTGCAGTTCACCGACCTGG	0.731000													6	19					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722783	46722783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46722783C>T	ENST00000318962.4	-	13	1472	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*	ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.W463*	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	463					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCCCTCTCCCAGTGGCCCG	0.667000													94	180					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378865	114378865	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:114378865C>T	ENST00000312719.5	-	5	1785	c.597G>A	c.(595-597)ggG>ggA	p.G199G	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.G199G|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	199					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTCTCCTTCCCCTCTAGCA	0.403000													230	138					0	0	1	0	0
ZNF830	91603	broad.mit.edu	37	17	33289377	33289377	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33289377T>C	ENST00000361952.3	+	1	829	c.792T>C	c.(790-792)gaT>gaC	p.D264D		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	264					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GAAAGGTTGATGCTCCAAAAG	0.468000													20	75					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703257	33703257	+	Silent	SNP	G	G	A	rs146655377		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33703257G>A	ENST00000253188.3	-	5	875	c.729C>T	c.(727-729)ttC>ttT	p.F243F		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	243					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACTGAAGGCGAAGGAGCCCT	0.627000													18	33					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2331446	2331446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2331446C>T	ENST00000301732.5	-	27	4800	c.4100G>A	c.(4099-4101)cGc>cAc	p.R1367H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R1309H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1367					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGCCAGGATGCGGGTCCTCTC	0.567000													4	141					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922624	24922624	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:24922624C>T	ENST00000329468.2	+	1	2084	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCAGTCCCTTCCACCGGGACC	0.527000													88	210					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230606	56230606	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56230606G>A	ENST00000279791.1	-	1	271	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCCCACATAGGAAATGGTTTT	0.473000													42	87					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996187	11996187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:11996187G>A	ENST00000333796.3	-	1	399	c.83C>T	c.(82-84)gCt>gTt	p.A28V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	28					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCAGCAAAAGCTGCATCTGG	0.527000													32	205					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11412162	11412162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:11412162G>A	ENST00000304623.8	-	4	496	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q12*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q103*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q12*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	103					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGCCACTGAAACTGCTCT	0.313000													47	40					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872177	213872177	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:213872177C>T	ENST00000457361.1	-	8	1656	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R	IKZF2_ENST00000374327.4_Silent_p.R351R|IKZF2_ENST00000434687.1_Silent_p.R496R|IKZF2_ENST00000342002.2_Silent_p.R502R|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Silent_p.R422R|IKZF2_ENST00000451136.2_Silent_p.R424R|IKZF2_ENST00000374319.4_Silent_p.R470R	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCAGTGGGTCCCGGTAGCCAT	0.502000													62	128					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110832	55110832	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55110832C>T	ENST00000314721.2	+	1	206	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCAGCCCCTCCTTGGGCTCCC	0.413000													14	197					0	0	1	0	0
TAF11	6882	broad.mit.edu	37	6	34847785	34847785	+	Missense_Mutation	SNP	G	G	A	rs11537996	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:34847785G>A	ENST00000361288.4	-	4	595	c.464C>T	c.(463-465)tCt>tTt	p.S155F	TAF11_ENST00000420584.2_Intron|UHRF1BP1_ENST00000452449.2_Splice_Site	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	155			S -> F (in dbSNP:rs11537996).		positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GGAAATACCAGACATAGCAAT	0.423000													19	63					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25605104	25605104	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25605104C>T	ENST00000329474.6	+	34	3985	c.3617C>T	c.(3616-3618)tCg>tTg	p.S1206L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1206					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTAGAACGGTCGGATGGAGGT	0.498000													4	17					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565592	56565592	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56565592G>A	ENST00000323777.3	-	1	153	c.44C>T	c.(43-45)cCc>cTc	p.P15L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTTGGCGGGGAAGTTGTT	0.711000													15	59					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628803	8628803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:8628803G>A	ENST00000382073.3	+	5	638	c.452G>A	c.(451-453)tGg>tAg	p.W151*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	151	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					aattggcaatggattgataag	0.363000													37	84					0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861300	34861300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34861300C>T	ENST00000314399.3	-	2	839	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	DNAJC28_ENST00000402202.1_Missense_Mutation_p.R134Q|DNAJC28_ENST00000381947.3_Missense_Mutation_p.R134Q	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	134							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TAAATAATGTCGGTGTTGGGG	0.398000													45	93					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753181	73753181	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73753181G>A	ENST00000200181.3	+	38	5398	c.5211G>A	c.(5209-5211)caG>caA	p.Q1737Q	ITGB4_ENST00000449880.2_Silent_p.Q1720Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Silent_p.Q1720Q|ITGB4_ENST00000579662.1_Silent_p.Q1667Q|ITGB4_ENST00000450894.3_Silent_p.Q1667Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1737					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGAGTCCCAGGATGGAGGTA	0.647000													41	136					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739474	28739474	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28739474C>T	ENST00000257197.3	-	2	343	c.82G>A	c.(82-84)Gat>Aat	p.D28N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D28N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	28					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGACAAGCATCGCAAAGTAAT	0.299000													13	35					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74963080	74963080	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:74963080C>T	ENST00000299727.3	+	1	576	c.576C>T	c.(574-576)ccC>ccT	p.P192P		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	192					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		AGCAGTGGCCCGACCCTCGCC	0.657000													58	127					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98229541	98229541	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:98229541A>G	ENST00000430669.2	-	15	2804	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A	PTCH1_ENST00000375274.2_Missense_Mutation_p.V805A|PTCH1_ENST00000331920.6_Missense_Mutation_p.V806A|PTCH1_ENST00000421141.1_Missense_Mutation_p.V655A|PTCH1_ENST00000437951.1_Missense_Mutation_p.V740A|PTCH1_ENST00000429896.2_Missense_Mutation_p.V655A|PTCH1_ENST00000418258.1_Missense_Mutation_p.V655A			Q13635	PTC1_HUMAN	patched 1	806					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTCTGGGTGACTATATACAT	0.413000													68	160					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528660	20528660	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20528660T>A	ENST00000315683.1	+	1	457	c.457T>A	c.(457-459)Ttt>Att	p.F153I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATAATTGGTTTTTTACACTC	0.393000													56	107					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579867	11579867	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11579867C>T	ENST00000294484.6	+	9	2268	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	PTCHD2_ENST00000389575.3_Silent_p.I710I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	710					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCATCTCATCGTGCAGCTGC	0.672000													56	109					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917090	42917090	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42917090C>T	ENST00000316161.4	-	1	543	c.219G>A	c.(217-219)ggG>ggA	p.G73G	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.G73G|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	73					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGTACTGGCCCCCTAGCTGCA	0.507000													35	71					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383200	235383200	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:235383200A>G	ENST00000264183.3	-	16	1988	c.1491T>C	c.(1489-1491)aaT>aaC	p.N497N	ARID4B_ENST00000349213.3_Silent_p.N497N|ARID4B_ENST00000366603.2_Silent_p.N497N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	497	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCAGATTTTCATTGTCTTCTG	0.333000													9	115					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739744	151739744	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151739744G>A	ENST00000321531.5	+	3	304	c.137G>A	c.(136-138)gGt>gAt	p.G46D	OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.G59D|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.G46D|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000479764.1_5'UTR			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	43					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	ACCGAGCAGGGTAACCACGAC	0.542000													5	173					0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32120026	32120026	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:32120026C>T	ENST00000054950.3	+	3	872	c.579C>T	c.(577-579)gcC>gcT	p.A193A	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Silent_p.A142A	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	193	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AGTTCACTGCCTTTCTGCATC	0.458000													24	57					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60758132	60758132	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:60758132C>T	ENST00000395076.4	+	5	1509	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	PPM1A_ENST00000529574.1_Missense_Mutation_p.A360V|PPM1A_ENST00000325642.3_Missense_Mutation_p.A433V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	360					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTTATTGAAGCCGTTTACAAT	0.353000													24	69					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741350	207741350	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207741350G>A	ENST00000367049.4	+	25	4134	c.4134G>A	c.(4132-4134)ggG>ggA	p.G1378G	CR1_ENST00000400960.2_Silent_p.G928G|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Silent_p.G928G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.G928G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	928	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGGGAATGGGGTTTGGAGCA	0.542000													81	112					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141897	29141897	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29141897C>T	ENST00000377167.2	+	1	587	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTCATTCCTCCTTTACTTTC	0.468000													175	200					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804573	54804573	+	Silent	SNP	C	C	T	rs142915319	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:54804573C>T	ENST00000306858.7	+	5	920	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	268										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGTTGAGTCCTTTGATGAAG	0.403000													39	118					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397816	125397816	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125397816G>A	ENST00000521654.2	+	4	1295	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.R197Q|RNF217_ENST00000359704.2_Missense_Mutation_p.R140Q|RNF217_ENST00000275184.6_Missense_Mutation_p.R76Q			Q8TC41	RN217_HUMAN	ring finger protein 217	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CACATCCAGCGAACTGAAGGA	0.413000													21	53					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223203	67223203	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67223203C>T	ENST00000325656.5	+	1	386	c.309C>T	c.(307-309)tcC>tcT	p.S103S	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	103					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTCCTGACTCCCTGCACGACG	0.677000													12	11					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382463	41382463	+	Missense_Mutation	SNP	G	G	A	rs138399387		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41382463G>A	ENST00000377801.3	-	2	351	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R93C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	93	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCAAAATAACGAATTCCAGCT	0.438000													35	101					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74644072	74644072	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74644072C>T	ENST00000536019.1	+	7	1208	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	MCU_ENST00000357157.6_Missense_Mutation_p.H283Y|MCU_ENST00000373053.3_Missense_Mutation_p.H304Y|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	304					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACTATTTTTCCATAAAGGAGC	0.328000													7	97					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346708	72346708	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:72346708C>T	ENST00000299687.5	+	1	3733	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S	ZNF407_ENST00000577538.1_Missense_Mutation_p.P1245S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1245S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1245S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGTGTTGTCCCCCACAGACA	0.542000													16	52					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479157	66479157	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:66479157G>A	ENST00000256447.4	-	3	1671	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	505					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAGACCACAAGAGGACAAAAT	0.473000													27	46					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263189	55263189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55263189G>A	ENST00000342376.3	+	6	835	c.804G>A	c.(802-804)tgG>tgA	p.W268*	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ttcATCGCTGGTGCTGCAACA	0.527000													41	82					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20598114	20598114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20598114G>A	ENST00000504154.1	+	32	3649	c.3397G>A	c.(3397-3399)Gga>Aga	p.G1133R	SLIT2_ENST00000273739.5_Missense_Mutation_p.G1146R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1125R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1129R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1133	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.G1133*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTGTCAGAATGGAGCTCAGTG	0.398000													32	90					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186089151	186089151	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186089151C>T	ENST00000271588.4	+	80	12332	c.12103C>T	c.(12103-12105)Cat>Tat	p.H4035Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.H4035Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4035	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCAGAAACCATGCAGTTCT	0.453000													35	142					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37480408	37480408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37480408C>T	ENST00000379066.1	-	19	3347	c.2585G>A	c.(2584-2586)tGg>tAg	p.W862*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.W862*			O94806	KPCD3_HUMAN	protein kinase D3	862					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)				ATGTATTTCCCAGCGAGCATC	0.393000													47	82					0	0	1	0	0
STRA13	201254	broad.mit.edu	37	17	79980701	79980701	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79980701C>T	ENST00000392359.3	-	1	93		c.e1+1		STRA13_ENST00000584347.1_Splice_Site|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site|STRA13_ENST00000580435.1_Splice_Site	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13						DNA repair	chromosome, centromeric region|Fanconi anaemia nuclear complex	DNA binding|protein binding					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCGGCCCTCACCTTCCGGAAG	0.741000													7	24					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627264	37627264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37627264C>T	ENST00000447079.4	+	2	1212	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	CDK12_ENST00000430627.2_Silent_p.S393S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	393					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTTAATTCCAGTCTGGGAG	0.448000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			39	67					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159505705G>A	ENST00000334857.2	-	1	137	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000													91	118					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226777	43226777	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43226777G>A	ENST00000259750.4	+	11	1101	c.1016_splice	c.e11-1	p.V340_splice	TTBK1_ENST00000304139.5_Splice_Site_p.V289_splice	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	340						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTCTCCAGGGTGGTCAATGT	0.642000													15	53					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698142	34698142	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34698142G>A	ENST00000360581.1	+	1	246	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NPSR1_ENST00000381539.3_Missense_Mutation_p.E40K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E40K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.E40K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E40K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.E40K|NPSR1_ENST00000531252.1_Missense_Mutation_p.E40K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	40						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAAGGAAAGGAATGGGGTTC	0.478000													28	70					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964386	28964386	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:28964386T>A	ENST00000417404.1	+	0	4644				SMURF2P1_ENST00000578265.1_RNA																							TAAATATTGGTTTTTTACTTA	0.279000													10	20					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093451	30093451	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:30093451C>T	ENST00000567636.1	+	0	1826					NR_003558.1																						CGGCTTGATTCAGCGATCCAA	0.542000													95	177					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527356	97527356	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97527356C>T	ENST00000305476.5	-	14	1764	c.1632G>A	c.(1630-1632)tcG>tcA	p.S544S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	544	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTGAAGTGTCCGAGGTCATCA	0.562000													87	148					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164456	26164456	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26164456G>A	ENST00000335473.7	+	4	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	MYO18B_ENST00000536101.1_Silent_p.K191K|MYO18B_ENST00000407587.2_Silent_p.K191K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	191						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GAAAGGAAAAGAAAGGGGAGA	0.617000													15	15					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532650	100532650	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:100532650G>A	ENST00000372907.3	-	9	904	c.893C>T	c.(892-894)cCa>cTa	p.P298L	TAF7L_ENST00000372905.2_Missense_Mutation_p.P212L|TAF7L_ENST00000356784.1_Missense_Mutation_p.P212L|TAF7L_ENST00000324762.6_Missense_Mutation_p.P212L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	298					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAAAAATCCTGGGATGGAGCC	0.458000													102	55					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19188847	19188847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19188847C>T	ENST00000263200.10	-	23	3830	c.3758G>A	c.(3757-3759)tGg>tAg	p.W1253*	CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1253*|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1253*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1253	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACCTCCTTCCACGTCCGGGT	0.607000			T	?	ALCL								11	15					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111938843	111938843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:111938843G>A	ENST00000374566.3	-	25	3138	c.2621C>T	c.(2620-2622)tCt>tTt	p.S874F		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	874						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTGCCAGAGAAACAGGTTT	0.562000													4	84					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896073	23896073	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23896073C>T	ENST00000355349.3	-	18	2119	c.1956_splice	c.e18-1	p.E653_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	653	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGATTTTCCTGTGGCCAA	0.438000													16	30					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450615	41450615	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41450615G>A	ENST00000599198.1	+	0	1206					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCCTTCCTCAGGACACGGAAG	0.453000													8	127					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109054	21109054	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21109054G>A	ENST00000320704.3	-	1	796	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ACCACTCTGCGATGGCCGCAC	0.478000													47	93					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504680	157504680	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:157504680G>A	ENST00000361835.3	-	8	1562	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	FCRL5_ENST00000368189.3_Missense_Mutation_p.P469S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P469S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P469S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P384S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	469						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGACACAGGGACTGAGGAA	0.502000													21	62					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272454	158272454	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158272454C>T	ENST00000264192.3	-	8	936	c.815G>A	c.(814-816)gGt>gAt	p.G272D	CYTIP_ENST00000540637.1_Missense_Mutation_p.G166D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	272	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ACTGAAGGCACCCCTGCTGGA	0.537000													11	107					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237349767	237349767	+	Splice_Site	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:237349767T>G	ENST00000409907.3	-	7	1201	c.926_splice	c.e7-1	p.R309_splice	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Splice_Site_p.R305_splice|IQCA1_ENST00000431676.2_Splice_Site_p.R309_splice			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	309							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CGGTTAAATTTCTGCAGGAAA	0.348000													3	6					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155252561	155252561	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:155252561G>A	ENST00000392825.3	+	10	1782	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.L405L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	405						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GAGAAAATCTGAAGTGTAAGC	0.368000													21	46					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364609	142364609	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142364609G>A	ENST00000390397.2	+	0	280																											GATCTCTGATGGATACAGTGT	0.463000													23	74					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252393	145252393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:145252393C>T	ENST00000377976.1	-	1	138	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	47										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTATTCCTCCTTTGGTGAC	0.498000													52	146					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824228	2824228	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2824228C>T	ENST00000602557.1	-	59	9522	c.8967G>A	c.(8965-8967)atG>atA	p.M2989I	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.M2988I|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.M2989I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2989	Sushi 23.					integral to membrane		p.M2988I(1)|p.M2717I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACTGACAATCATTCCGTTGG	0.532000													12	26					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521638	125521638	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:125521638T>A	ENST00000431078.1	+	16	2808	c.2444T>A	c.(2443-2445)aTt>aAt	p.I815N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	815	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTGCCGATATTTCCTTCTTT	0.413000													12	123					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917207	99917207	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99917207G>A	ENST00000332397.6	+	9	1550	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	SPDYE3_ENST00000437326.2_Missense_Mutation_p.E79K	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	456										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CAATGACATGGAGGAGGACGA	0.552000													35	207					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33325292	33325292	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33325292G>A	ENST00000378526.4	+	13	2099	c.1966G>A	c.(1966-1968)Ggg>Agg	p.G656R	LIG3_ENST00000262327.5_Missense_Mutation_p.G656R	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	656					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGGATTGGAGGGGCTGGTGCT	0.567000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	48					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32526962	32526962	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32526962C>T	ENST00000428783.1	+	0	662																											TCGTCCGGATCGCCAGTCTGG	0.647000													10	14					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078534	6078534	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6078534C>T	ENST00000261405.5	-	45	7826	c.7572G>A	c.(7570-7572)ccG>ccA	p.P2524P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2524					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGGTTCTCCGGGGAGGCCC	0.607000													4	106					0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220870028	220870028	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:220870028C>T	ENST00000294889.5	+	2	942	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	128						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		CAGCCTACTCCGCCCCGTTTG	0.577000													92	113					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266297	3266297	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3266297C>T	ENST00000576468.1	+	0	418																											GGGTCCCATCCACAAAGGGAA	0.507000													20	61					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29843806	29843806	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:29843806G>A	ENST00000375398.2	-	7	515	c.66C>T	c.(64-66)ctC>ctT	p.L22L	SVIL_ENST00000355867.4_Silent_p.L22L|SVIL_ENST00000375400.3_Silent_p.L22L			O95425	SVIL_HUMAN	supervillin	22	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCTCTGCAAGAGGATGGGCT	0.557000													24	51					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6475493	6475493	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:6475493G>T	ENST00000276893.5	+	5	1134	c.966G>T	c.(964-966)aaG>aaT	p.K322N		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	322					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CAGATGGAAAGTTTTTAAGTA	0.343000													9	105					0.000442599	0.000443843	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119101170	119101170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:119101170C>T	ENST00000264245.4	+	5	995	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	155	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACACCTGGCCCATATCGCCTC	0.522000													60	121					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118390796	118390796	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:118390796G>A	ENST00000537242.1	+	0	771				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTTTCCAAATGGAGGAAAGGA	0.413000													11	2					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901598	215901598	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:215901598G>A	ENST00000366943.2	-	61	12226	c.11840C>T	c.(11839-11841)tCc>tTc	p.S3947F	USH2A_ENST00000307340.3_Missense_Mutation_p.S3947F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3947	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAACCCTTGGAGTTACAGGC	0.483000										HNSCC(13;0.011)			40	111					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062827	76062827	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:76062827G>T	ENST00000416245.1	+	3	1141	c.48G>T	c.(46-48)ctG>ctT	p.L16L	ZP3_ENST00000394857.3_Silent_p.L192L|ZP3_ENST00000336517.4_Silent_p.L141L			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	192					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCTTCCACCTGGGAGATGCAG	0.597000													26	272					1.2476e-16	1.25882e-16	1	1	0
FLT3	2322	broad.mit.edu	37	13	28636143	28636143	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28636143C>T	ENST00000380982.4	-	3	310	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FLT3_ENST00000241453.7_Missense_Mutation_p.E77K|FLT3_ENST00000537084.1_Missense_Mutation_p.E77K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	77					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGGCAGCTTCGTACACTGTC	0.522000			"""Mis, O"""		"""AML, ALL"""								36	84					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766492	62766492	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:62766492C>T	ENST00000336232.2	-	5	797	c.662G>A	c.(661-663)gGc>gAc	p.G221D	SLC22A8_ENST00000545207.1_Missense_Mutation_p.G130D|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G221D|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G98D|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G221D	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	221					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AATGAACTGGCCAAAGGTGTA	0.572000													31	99					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954858	56954858	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56954858G>A	ENST00000497933.1	+	2	1077	c.930G>A	c.(928-930)gtG>gtA	p.V310V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	280	Poly-Glu.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGGCTTCGTGGTCTCCATTG	0.577000													6	119					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107520032	107520032	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:107520032G>A	ENST00000415149.2	+	16	2879	c.2552G>A	c.(2551-2553)gGg>gAg	p.G851E	BBX_ENST00000402543.1_Missense_Mutation_p.G831E|BBX_ENST00000325805.8_Missense_Mutation_p.G881E|BBX_ENST00000416476.2_Missense_Mutation_p.G545R|BBX_ENST00000406780.1_Missense_Mutation_p.G851E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCGAGGTCGGGGAGACGCGG	0.517000													30	55					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329830	125329830	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125329830G>A	ENST00000304865.2	-	1	1008	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTGCTTCCTAGGATCTCTTGC	0.438000													43	104					0	0	1	0	0
OR6W1P	89883	broad.mit.edu	37	7	142759843	142759843	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142759843G>A	ENST00000496192.1	-	0	683					NR_002140.1															central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GCATCCAGAGGAGGAAGGGAT	0.557000													4	25					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830250	147830250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:147830250G>A	ENST00000513335.1	-	6	605	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	TTC29_ENST00000398886.4_Silent_p.L136L|TTC29_ENST00000325106.4_Silent_p.L110L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	110							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGCTCCTCCAGGGGCTTCTGC	0.572000													42	79					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845914	44845914	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:44845914G>A	ENST00000225512.5	-	4	1002	c.840C>T	c.(838-840)tcC>tcT	p.S280S		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	280					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AAAAGTTGGGGGAGTTCTCGT	0.602000													51	118					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65315410	65315410	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65315410G>A	ENST00000301873.5	-	12	2095	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P	LTBP3_ENST00000536982.1_Silent_p.P235P|LTBP3_ENST00000322147.4_Silent_p.P609P|LTBP3_ENST00000532932.1_Silent_p.P39P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	609	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGCGGTGCTGGGGATGTGACC	0.652000													32	87					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478966	21478966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:21478966C>T	ENST00000313654.9	+	46	6014	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W	LAMA3_ENST00000269217.6_Missense_Mutation_p.R316W|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R1925W|LAMA3_ENST00000587184.1_Missense_Mutation_p.R316W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1925	Domain II and I.				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)	CAATGTTAATCGGGCAACACA	0.313000													29	45					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860911	13860911	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13860911C>G	ENST00000285018.4	-	4	884	c.580G>C	c.(580-582)Gag>Cag	p.E194Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	194					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TTCATGTTCTCCTCCAGGATC	0.652000													36	113					0	0	1	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185434463	185434463	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:185434463G>A	ENST00000296270.1	+	2	432	c.296G>A	c.(295-297)aGg>aAg	p.R99K	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATCTGGTTAAGGAGAGTGTAT	0.537000													20	47					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971079	123971079	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123971079C>T	ENST00000369005.1	+	9	7479	c.7139C>T	c.(7138-7140)cCc>cTc	p.P2380L	TACC2_ENST00000369004.3_Missense_Mutation_p.P458L|TACC2_ENST00000368999.1_Missense_Mutation_p.P458L|TACC2_ENST00000358010.1_Missense_Mutation_p.P526L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2335L|TACC2_ENST00000369001.1_Missense_Mutation_p.P84L|TACC2_ENST00000260733.3_Missense_Mutation_p.P458L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2380L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2384L|TACC2_ENST00000513429.1_Missense_Mutation_p.P526L|TACC2_ENST00000360561.3_Missense_Mutation_p.P458L|TACC2_ENST00000369000.1_Missense_Mutation_p.P84L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2384L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2380	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCGTTGACCCCTTTAAGACA	0.498000													5	247					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014802	75014802	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75014802C>T	ENST00000379727.3	-	2	835	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CYP1A1_ENST00000567032.1_Missense_Mutation_p.E213K|CYP1A1_ENST00000395048.2_Missense_Mutation_p.E213K|CYP1A1_ENST00000395049.4_Missense_Mutation_p.E213K|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	213					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTAAGCAGTTCTTGGTGGTTG	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				36	67					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.						ATP binding	p.R816C(1)									CAAGGCCAACCGCGAGAAGAT	0.612000													13	321					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135035	11135035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11135035C>T	ENST00000358026.2	+	21	3286	c.3002C>T	c.(3001-3003)tCt>tTt	p.S1001F	SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1001F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1001F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1001F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1001F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1001F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1001					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCGACATGTCTGCGCTGCAG	0.622000			"""F, N, Mis"""		NSCLC								30	61					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856544	89856544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:89856544C>T	ENST00000287908.3	+	3	1145	c.752C>T	c.(751-753)cCt>cTt	p.P251L	STEAP2_ENST00000394622.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394621.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394632.1_Missense_Mutation_p.P251L|STEAP2_ENST00000402625.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394629.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394626.1_Missense_Mutation_p.P251L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	251					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TACAAAATTCCTATAGAGATT	0.373000													70	115					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536578	44536578	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44536578C>T	ENST00000187879.8	+	4	913	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	ZNF222_ENST00000391960.3_Missense_Mutation_p.H291Y|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TCACAGAATTCATACTGGGGA	0.393000													64	129					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535626	45535626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45535626C>T	ENST00000291576.7	+	7	788	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	221						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGACACGCCCCCCGAGGGCTT	0.662000													5	135					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150069	71150069	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71150069G>A	ENST00000355527.3	-	7	963	c.687C>T	c.(685-687)atC>atT	p.I229I	DHCR7_ENST00000407721.2_Silent_p.I229I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	229					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACCACTTCCCGATCCGAGGGT	0.473000									Smith-Lemli-Opitz syndrome				29	64					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91699403	91699403	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:91699403C>T	ENST00000359028.2	+	28	6651	c.6426C>T	c.(6424-6426)ctC>ctT	p.L2142L	AKAP9_ENST00000358100.2_Silent_p.L2142L|AKAP9_ENST00000356239.3_Silent_p.L2130L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2142	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTTTTGCTCTCTAAAGAGC	0.348000			T	BRAF	papillary thyroid								69	187					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642700	179642700	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179642700G>A	ENST00000589042.1	-	25	4435	c.4211C>T	c.(4210-4212)tCt>tTt	p.S1404F	TTN_ENST00000359218.5_Missense_Mutation_p.S1358F|TTN_ENST00000591111.1_Missense_Mutation_p.S1404F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S1404F|TTN_ENST00000460472.2_Missense_Mutation_p.S1358F|TTN_ENST00000342175.6_Missense_Mutation_p.S1358F|TTN_ENST00000360870.5_Missense_Mutation_p.S1404F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1404							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)			TGGAGAGAGAGATCTGCAAAA	0.423000													11	24					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206393	55206393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55206393C>T	ENST00000201031.2	+	2	424	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	61	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACCCTACTTTCCCCCTCCCTA	0.701000													9	76					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599163	29599163	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29599163G>A	ENST00000431530.3	+	1	416	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	110						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAACTCAATGAAGAGCACAC	0.512000													29	47					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648759	196648759	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196648759C>T	ENST00000367429.4	+	6	866	c.626C>T	c.(625-627)tCa>tTa	p.S209L	CFH_ENST00000439155.2_Missense_Mutation_p.S209L|CFH_ENST00000359637.2_Missense_Mutation_p.S145L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	209	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTAGAAATTTCATGCAAATCC	0.284000													23	38					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133052636	133052636	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133052636G>A	ENST00000392393.3	-	3	447	c.375C>T	c.(373-375)tcC>tcT	p.S125S	VNN3_ENST00000414302.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392394.2_Silent_p.S125S|VNN3_ENST00000367927.5_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000417437.2_Intron					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAGCTCTTTGGAAACAGGCT	0.413000													4	115					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399589	124399589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124399589C>T	ENST00000338354.3	+	52	6695	c.6589C>T	c.(6589-6591)Ctc>Ttc	p.L2197F	DMBT1_ENST00000368955.3_Missense_Mutation_p.L2187F|DMBT1_ENST00000344338.3_Missense_Mutation_p.L2187F|DMBT1_ENST00000359586.6_Missense_Mutation_p.L917F|DMBT1_ENST00000368909.3_Missense_Mutation_p.L2197F|DMBT1_ENST00000330163.4_Missense_Mutation_p.L1569F|DMBT1_ENST00000368956.2_Missense_Mutation_p.L1569F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2197	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTCCAACTTCCTCACAGCAGC	0.522000													27	65					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948718	948718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:948718G>A	ENST00000217260.4	-	2	239	c.143C>T	c.(142-144)tCc>tTc	p.S48F	RSPO4_ENST00000400634.2_Missense_Mutation_p.S48F	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	48					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGCAGGTGGAACAGCCGTT	0.637000													54	79					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100370990	100370990	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100370990G>A	ENST00000542585.1	+	0	5656				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAACCCGAGGGACTGCCCCA	0.587000													7	159					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42700003	42700003	+	Missense_Mutation	SNP	G	G	C	rs45477803	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:42700003G>C	ENST00000230882.4	+	6	707	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	GHR_ENST00000357703.3_Missense_Mutation_p.V151L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	173	Fibronectin type-III.		V -> G (in LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATATCCAAGTGAGATGGGA	0.408000													22	120					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31661270	31661270	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:31661270C>T	ENST00000295770.2	+	9	1484	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	STT3B_ENST00000453168.1_Intron	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	425					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATGTACCTTCCCAGCAGGCC	0.348000													23	50					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54185980	54185980	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:54185980G>A	ENST00000375180.2	-	2	825	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	FAM120C_ENST00000328235.4_Missense_Mutation_p.L257F	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	257										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGGCAAGAAGGCCATGGAAG	0.478000													33	21					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176913084	176913084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176913084C>T	ENST00000367654.2	-	14	2357	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E774K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E774K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E774K			O14525	ASTN1_HUMAN	astrotactin 1	782					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						CATTGATTCTCCAGGGGCACA	0.522000													5	82					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386140	50386140	+	Silent	SNP	C	C	T	rs146598967	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50386140C>T	ENST00000221543.5	+	8	1217	c.918C>T	c.(916-918)atC>atT	p.I306I	TBC1D17_ENST00000535102.2_Silent_p.I273I	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	306						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACCGGATCTTCTCGGGGG	0.667000													30	66					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117325	46117325	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46117325G>A	ENST00000400365.3	+	1	239	c.209G>A	c.(208-210)aGc>aAc	p.S70N	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	70	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGTGAGCCCAGCCCCTGCCAA	0.706000													13	290					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190326	59190326	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59190326C>T	ENST00000302040.4	-	1	123	c.101G>A	c.(100-102)gGg>gAg	p.G34E		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GAGGTAGAGCCCCAGAAATAA	0.448000													23	89					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487244	248487244	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248487244G>A	ENST00000317965.2	-	1	655	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCAACAGGGAAAACAAGCA	0.418000													7	476					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532496	1532496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1532496C>T	ENST00000381623.3	-	2	1451	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E88K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	88	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCTCCAATCTCTTTTACTCTG	0.453000													42	72					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037604	64037604	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64037604G>A	ENST00000544785.1	-	2	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						AGGCCTGAGGGAAGTACTTCC	0.602000													12	19					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656826	46656826	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46656826G>A	ENST00000544460.1	+	1	1215	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	TDRD6_ENST00000316081.6_Missense_Mutation_p.G321S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	321	Tudor 2.				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)			TGCATCCTGTGGCCTGGATGG	0.592000													27	85					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398383	1398383	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1398383G>A	ENST00000324385.5	+	34	3622	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1092K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1097K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1137K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1084K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1120K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1137K	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1155					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)				CTTGCAGTGAGATCTGCGCTG	0.672000													9	26					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045809	26045809	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26045809G>A	ENST00000540144.1	+	1	171	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	57					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCTACCAGAAGTCCACCGAGC	0.632000													5	187					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377733	124377733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124377733G>A	ENST00000338354.3	+	38	4811	c.4705G>A	c.(4705-4707)Gga>Aga	p.G1569R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1559R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1559R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G420R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1569R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G941R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G941R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1569	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGGGCTCAGGACCCATTGT	0.597000													8	344					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43945558	43945558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43945558G>A	ENST00000343694.3	+	12	1585	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RBPJL_ENST00000372743.1_Missense_Mutation_p.E504K|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	505	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CATCCATCAGGAGTTCACGCG	0.716000													17	165					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026453	61026453	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61026453G>A	ENST00000335613.5	-	20	2948	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	VWCE_ENST00000535710.1_Silent_p.A319A	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	854	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTAGAGTGGGGGCTCCTGGAG	0.652000													26	37					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436061	72436061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72436061G>A	ENST00000392627.1	+	2	1407	c.281G>A	c.(280-282)tGg>tAg	p.W94*	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Nonsense_Mutation_p.W61*|GPRC5C_ENST00000481232.1_Nonsense_Mutation_p.W94*	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	49						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTGGGGCGTGGGGCATCGTC	0.657000													30	117					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844484	55844484	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:55844484C>T	ENST00000422046.2	-	11	1538	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	CES1_ENST00000360526.3_Silent_p.L421L|CES1_ENST00000361503.4_Silent_p.L420L			P23141	EST1_HUMAN	carboxylesterase 1	420					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CATCTGCTATCAAGTCCAGGA	0.493000													56	60					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202058	55202058	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:55202058G>A	ENST00000396834.1	+	11	1633	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	IL31RA_ENST00000490985.1_Silent_p.E256E|IL31RA_ENST00000297015.3_Silent_p.E256E|IL31RA_ENST00000396836.2_Silent_p.E398E|IL31RA_ENST00000447346.2_Silent_p.E398E|IL31RA_ENST00000354961.4_Silent_p.E379E|IL31RA_ENST00000359040.5_Silent_p.E398E	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	366	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGACTCAGAGCCCACCACCC	0.557000													36	61					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128403753	128403753	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:128403753G>A	ENST00000368227.3	-	10	1972	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S	PTPRK_ENST00000368226.4_Missense_Mutation_p.P536S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P536S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.P536S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P536S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.P536S|PTPRK_ENST00000368215.3_Missense_Mutation_p.P536S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	536	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|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)		GGAACTGCAGGATCAAATGAT	0.373000													10	40					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382112	109382112	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:109382112C>T	ENST00000283195.6	+	20	5243	c.5117C>T	c.(5116-5118)tCt>tTt	p.S1706F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1706					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACACCTGCCTCTTCAGAGACA	0.433000													37	98					0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3384964	3384964	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3384964C>T	ENST00000263080.2	+	2	462	c.304C>T	c.(304-306)Cca>Tca	p.P102S	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P102S	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	102					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTATTTGGTCCAAAAGACAG	0.353000													21	41					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734143	28734143	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:28734143C>T	ENST00000550043.1	+	0	548																											AAATATTCCCCCCAAGGAGTT	0.473000													38	75					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306822	129306822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:129306822G>A	ENST00000281437.4	+	2	460	c.364G>A	c.(364-366)Gag>Aag	p.E122K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	122										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CAGCGAGTCAGAGACGGAACA	0.662000													21	20					0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97362045	97362045	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97362045A>C	ENST00000319273.5	+	2	418	c.121A>C	c.(121-123)Aag>Cag	p.K41Q	TAC1_ENST00000350485.4_Missense_Mutation_p.K41Q|TAC1_ENST00000346867.4_Missense_Mutation_p.K41Q	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	41					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	CGACCAGATCAAGGTGAGGCC	0.562000													38	134					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564074	228564074	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228564074G>A	ENST00000258403.3	-	3	428	c.357C>T	c.(355-357)gcC>gcT	p.A119A	SLC19A3_ENST00000541617.1_Silent_p.A115A|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	119					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AGGCCACCTCGGCGGCGGTGA	0.562000													13	205					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	79639008	79639008	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:79639008G>A	ENST00000464233.1	-	2	167	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	18					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTGATTTGGGGATAAGCTGA	0.403000													53	118					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187517744	187517744	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187517744G>A	ENST00000441802.2	-	25	13159	c.12950C>T	c.(12949-12951)cCt>cTt	p.P4317L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4317					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTGTCAGAAGGGGAGTTTGA	0.532000										HNSCC(5;0.00058)			6	57					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45822920	45822920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45822920C>T	ENST00000221476.3	-	2	226	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	18	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.E18*(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTACTCCTCCTCAGGCTTG	0.527000													10	181					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801731	9801731	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9801731G>A	ENST00000457674.2	-	5	966	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCAAGATCTGGAGTTAAGGTG	0.373000													29	59					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361140	107361140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107361140C>T	ENST00000374779.2	-	1	648	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M185I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGCCAGTTTCATGACAGCTA	0.398000													6	215					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110422863	110422863	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:110422863G>A	ENST00000392589.1	-	10	2286	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	WASF1_ENST00000392586.1_Missense_Mutation_p.P484S|WASF1_ENST00000359451.2_Missense_Mutation_p.P484S|WASF1_ENST00000392587.2_Missense_Mutation_p.P484S|WASF1_ENST00000392588.1_Missense_Mutation_p.P484S	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	484					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TGGCGCTTTGGCTCAGAAGCA	0.488000													115	48					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389932	27389932	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:27389932C>T	ENST00000379214.4	-	18	2781	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	LGR4_ENST00000389858.4_Missense_Mutation_p.E756K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	780						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTCATTATTTCGGGGCTGATA	0.403000													69	117					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601504	61601504	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61601504G>A	ENST00000583023.1	+	2	92	c.81G>A	c.(79-81)cgG>cgA	p.R27R	KCNH6_ENST00000456941.2_Silent_p.R27R|KCNH6_ENST00000581784.1_Silent_p.R27R|KCNH6_ENST00000580652.1_Silent_p.R27R|KCNH6_ENST00000314672.5_Silent_p.R27R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	27					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCCAGGTCGGAAGTTCCTGA	0.562000													24	459					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974361	49974361	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49974361C>T	ENST00000555099.1	+	1	419	c.387C>T	c.(385-387)caC>caT	p.H129H		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	129					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						AGCCCTTGCACTATACCACCG	0.468000													54	106					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76462208	76462208	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:76462208A>T	ENST00000388942.3	+	6	784	c.508A>T	c.(508-510)Ata>Tta	p.I170L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	170						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CGAAAACAAAATAGAGGTAAA	0.498000													21	203					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097536	75097536	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75097536A>T	ENST00000326665.5	-	7	898	c.680T>A	c.(679-681)aTt>aAt	p.I227N	C1orf173_ENST00000420661.2_Missense_Mutation_p.I30N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	227								p.I227S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTAACTGTTAATGTTTGGAAG	0.398000													36	111					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588902	33588902	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:33588902C>T	ENST00000504830.1	-	18	3002	c.2667G>A	c.(2665-2667)ggG>ggA	p.G889G	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.G804G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	889	TSP type-1 3.				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						CTTCCCACTCCCCTGCCCACC	0.577000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	65					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131498747	131498747	+	Silent	SNP	C	C	T	rs144882598	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:131498747C>T	ENST00000261654.5	+	13	1894	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577000													34	61					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565591	56565591	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56565591G>A	ENST00000323777.3	-	1	154	c.45C>T	c.(43-45)ccC>ccT	p.P15P		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCTTGGCGGGGAAGTTGT	0.716000													15	60					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38061707	38061707	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38061707C>T	ENST00000463876.1	-	2	587	c.234G>A	c.(232-234)aaG>aaA	p.K78K	PLCD1_ENST00000334661.4_Silent_p.K57K	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	57	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCCGCATGACCTTGCGGGACT	0.592000													49	96					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36763251	36763251	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:36763251G>A	ENST00000399881.3	+	20	2072	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	679						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTAGAACAAGATTCTGACCA	0.418000													10	138					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53736799	53736799	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:53736799A>G	ENST00000288139.3	+	9	1470	c.1352A>G	c.(1351-1353)gAg>gGg	p.E451G	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E451G|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E451G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	451					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATCGATCCGGAGAATGAGGAA	0.552000													21	41					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103226	6103226	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6103226G>A	ENST00000261405.5	-	37	6654	c.6400C>T	c.(6400-6402)Ccc>Tcc	p.P2134S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2134	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGCTGTCGGGGACAAGACAC	0.582000													19	51					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804174	27804174	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27804174G>A	ENST00000408964.2	+	1	4786	c.4735G>A	c.(4735-4737)Gag>Aag	p.E1579K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1579	Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTTGGAGAGAAGACA	0.552000													66	152					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23012350	23012350	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23012350A>T	ENST00000337451.3	-	7	989	c.377T>A	c.(376-378)aTg>aAg	p.M126K	NIPA2_ENST00000398013.3_Missense_Mutation_p.M126K|NIPA2_ENST00000398014.2_Missense_Mutation_p.M126K|NIPA2_ENST00000359727.4_Missense_Mutation_p.M107K|NIPA2_ENST00000539711.2_Missense_Mutation_p.M107K	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	126						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		ATGAATGACCATAACTGTAGA	0.363000													26	76					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087899	31087899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31087899C>T	ENST00000394979.2	+	1	677	c.254C>T	c.(253-255)tCc>tTc	p.S85F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S85F			O15015	ZN646_HUMAN	zinc finger protein 646	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGGACTTCTCCAATCCCATG	0.637000													30	81					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814048	248814048	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248814048G>A	ENST00000344889.3	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATGAGAATGATCTTGACCA	0.532000													14	49					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428302	54428302	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54428302C>T	ENST00000566473.2	+	4	373	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R125W			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	125										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGAACTGATCGGCTGAGTCT	0.423000													16	67					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467686	10467686	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:10467686C>T	ENST00000382483.3	-	4	4145	c.3922G>A	c.(3922-3924)Gaa>Aaa	p.E1308K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1308					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		tctgttccttcttTAGTTTCC	0.493000													37	88					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135796822	135796822	+	Splice_Site	SNP	G	G	A	rs118203425		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135796822G>A	ENST00000298552.3	-	8	886	c.663_splice	c.e8-1	p.P222_splice	TSC1_ENST00000440111.2_Splice_Site_p.P222_splice|TSC1_ENST00000403810.1_Splice_Site_p.P222_splice|TSC1_ENST00000545250.1_Splice_Site_p.P171_splice	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	222					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCCATCATTGGCTAGAAGAG	0.378000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				17	66					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44161207	44161207	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44161207G>A	ENST00000262726.7	-	5	671	c.418C>T	c.(418-420)Cta>Tta	p.L140L	EFCAB6_ENST00000356087.4_Silent_p.L34L|EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000358439.4_Silent_p.L34L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTATATATAGGTCAATTCCA	0.408000													8	138					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073878	5073878	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5073878C>T	ENST00000574788.1	+	36	5852	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	USP6_ENST00000250066.6_Missense_Mutation_p.R1208W|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R891W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1208					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGAGGCTCCGGCTGCCCCA	0.527000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								24	44					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316298	45316298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:45316298C>A	ENST00000313237.5	-	3	343	c.193G>T	c.(193-195)Gga>Tga	p.G65*	PHF21B_ENST00000403565.1_De_novo_Start_OutOfFrame|PHF21B_ENST00000447824.3_Nonsense_Mutation_p.G53*|PHF21B_ENST00000404079.2_Nonsense_Mutation_p.G53*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.G65*	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	65							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ACTGCCGCTCCTTGCCCGGCC	0.627000													17	23					5.35267e-07	5.37686e-07	1	1	0
KIF12	113220	broad.mit.edu	37	9	116859673	116859673	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116859673A>G	ENST00000374118.3	-	4	377	c.140T>C	c.(139-141)gTt>gCt	p.V47A	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	180	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTTCCAGCGAACAGGGAGGGG	0.622000													29	42					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246378	56246378	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56246378C>T	ENST00000361673.3	-	4	1843	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	544							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGGGATTTCCCTTCATTCCC	0.537000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	155					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509415	53509415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53509415C>T	ENST00000301466.3	+	6	745	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	229					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GCCGGCCTCCCGTTGTGTCCT	0.706000													3	5					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1580560	1580560	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1580560C>T	ENST00000407249.3	-	7	566	c.567G>A	c.(565-567)aaG>aaA	p.K189K	CDK11B_ENST00000317673.7_Silent_p.K187K|CDK11B_ENST00000340677.5_Silent_p.K176K|CDK11B_ENST00000341832.6_Silent_p.K142K			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	186	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCGCTGCTCCTTCTGCTGCT	0.672000													9	20					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978020	45978020	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45978020G>A	ENST00000391620.1	-	1	623	c.579C>T	c.(577-579)tcC>tcT	p.S193S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	193	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGACACGCAGGAGGCCGGGC	0.721000													32	60					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42465714	42465714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42465714G>A	ENST00000379310.3	-	5	561	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	VWA8_ENST00000281496.6_Missense_Mutation_p.R165C	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTGGCTGCACGAACTGCACAC	0.393000													37	60					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46449886	46449886	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46449886C>T	ENST00000399036.3	+	2	668	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	ACKR5_ENST00000400882.2_Missense_Mutation_p.L106F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L118F|ACKR5_ENST00000400880.3_Missense_Mutation_p.L106F	NM_003965.4	NP_003956.2																					GTGTAAAATTCTCATTGGACT	0.433000													34	85					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612076	44612076	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44612076G>A	ENST00000273320.3	+	6	1903	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E492K|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CCATACTGGGGAGAAACCTTA	0.448000													56	125					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467162	44467162	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:44467162G>A	ENST00000372310.3	-	9	1265	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	SLC6A9_ENST00000357730.2_Missense_Mutation_p.A386V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.A302V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A256V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A302V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A367V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.A440V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	440						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGCCACGAAGGCCAGGCCAGG	0.607000													5	141					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984701	64984701	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:64984701G>A	ENST00000394156.3	-	12	2316	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CDH11_ENST00000566827.1_Silent_p.I495I|CDH11_ENST00000268603.4_Silent_p.I621I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	621					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.I621I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAGGATGGCGATCAGGGCGC	0.622000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			22	28					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193899	60193899	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:60193899C>T	ENST00000267484.5	-	3	1838	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	501					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGACGCCAGTCTCCTCCCGGA	0.726000													10	8					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684228	41684228	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41684228G>A	ENST00000400454.1	-	9	2319	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	614	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACAGGGGATGAAGACCCGCT	0.493000													12	40					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486303	30486303	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:30486303G>A	ENST00000375938.4	+	4	394	c.141G>A	c.(139-141)aaG>aaA	p.K47K	TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375934.4_Silent_p.K29K|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000535842.1_Silent_p.K47K|TTLL9_ENST00000375921.2_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	47	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCGGTTCAAGACCACCCTCA	0.532000													7	93					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32376410G>A	ENST00000298386.2	+	18	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_ENST00000380314.1_Silent_p.R687R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000													16	158					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078695	21078695	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21078695C>T	ENST00000261383.3	-	24	3426	c.3427G>A	c.(3427-3429)Gca>Aca	p.A1143T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1143T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1143	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTTCTCTGCCATCCGTGGC	0.468000													36	78					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404401	61404401	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61404401G>A	ENST00000496593.1	+	0	1005					NR_002775.2																						TCGCATCTGGGAGAATGTGGG	0.602000													30	45					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697984	17697984	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:17697984C>T	ENST00000353383.1	+	3	2191	c.1722C>T	c.(1720-1722)agC>agT	p.S574S	RAI1_ENST00000261641.6_Silent_p.S574S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	574						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTTCCAGAGCCTACACGGCA	0.627000													56	149					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71008538	71008538	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:71008538G>A	ENST00000318789.4	-	21	2419	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	FOXP1_ENST00000491238.1_Missense_Mutation_p.P634S|FOXP1_ENST00000468577.1_Missense_Mutation_p.P568S|FOXP1_ENST00000493089.1_Missense_Mutation_p.P631S|FOXP1_ENST00000484350.1_Missense_Mutation_p.P556S|FOXP1_ENST00000475937.1_Missense_Mutation_p.P632S|FOXP1_ENST00000498215.1_Missense_Mutation_p.P632S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	632					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACGTGTACAGGATGCCTGGAA	0.517000			T	PAX5	ALL								6	62					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863112	55863112	+	Missense_Mutation	SNP	C	C	T	rs111636907	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55863112C>T	ENST00000327335.4	-	1	810	c.811G>A	c.(811-813)Gga>Aga	p.G271R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACAGTTACTCCTTTGCTTAAA	0.383000													4	113					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85910627	85910627	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85910627C>T	ENST00000372134.3	+	8	1137	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	315					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						AAATATGATCCCATTAACTCG	0.358000													20	61					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897691	49897691	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49897691C>T	ENST00000477224.1	-	10	1333	c.854_splice	c.e10-1	p.W285_splice	CAMKV_ENST00000296471.7_Splice_Site_p.W257_splice|CAMKV_ENST00000463537.1_Splice_Site_p.W285_splice|CAMKV_ENST00000467248.1_Splice_Site_p.W210_splice|CAMKV_ENST00000466940.1_Splice_Site_p.W242_splice|CAMKV_ENST00000488336.1_Splice_Site_p.W285_splice			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	285	Protein kinase.			W -> S (in Ref. 1; BAC11248).		cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCCAGAAATCCTGGAAAGGG	0.507000													22	59					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18979625	18979625	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18979625C>T	ENST00000438934.1	+	0	2976				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA																							TGTGTCTCCCCCTTCAGCCCC	0.632000													6	11					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94289029	94289029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:94289029C>T	ENST00000515393.1	-	3	874	c.875G>A	c.(874-876)gGa>gAa	p.G292E	MCTP1_ENST00000505208.1_Missense_Mutation_p.G71E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G71E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G71E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	292	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G292E(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACTTCTTTTCCTCCGATTTT	0.373000													4	22					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34929558	34929558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34929558C>T	ENST00000356577.4	+	4	6732	c.6257C>T	c.(6256-6258)cCa>cTa	p.P2086L	SON_ENST00000290239.6_Missense_Mutation_p.P2086L|SON_ENST00000300278.4_Missense_Mutation_p.P2086L|SON_ENST00000381692.2_Missense_Mutation_p.P114L|SON_ENST00000381679.4_Missense_Mutation_p.P2086L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2086					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTGCACCTCCACCTACTATA	0.413000													21	64					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980720	16980720	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16980720C>T	ENST00000379803.1	+	14	2366	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F	SIN3B_ENST00000595541.1_Silent_p.F342F|SIN3B_ENST00000248054.5_Silent_p.F752F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	784					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTACTTCTTCCTGCGCCTGC	0.622000													26	52					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223023	44223023	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44223023C>T	ENST00000244314.5	+	2	512	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	105						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCACAGTTCCCTGACGTGAC	0.637000													34	56					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488252	70488252	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:70488252G>A	ENST00000260128.4	+	6	937	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	SULF1_ENST00000419716.3_Missense_Mutation_p.G74R|SULF1_ENST00000402687.4_Missense_Mutation_p.G74R|SULF1_ENST00000458141.2_Missense_Mutation_p.G74R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	74					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAACATGGGGGGGCCACCTT	0.502000													26	29					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872925	57872925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57872925G>A	ENST00000393797.2	-	5	670	c.478C>T	c.(478-480)Cct>Tct	p.P160S	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P89S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P89S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P89S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P168S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	89					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTCTGGGAAGGGATGGATTCC	0.562000													71	158					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13055055	13055055	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:13055055C>T	ENST00000399002.2	+	4	791	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	SPTLC3_ENST00000378194.4_Missense_Mutation_p.L173F	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	173					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTCCTTGGTCTTGCAGCCAA	0.458000													11	110					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921966	150921966	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150921966C>T	ENST00000271640.5	+	12	1735	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SETDB1_ENST00000368969.4_Silent_p.V515V|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGAAAATGTCTCTGGTGGGA	0.507000													15	217					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69921518	69921518	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:69921518G>A	ENST00000373675.3	+	8	1721	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MYPN_ENST00000358913.5_Intron|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Intron			Q86TC9	MYPN_HUMAN	myopalladin	0	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGTAAAGATGATTTCAACTT	0.279000													31	54					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285979	223285979	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:223285979G>A	ENST00000540964.1	-	4	856	c.395C>T	c.(394-396)tCt>tTt	p.S132F	TLR5_ENST00000342210.6_Missense_Mutation_p.S132F			O60602	TLR5_HUMAN	toll-like receptor 5	132					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.S132C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TACAGCATCAGAGAGACCACA	0.383000													44	102					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096302	32096302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32096302G>A	ENST00000373703.4	-	5	789	c.767C>T	c.(766-768)gCc>gTc	p.A256V	HCRTR1_ENST00000373705.1_Intron	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	256	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CTCCCGGAAGGCCTCTGTCAG	0.582000													23	48					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561550	232561550	+	Missense_Mutation	SNP	G	G	A	rs150962063		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:232561550G>A	ENST00000366630.1	-	17	4773	c.4415C>T	c.(4414-4416)tCg>tTg	p.S1472L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1472L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S546L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1472					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S1472L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCATAGAACGAAAACTAGGG	0.507000													17	39					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191457	185191457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:185191457G>A	ENST00000265026.3	+	11	2672	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	MAP3K13_ENST00000446828.1_Missense_Mutation_p.E573K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E636K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E636K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E780K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	780					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.E780K(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAGAAAATGAATTCAGCGG	0.537000													101	174					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879376	879376	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:879376G>A	ENST00000342066.3	+	14	1972	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	630						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCCCCGGAGCGAGAACTCGGC	0.677000													28	97					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996081	140996081	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:140996081C>T	ENST00000285879.4	+	4	3177	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S31F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	964	MAGE.						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)					TTTGGCATTTCCCTGAGAGAA	0.488000										HNSCC(15;0.026)			129	50					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968201	35968201	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35968201G>A	ENST00000274278.3	-	3	588	c.231C>T	c.(229-231)atC>atT	p.I77I	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.I43I|UGT3A1_ENST00000333811.4_Silent_p.I23I|UGT3A1_ENST00000503189.1_Silent_p.I77I	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	77						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAACCACCTGATAACTTGGT	0.308000													19	59					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510296	142510296	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142510296C>T	ENST00000417977.2	-	0	421																											AGATAGAAGCCAGAGTCACTG	0.572000													15	34					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154360682	154360682	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:154360682G>A	ENST00000434900.2	+	3	800	c.282G>A	c.(280-282)atG>atA	p.M94I	OPRM1_ENST00000414028.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000435918.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000452687.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000419506.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000524163.1_Start_Codon_SNP_p.M1I|OPRM1_ENST00000428397.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000229768.5_Start_Codon_SNP_p.M1I|OPRM1_ENST00000337049.4_Start_Codon_SNP_p.M1I|OPRM1_ENST00000330432.7_Start_Codon_SNP_p.M1I|OPRM1_ENST00000360422.4_Start_Codon_SNP_p.M1I|OPRM1_ENST00000520708.1_Intron	NM_001145279.2	NP_001138751.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	1					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCAGTACCATGGACAGCAGCG	0.647000											OREG0005730	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OPRM1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	6	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11622730	11622730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11622730G>A	ENST00000262442.3	+	27	5700	c.5632G>A	c.(5632-5634)Gag>Aag	p.E1878K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1878K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1878	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1878K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAGACCGAGACCACCAA	0.612000													31	68					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997342	40997342	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40997342C>T	ENST00000253799.3	+	1	726	c.699C>T	c.(697-699)ttC>ttT	p.F233F	AOC2_ENST00000452774.2_Silent_p.F233F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	233					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTGGTCTTTTCCTTCACCCCG	0.617000													61	94					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038995	11038995	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11038995C>T	ENST00000470054.1	-	0	1208									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATTTGCCTCCTTGGTATGAA	0.393000													42	691					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107021680	107021680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107021680C>T	ENST00000409886.3	-	23	5359	c.5272G>A	c.(5272-5274)Gaa>Aaa	p.E1758K		NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1758					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCATTTTATTCCTCACCTTTG	0.308000													9	53					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648289	38648289	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38648289C>T	ENST00000413689.1	-	9	1204	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	SCN5A_ENST00000443581.1_Silent_p.E337E|SCN5A_ENST00000451551.2_Silent_p.E337E|SCN5A_ENST00000414099.2_Silent_p.E337E|SCN5A_ENST00000423572.2_Silent_p.E337E|SCN5A_ENST00000450102.2_Silent_p.E337E|SCN5A_ENST00000449557.2_Silent_p.E337E|SCN5A_ENST00000333535.4_Silent_p.E337E|SCN5A_ENST00000455624.2_Silent_p.E337E|SCN5A_ENST00000425664.1_Silent_p.E337E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	337					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)	ACCGGTAGCCCTCCGGACATG	0.612000													11	105					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99922318	99922318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:99922318C>T	ENST00000373004.3	+	9	1437	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	337					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCTCTTGGATCAATTCTATGA	0.483000													42	14					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417312	150417312	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417312G>A	ENST00000307194.5	+	3	360	c.220G>A	c.(220-222)Gac>Aac	p.D74N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCAGGTGGGACAAGTGCCA	0.622000													46	124					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113461188	113461188	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:113461188C>T	ENST00000505019.1	-	27	6128	c.6003G>A	c.(6001-6003)aaG>aaA	p.K2001K	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAATGATCTCCTTTTCAGCTC	0.398000													4	12					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301600	11301600	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:11301600G>A	ENST00000397056.1	+	3	1068	c.877G>A	c.(877-879)Gat>Aat	p.D293N	HRH1_ENST00000431010.2_Missense_Mutation_p.D293N|HRH1_ENST00000438284.2_Missense_Mutation_p.D293N	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	293					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CAGCCAAGAGGATGATAGAGA	0.498000													39	74					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33147514	33147514	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33147514C>T	ENST00000341947.2	-	13	1655	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	COL11A2_ENST00000361917.1_Silent_p.A369A|COL11A2_ENST00000374714.1_Silent_p.A450A|COL11A2_ENST00000374712.1_Silent_p.A395A|COL11A2_ENST00000374713.1_Silent_p.A429A|COL11A2_ENST00000395197.1_Silent_p.A416A|COL11A2_ENST00000357486.1_Silent_p.A455A|COL11A2_ENST00000374708.4_Silent_p.A390A	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	476	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTGCAGGATCGCCTGGGCCT	0.657000													26	122					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617026	1617026	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1617026C>T	ENST00000381580.1	-	3	636	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	SIRPG_ENST00000381583.2_Missense_Mutation_p.G186R|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186R|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186R			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	186	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 cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	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						AGCTCATTCCCATTTTTGAAC	0.577000													40	109					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55253677	55253677	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55253677C>T	ENST00000342376.3	+	3	353	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.P108S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TACTCACTCCCCCTATCAGTT	0.527000													57	155					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60658707	60658707	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60658707G>A	ENST00000227524.4	-	16	1651	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	482					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GATGCCCGAAGGCCACCCCTG	0.537000													20	51					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220286272	220286272	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220286272G>A	ENST00000373960.3	+	6	1320	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	412	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGGAGGGAGAGGAGAGCCG	0.627000													9	94					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762936	81762936	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81762936C>T	ENST00000550584.2	-	11	1599	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R361K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R417K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R282K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R336K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R417K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R2K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	361										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCTAAATGTCTCATACGTTC	0.328000													9	31					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814219	45814219	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45814219C>T	ENST00000261867.4	-	2	648	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	112					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTCAACCTGGCTTTCACCTTT	0.463000													50	70					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480561	32480561	+	Missense_Mutation	SNP	G	G	A	rs143443198		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32480561G>A	ENST00000266088.4	+	8	1050	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R140Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	267					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CACATCTTCCGAGATCCCCTC	0.512000													30	70					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479547	10479547	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:10479547C>T	ENST00000538557.1	+	12	1488	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	PGD_ENST00000270776.8_Missense_Mutation_p.S428F|PGD_ENST00000541529.1_Missense_Mutation_p.S406F|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	428					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGCCCTCTCCTTCTATGAC	0.617000													10	174					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587379	37587379	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:37587379C>T	ENST00000378616.3	+	3	1202	c.999C>T	c.(997-999)ctC>ctT	p.L333L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	333					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TCCTCCTCCTCCTGTGGTATC	0.463000													53	22					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389216	48389216	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:48389216G>A	ENST00000224600.4	-	1	1775	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	554	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTGCATAAGGAAGGCGAACT	0.672000													25	80					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76892447	76892447	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76892447C>T	ENST00000409709.3	+	23	2988	c.2716C>T	c.(2716-2718)Cgt>Tgt	p.R906C	MYO7A_ENST00000409619.2_Missense_Mutation_p.R895C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R906C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R906C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	906					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGCTGGCTCGTGAGGACGC	0.652000													3	11					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839394	34839394	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:34839394G>A	ENST00000192788.5	+	19	4186	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.G1339S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1339										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AACATCTCCAGGCCCCATCCC	0.527000													88	97					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077901	19077901	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:19077901C>T	ENST00000329773.2	-	2	136	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	17					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TGGTCATTTCCATTCACTGTT	0.527000													13	262					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099336	46099336	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46099336C>T	ENST00000295452.4	-	2	302	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	45					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCGTTAAATCCTCATCATCTT	0.333000													9	171					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24134674	24134674	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:24134674C>T	ENST00000378491.4	+	3	420	c.119C>T	c.(118-120)tCa>tTa	p.S40L	NRSN1_ENST00000378478.1_Missense_Mutation_p.S40L|NRSN1_ENST00000378475.1_Missense_Mutation_p.S40L	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	40					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTACAGCCTCAATTTGGGAG	0.512000													31	69					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10023936	10023936	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10023936G>A	ENST00000378380.3	+	3	842	c.513G>A	c.(511-513)ttG>ttA	p.L171L	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.L171L|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TGACATTTTTGGAAAAAGGAG	0.343000													38	78					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436657	248436657	+	Missense_Mutation	SNP	C	C	T	rs146681556	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248436657C>T	ENST00000318021.2	-	1	481	c.460G>A	c.(460-462)Ggg>Agg	p.G154R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TGCAGGAGCCCGTCAGCTGCA	0.587000													17	195					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073089	74073089	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74073089C>T	ENST00000329003.3	+	2	831	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	247					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCTTCTGCCTCTGCTGGATGC	0.692000													31	78					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354841	77354841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:77354841C>T	ENST00000451710.3	-	33	5534	c.5297G>A	c.(5296-5298)gGg>gAg	p.G1766E	TRPM6_ENST00000376871.3_Missense_Mutation_p.G599E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1757E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G717E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1762E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1757E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1766E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1762	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCGCTCTCCCACGCTGAGA	0.498000													31	60					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683171	50683171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:50683171G>A	ENST00000008391.3	+	2	610	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	128							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTCCTGCCTGGACGAGCAGAG	0.602000													43	195					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515626	9515626	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:9515626G>A	ENST00000352665.5	+	8	924	c.854_splice	c.e8-1	p.K285_splice	WDR16_ENST00000396219.3_Splice_Site_p.K217_splice|WDR16_ENST00000299764.5_Splice_Site_p.K295_splice	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	285						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCCCTAAAGGAAGATTCAGT	0.413000													32	83					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156341	52156341	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52156341C>T	ENST00000354534.5	+	15	2603	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	SCN8A_ENST00000550891.1_Missense_Mutation_p.P809S|SCN8A_ENST00000545061.1_Missense_Mutation_p.P809S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	809					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCATGGATCCCTACTATTA	0.413000													76	161					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487203	36487203	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36487203G>A	ENST00000342292.4	-	11	2269	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	750						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCGGCGGCGGGAGGAGCCGGG	0.701000													10	18					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68174125	68174125	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68174125C>T	ENST00000294304.7	+	9	2041	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	645	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCCTGAGGCCTTCTTGGTCT	0.622000													33	44					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352336	70352336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70352336C>T	ENST00000305107.6	-	4	1127	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	UGT2B4_ENST00000512583.1_Missense_Mutation_p.D361N|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D225N|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	361					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAAGAAGATCATTCTGGGGT	0.338000													41	105					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117368300	117368300	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117368300G>A	ENST00000160373.3	-	17	3989	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1300										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGATCGCAGGGGGAGGGCGCC	0.517000													14	282					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35393718	35393718	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35393718C>T	ENST00000311565.4	+	9	1537	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	PPARD_ENST00000360694.3_Silent_p.F396F|PPARD_ENST00000540939.1_Silent_p.F293F|PPARD_ENST00000448077.2_Silent_p.F357F|PPARD_ENST00000418635.2_Silent_p.F298F	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	396	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGTACCTCTTCCCCAAGCTGC	0.607000													33	76					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20349230	20349230	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:20349230A>C	ENST00000310227.1	+	1	466	c.319A>C	c.(319-321)Agc>Cgc	p.S107R		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	107	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCGGCCCGTGAGCCGCGAGCA	0.746000													5	6					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2327618	2327618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2327618G>A	ENST00000301732.5	-	32	5663	c.4963C>T	c.(4963-4965)Cgt>Tgt	p.R1655C	ABCA3_ENST00000382381.3_Missense_Mutation_p.R1597C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1655					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGAGGTCACGGCCCGGCAGG	0.657000													11	34					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31128396	31128396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:31128396G>A	ENST00000597505.1	-	11	1698	c.1699C>T	c.(1699-1701)Ctt>Ttt	p.L567F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	227					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCAGCGAAAGTGGATTCTTA	0.428000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	48					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23714024	23714024	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23714024C>T	ENST00000256797.4	-	9	1167		c.e9-1		ERN2_ENST00000457008.2_Splice_Site	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2						apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGCGTCATTCTAGTGGGAGA	0.458000													25	60					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417853	57417853	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57417853C>T	ENST00000543257.1	-	6	944	c.377_splice	c.e6-1	p.G126_splice	C8B_ENST00000535057.1_Splice_Site_p.G116_splice|C8B_ENST00000371237.4_Splice_Site_p.G178_splice	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	178	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAAATTTATCCTGTGAGGAA	0.448000													60	116					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043822	20043822	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20043822G>A	ENST00000570682.1	-	2	597	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	99						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTTGTCGGGGACCTGAGGCA	0.473000													25	54					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534422	84534422	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84534422C>T	ENST00000527857.1	+	0	4444					NR_026851.1																						CAGAGCCTTTCCAGGGCTATC	0.498000													10	27					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073220	98073220	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98073220C>T	ENST00000354924.2	+	1	523	c.523C>T	c.(523-525)Cac>Tac	p.H175Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TAATAAAATTCACCACTTTTT	0.358000													39	127					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530546	245530546	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:245530546C>T	ENST00000407071.2	+	3	1316	c.876C>T	c.(874-876)ctC>ctT	p.L292L	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	292					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGTCAGCCTCCAGATGGCCA	0.607000													9	17					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753752	49753752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:49753752C>T	ENST00000304801.3	-	1	1301	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	383					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTCAGTGTTCCATTTGGCAC	0.507000													55	242					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101324402	101324402	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:101324402C>T	ENST00000344327.3	-	12	3047	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	TRPC6_ENST00000532133.1_Missense_Mutation_p.E797K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E759K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E820K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	875					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATCACTCTCCTTATCTATC	0.458000													5	90					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061126	119061126	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119061126G>A	ENST00000503566.2	-	6	515	c.516C>T	c.(514-516)gcC>gcT	p.A172A	CCDC153_ENST00000415318.1_Silent_p.A172A			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	172										lung(3)|stomach(1)	4						GCTGCTTGATGGCTCTCAGCT	0.577000													11	96					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421222	37421222	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:37421222G>A	ENST00000374660.1	+	4	496	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E133K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E133K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAAATTGTGGAATTTTTGCT	0.284000													26	79					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280680	152280680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152280680C>T	ENST00000368799.1	-	3	6717	c.6682G>A	c.(6682-6684)Gga>Aga	p.G2228R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2228	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGATTGTCCCTGGCCCACC	0.572000									Ichthyosis				144	456					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:32621451G>A	ENST00000338921.4	+	13	1995	c.1478G>A	c.(1477-1479)aGg>aAg	p.R493K	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.R435K|NRG1_ENST00000539990.1_Missense_Mutation_p.R328K|NRG1_ENST00000356819.4_Missense_Mutation_p.R490K|NRG1_ENST00000287842.3_Missense_Mutation_p.R482K|NRG1_ENST00000287845.5_Missense_Mutation_p.R456K|NRG1_ENST00000405005.2_Missense_Mutation_p.R485K|NRG1_ENST00000287840.5_Missense_Mutation_p.R485K			Q02297	NRG1_HUMAN	neuregulin 1	485					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACACCACCAAGGCTGCGGGAG	0.577000													43	82					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885470	88885470	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:88885470G>A	ENST00000319675.3	-	1	826	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	244										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCCAGAGCGACAGCCATTA	0.527000													70	118					0	0	1	0	0
MIR519D	574480	broad.mit.edu	37	19	54216624	54216624	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54216624G>A	ENST00000385246.1	+	0	24					NR_030202.1																						CCCTCCAAAGGGAAGCGCTTT	0.428000													8	221					0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100170748	100170748	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100170748C>T	ENST00000383693.3	+	3	1622	c.342C>T	c.(340-342)tcC>tcT	p.S114S	LNP1_ENST00000489752.1_Silent_p.S127S	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	114										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TTTCAGAGTCCTTTGAACGGC	0.413000													37	70					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3221940	3221940	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:3221940G>A	ENST00000355072.5	+	53	7419	c.7274G>A	c.(7273-7275)gGa>gAa	p.G2425E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2425					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCAAACCGGGAGGGGATTTT	0.498000													13	172					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66432741	66432741	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:66432741C>T	ENST00000383703.3	-	17	3107	c.2504G>A	c.(2503-2505)aGg>aAg	p.R835K	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.R858K			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	858						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACCCTCGGTCCTGACCACGGT	0.547000													75	126					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978163	61978163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61978163C>T	ENST00000370263.4	-	6	2032	c.1811G>A	c.(1810-1812)tGg>tAg	p.W604*	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	604					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGAACATCCAGAGGAAGAT	0.657000													25	72					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154397041	154397041	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:154397041C>T	ENST00000435029.4	+	1	3782	c.3622C>T	c.(3622-3624)Cca>Tca	p.P1208S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1208	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATAAGCCTCCAGGGAAGAA	0.507000													21	38					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57122113	57122113	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:57122113C>T	ENST00000439986.4	-	6	661	c.624G>A	c.(622-624)atG>atA	p.M208I	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	208					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCTGCTTCATCTGGTAGA	0.552000													33	55					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096932	168096932	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:168096932C>T	ENST00000519560.1	-	35	4611	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1405R|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1398R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1398	EGF-like 8.				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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout 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)			AAGTCCCCTCCATAGCCCTCG	0.542000													20	39					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901242	51901242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:51901242C>T	ENST00000268919.4	+	1	1004	c.848C>T	c.(847-849)aCc>aTc	p.T283I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	283	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TACCAGTTCACCGCCCAGCCA	0.572000													24	62					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249127	124249127	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124249127C>T	ENST00000368984.3	+	3	890	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	254	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCGCACTCATCAAAATTGACC	0.522000													16	42					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411609	126411609	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126411609G>A	ENST00000394329.3	+	17	13645	c.13632G>A	c.(13630-13632)aaG>aaA	p.K4544K	FAT4_ENST00000335110.5_Silent_p.K2785K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4544					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACCGAAGGAGAAGAAGA	0.517000													48	78					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053616	117053616	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:117053616C>T	ENST00000371876.1	-	3	2706	c.285G>A	c.(283-285)agG>agA	p.R95R	KLHL13_ENST00000371882.1_Silent_p.R95R|KLHL13_ENST00000371878.1_Silent_p.R95R|KLHL13_ENST00000540167.1_Silent_p.R130R|KLHL13_ENST00000545703.1_Silent_p.R104R|KLHL13_ENST00000541812.1_Silent_p.R130R|KLHL13_ENST00000539496.1_Silent_p.R149R|KLHL13_ENST00000469946.1_Silent_p.R95R|KLHL13_ENST00000262820.3_Silent_p.R146R			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	146	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAATAATTTTCCTTAGACCGA	0.353000													48	20					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119726801	119726801	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:119726801C>T	ENST00000327097.4	+	2	298	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	55					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTACCTGATCCTGCTCACCGC	0.602000													41	102					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367348	50367348	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:50367348G>A	ENST00000315520.5	+	1	729	c.392G>A	c.(391-393)gGg>gAg	p.G131E	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	131					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GAGACCCTTGGGATCAACGTG	0.667000													8	19					0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367395	8367395	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8367395G>A	ENST00000301458.5	-	5	865	c.801C>T	c.(799-801)gcC>gcT	p.A267A	CD320_ENST00000537716.2_Silent_p.A225A	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	267					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTCCTTCATGGCCACCAGTA	0.647000													45	79					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39565260	39565260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:39565260C>T	ENST00000307712.6	-	2	580	c.63G>A	c.(61-63)tgG>tgA	p.W21*	SEC23A_ENST00000548032.2_Nonsense_Mutation_p.W21*|SEC23A_ENST00000557280.1_Nonsense_Mutation_p.W21*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.W21*|SEC23A_ENST00000553970.1_Nonsense_Mutation_p.W21*|SEC23A_ENST00000536508.1_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	21					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GCCAAACATTCCAACTAAATC	0.393000													13	146					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414168	213414168	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:213414168C>T	ENST00000366960.3	+	11	1499	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P238L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P153L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P438L|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	450					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACTTCTAGTCCTCAGGACAGC	0.423000													96	142					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642037	210642037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:210642037G>A	ENST00000439458.1	+	4	434	c.354G>A	c.(352-354)tgG>tgA	p.W118*	UNC80_ENST00000272845.5_Nonsense_Mutation_p.W118*|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	118						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTCTACACTGGATGCTTCTGG	0.542000													34	99					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332667	22332667	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:22332667C>T	ENST00000558896.1	+	0	474																											AGGGGATTTCCTACAGCAGGG	0.443000													29	107					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458560	45458560	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:45458560G>A	ENST00000548424.1	+	0	448																											GGTCCAGAGGGACCATCAACA	0.473000													17	32					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11888623	11888623	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11888623A>C	ENST00000346436.6	+	12	1115	c.1063A>C	c.(1063-1065)Aac>Cac	p.N355H	CLCN6_ENST00000376496.3_Missense_Mutation_p.N355H|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Missense_Mutation_p.N333H	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	355					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAACTGTCTGAACAAGAGGCT	0.547000													125	232					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765528	113765528	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113765528C>T	ENST00000259211.6	+	4	795	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	128					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GCTGGTTCATCGCTGTCAGCT	0.512000													40	65					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499467	51499467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51499467C>T	ENST00000600767.1	-	7	1120	c.631G>A	c.(631-633)Gat>Aat	p.D211N	KLK8_ENST00000593490.1_Missense_Mutation_p.R25Q|KLK8_ENST00000391806.2_Missense_Mutation_p.D256N|KLK8_ENST00000347619.4_Missense_Mutation_p.D70N|KLK8_ENST00000291726.7_Missense_Mutation_p.D211N|KLK8_ENST00000320838.5_Missense_Mutation_p.R25Q|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	211	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CCTCCAGAATCGCCCTAGACA	0.557000													39	107					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346437	23346437	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23346437C>T	ENST00000359591.4	+	7	2534	c.1843C>T	c.(1843-1845)Cca>Tca	p.P615S	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	615	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAGGCACCCCCACTGCCCAT	0.672000													50	88					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829248	2829248	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrY:2829248C>T	ENST00000155093.3	+	3	516	c.195C>T	c.(193-195)atC>atT	p.I65I	ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Silent_p.I65I|ZFY_ENST00000449237.1_Silent_p.I39I	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CAGTTGTAATCCAAGATGTTG	0.378000													9	48					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65040965	65040965	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:65040965G>A	ENST00000226021.3	+	1	260	c.189G>A	c.(187-189)atG>atA	p.M63I		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	63					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GCATCCCCATGGACGACAGCA	0.662000													22	67					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21861657	21861657	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21861657C>T	ENST00000399982.2	-	31	6361	c.6297G>A	c.(6295-6297)gaG>gaA	p.E2099E	CHD8_ENST00000430710.3_Silent_p.E1820E|CHD8_ENST00000557364.1_Silent_p.E2099E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2099					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTTCTCATCCTCACTCTCAT	0.502000													5	5					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656977	49656977	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49656977C>T	ENST00000252825.4	-	1	1704	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	HRC_ENST00000595625.1_Silent_p.E506E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	506					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGGTGCCTTTCTCTCCCTGCT	0.537000													28	66					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882976	110882976	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:110882976C>T	ENST00000369784.3	+	1	1849	c.949C>T	c.(949-951)Cct>Tct	p.P317S	RBM15_ENST00000487146.2_Missense_Mutation_p.P317S|RBM15_ENST00000602849.1_Missense_Mutation_p.P317S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	317					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGCCTGCCCCCTCCACCTCC	0.612000			T	MKL1	acute megakaryocytic leukemia								14	156					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80051487	80051487	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80051487G>A	ENST00000306749.2	-	4	659	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	147	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGAAGTCGAAGAAGAAGGAGA	0.652000													34	121					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068933	193068933	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:193068933C>T	ENST00000342358.4	-	7	781	c.664G>A	c.(664-666)Ggt>Agt	p.G222S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	222					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCTATGTAACCTTGAGACAGC	0.418000													42	70					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631977	68631977	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:68631977C>T	ENST00000423218.2	-	11	1232	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G	ITGA11_ENST00000315757.7_Silent_p.G379G			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	379					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCAGCAGAACCCCATCCTGGC	0.597000													16	54					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077065	57077065	+	Silent	SNP	G	G	A	rs150142077	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57077065G>A	ENST00000532437.1	-	5	3431	c.3120C>T	c.(3118-3120)ctC>ctT	p.L1040L	TNKS1BP1_ENST00000358252.3_Silent_p.L1040L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1040	Acidic.|Gly-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)				CTCTCTGCCCGAGTGCCCCAT	0.652000													63	122					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44310938	44310938	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44310938G>A	ENST00000288390.2	+	1	453	c.106G>A	c.(106-108)Gac>Aac	p.D36N	SPATS1_ENST00000323108.8_Missense_Mutation_p.D36N			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	36										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAAAAAGGGACTCTGGCAT	0.567000													22	112					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345689	92345689	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:92345689G>A	ENST00000377067.3	+	3	946	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	192						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)				GGAATACTCAGAATGCATCCG	0.483000													38	50					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342558	65342558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:65342558C>T	ENST00000402939.2	-	23	3883	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1324					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCCTTGGGTCGGCATGCCCC	0.672000													6	118					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115349433	115349433	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115349433C>T	ENST00000369358.4	-	41	5348	c.5104G>A	c.(5104-5106)Gga>Aga	p.G1702R	NRAP_ENST00000359988.3_Missense_Mutation_p.G1694R|NRAP_ENST00000369360.3_Missense_Mutation_p.G1667R|NRAP_ENST00000360478.3_Missense_Mutation_p.G1659R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1694						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACGTAAGCTCCCTGGAGACCC	0.552000													10	144					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956534	42956534	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42956534G>A	ENST00000541208.1	+	5	1338	c.969G>A	c.(967-969)caG>caA	p.Q323Q	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Silent_p.Q349Q|ZNF662_ENST00000440367.2_Silent_p.Q323Q|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCGACATCAGAGAATGCACA	0.502000													20	62					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124905	106124905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:106124905G>A	ENST00000375936.3	+	3	198	c.152G>A	c.(151-153)gGa>gAa	p.G51E	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	51						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACAGAAGAAGGAAGAGAGACG	0.388000													6	38					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151160785	151160785	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:151160785C>T	ENST00000282466.3	-	5	5949	c.5950G>A	c.(5950-5952)Gac>Aac	p.D1984N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1984	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCTGCTGGTCGACCACAGCC	0.443000													38	73					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753370	145753370	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145753370G>A	ENST00000313465.5	-	2	418	c.243C>T	c.(241-243)tcC>tcT	p.S81S	C8orf82_ENST00000524821.1_Intron	NM_001001795.1	NP_001001795.1	Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	0										endometrium(1)|urinary_tract(1)	2						TGCCCGGAAGGGAGAAAGAAG	0.602000													29	72					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465388	23465388	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23465388C>T	ENST00000248996.4	+	3	1504	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	280						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAGAAGATCCGCCGCATCCC	0.552000													39	64					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615187	615187	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:615187C>T	ENST00000409413.3	+	3	1875	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	532										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCTCCCCCTCGCAGCCCCAG	0.682000													19	40					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93199064	93199064	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:93199064G>A	ENST00000393218.2	-	3	405	c.68C>T	c.(67-69)cCt>cTt	p.P23L	LGMN_ENST00000557434.1_Missense_Mutation_p.P23L|LGMN_ENST00000334869.4_Missense_Mutation_p.P23L|LGMN_ENST00000555699.1_Missense_Mutation_p.P23L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	23					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCATCTTCAGGATCATCTAT	0.453000													8	192					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14308120	14308120	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:14308120G>A	ENST00000378053.3	-	2	289	c.33C>T	c.(31-33)atC>atT	p.I11I	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I11I|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	11					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTTTAGTCCCGATGAGGAAGA	0.463000													4	69					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836201	22836201	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22836201G>A	ENST00000456783.2	+	0	244					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATAGGAATGTGATGTTAGAGA	0.388000													47	135					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113951213	113951213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113951213G>A	ENST00000245796.6	+	9	2272	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	PSD4_ENST00000441564.2_Missense_Mutation_p.D665N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	693	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTTAACACGGACCTGCATGG	0.542000													5	97					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56106166	56106166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:56106166C>T	ENST00000373965.2	-	6	947	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PCDH15_ENST00000395446.1_Missense_Mutation_p.G185R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G163R|PCDH15_ENST00000373957.3_Missense_Mutation_p.G163R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395442.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G185R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G185R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.G185R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G185R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G185R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G190R|PCDH15_ENST00000320301.6_Missense_Mutation_p.G185R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	185	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTATCTGTCCATTTGGTCCA	0.318000										HNSCC(58;0.16)			47	67					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25803934	25803934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25803934G>A	ENST00000399878.3	-	11	2049	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.L608F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.L490F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	643						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCTGGTCAAGGGGTGTCTTG	0.483000													18	25					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286627	240286627	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240286627G>A	ENST00000319653.9	+	2	1994	c.1764G>A	c.(1762-1764)acG>acA	p.T588T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	588					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGCCCAGACGAATGCAGCTT	0.478000													55	84					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111793181	111793181	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111793181G>A	ENST00000452346.2	+	14	1708	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D443N			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	569	LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.D298Y(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTGTGGCAATGATATTTGCTT	0.373000													43	95					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701532	48701532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:48701532G>A	ENST00000236495.5	+	11	1398	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	SLC5A9_ENST00000533824.1_Missense_Mutation_p.E446K|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.E425K	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	425						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AACAGAGCAGGAGCTGATGGT	0.622000													38	80					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45972751	45972751	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:45972751C>T	ENST00000296137.2	-	16	4268	c.4063G>A	c.(4063-4065)Gat>Aat	p.D1355N	FYCO1_ENST00000535325.1_Missense_Mutation_p.D1375N|FYCO1_ENST00000438446.1_Missense_Mutation_p.D26N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1355	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCGATCTCATCCACTGTGAGG	0.542000													5	107					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31566417	31566417	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:31566417G>A	ENST00000389082.5	-	13	2898	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DENND5B_ENST00000536562.1_Silent_p.L913L|DENND5B_ENST00000306833.6_Silent_p.L913L	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	878	RUN 1.					integral to membrane		p.L878L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTGGGACAAGAGCTTCTTTT	0.403000													31	48					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753459	160753459	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:160753459C>T	ENST00000274547.2	-	10	1324	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Silent_p.G369G|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	369					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	gatattgggtcccattttgtt	0.388000													34	52					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120957569	120957569	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120957569G>A	ENST00000422003.2	+	8	1227	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	TBCEL_ENST00000529397.1_Missense_Mutation_p.E347K	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	347	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGCAAAAGTAGAAGTCCACTT	0.413000													21	15					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57006908	57006908	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57006908G>A	ENST00000179765.5	-	6	1135	c.936C>T	c.(934-936)tcC>tcT	p.S312S	BAZ2A_ENST00000379441.3_Silent_p.S314S|BAZ2A_ENST00000549884.1_Silent_p.S342S|BAZ2A_ENST00000551812.1_Silent_p.S344S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	344					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATTATTGAGGGAAGGGCAAT	0.517000													4	150					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273252	125273252	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125273252C>T	ENST00000335302.5	+	1	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTTCACACCCCCATGTACTT	0.527000													40	195					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780724	37780724	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37780724C>T	ENST00000447769.1	+	4	1018	c.729C>T	c.(727-729)ttC>ttT	p.F243F	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.F243F|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	243						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTACCAGTTCTTTAGGATCT	0.408000													73	101					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33779935	33779935	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:33779935C>T	ENST00000261326.5	+	4	610	c.589C>T	c.(589-591)Ctc>Ttc	p.L197F		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	197					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCTGCCGCATCTCTTCTGCTA	0.567000													36	60					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647305	150647305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150647305G>A	ENST00000392968.2	-	7	3181	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S	KCNH2_ENST00000430723.3_Silent_p.S783S|KCNH2_ENST00000262186.5_Silent_p.S783S|KCNH2_ENST00000330883.4_Silent_p.S443S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	783					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGGAGCCCCGGGAGATGAAGT	0.652000													8	189					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24030579	24030579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24030579G>A	ENST00000308724.5	-	18	2674	c.1919C>T	c.(1918-1920)cCt>cTt	p.P640L	AP1G2_ENST00000397120.3_Missense_Mutation_p.P640L|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	640					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAGATGGGGAGGATGCTGGAC	0.602000													5	93					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285640	152285640	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152285640C>T	ENST00000368799.1	-	3	1757	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	574	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E574D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTTCCTCATTTCGTG	0.552000									Ichthyosis				365	472					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907277	164907277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:164907277G>A	ENST00000475390.1	-	2	1785	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Q448*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	448						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCCCCATCTTGGACATAGGAA	0.428000										HNSCC(40;0.11)			22	45					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107523	133107523	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:133107523G>A	ENST00000368642.4	-	2	467	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	128										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GTGGAAGAGGGGGGCAGTCCT	0.527000													23	56					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085424	35085424	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35085424G>T	ENST00000601241.1	-	2	2145	c.45C>A	c.(43-45)atC>atA	p.I15I	SCGB2B2_ENST00000379204.2_Silent_p.I15I|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	15						extracellular region	binding										GGACGCTGCAGATCAGAGCCA	0.602000													21	73					1.96292e-10	1.97483e-10	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431720	135431720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135431720C>T	ENST00000394143.1	+	6	6146	c.5855C>T	c.(5854-5856)tCt>tTt	p.S1952F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1747F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1889F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1747F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1952F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1952					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATGGGCTTTCTGAGAACCCT	0.413000													65	39					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047127	9047127	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9047127C>T	ENST00000397910.4	-	5	34707	c.34504G>A	c.(34504-34506)Gtt>Att	p.V11502I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11504	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						GTCCTGGGAACCATTGTGTTG	0.507000													38	113					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761675	13761675	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13761675C>T	ENST00000279593.3	-	9	2081	c.1872G>A	c.(1870-1872)aaG>aaA	p.K624K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	624					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K624K(1)|p.G625R(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)	AGGTGGTCCCCTTTGGGTTCT	0.532000													29	59					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013247	99013247	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:99013247C>T	ENST00000393504.1	+	8	2031	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	CNGA3_ENST00000409937.1_Silent_p.F542F|CNGA3_ENST00000436404.2_Silent_p.F520F|CNGA3_ENST00000272602.2_Silent_p.F538F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	538					signal transduction|visual perception	integral to membrane	cGMP binding	p.F538L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCACCCAGTTCGTGGTCCTCA	0.557000													77	152					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151771905	151771905	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:151771905G>A	ENST00000255262.3	-	4	1260	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	365					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATTCTGTCAGGAAGATGTTCC	0.537000													56	116					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100333011	100333011	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:100333011C>T	ENST00000341853.1	-	0	1180					NR_003260.1																						TCCTTCTCTCCAAAGATCTTT	0.587000													4	85					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832216	113832216	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113832216C>T	ENST00000337569.3	+	3	110	c.35C>T	c.(34-36)tCc>tTc	p.S12F	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	12						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						ATGTCCAGTTCCTTCCTGCCT	0.577000													85	159					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045830	9045830	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9045830A>C	ENST00000397910.4	-	5	36004	c.35801T>G	c.(35800-35802)tTt>tGt	p.F11934C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11936	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						AGTCCTGGAAAATTCTGGGGG	0.488000													9	142					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2349459	2349459	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2349459G>A	ENST00000301732.5	-	14	2386	c.1686C>T	c.(1684-1686)acC>acT	p.T562T	ABCA3_ENST00000382381.3_Silent_p.T504T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	562	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCAGCAGGACGGTGATCTGTC	0.652000													94	150					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274534	74274534	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74274534C>T	ENST00000409262.3	+	1	1085	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	362							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACCCTCTTCCTCCCCGGCC	0.652000													10	27					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41047850	41047850	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41047850G>A	ENST00000399564.4	-	17	2151	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	MROH2B_ENST00000506092.2_Silent_p.T122T	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCCATAGAACGGTACTGATGT	0.383000													6	9					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022269	120022269	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:120022269C>T	ENST00000379551.2	+	3	1068	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PRR16_ENST00000446965.1_Silent_p.F190F|PRR16_ENST00000407149.2_Silent_p.F260F|PRR16_ENST00000505123.1_Silent_p.F190F	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	260	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCCTCCTTTCCCACTAGAAA	0.547000													23	56					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134743238	134743238	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134743238G>A	ENST00000368586.5	-	9	1037	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	TTC40_ENST00000368585.3_Missense_Mutation_p.L313F|TTC40_ENST00000368582.2_Missense_Mutation_p.L313F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGGTCTGAGAGGCAGGCAGAG	0.502000													44	76					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566931	4566931	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4566931C>T	ENST00000360213.1	+	1	511	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	171					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)		GCGGCTGCCCCTTTATAAAAC	0.527000													48	65					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925315	27925315	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27925315C>T	ENST00000244623.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTGTAGCCCAGCTTTTCA	0.438000													74	87					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793669	124793669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124793669G>A	ENST00000298251.4	-	3	1070	c.665C>T	c.(664-666)cCc>cTc	p.P222L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	222	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGGCTGATGGGGTTCTCCAC	0.572000													22	24					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625161	56625161	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56625161G>A	ENST00000266980.4	+	2	396	c.103G>A	c.(103-105)Gag>Aag	p.E35K	SLC39A5_ENST00000454355.2_Missense_Mutation_p.E35K	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	35					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGAGCAGGAGCAGAACCA	0.652000													30	208					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061220	11061220	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11061220G>A	ENST00000390677.2	-	1	941	c.678C>T	c.(676-678)gtC>gtT	p.V226V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	226					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CATTTGTATGGACCTTGGTCC	0.388000													35	90					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211276	78211276	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78211276T>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CTCCTCCTTTTGCAGCCTCTC	0.572000													7	440					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6246833	6246833	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:6246833G>A	ENST00000234875.4	-	4	324	c.286C>T	c.(286-288)Cta>Tta	p.L96L	RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Silent_p.L63L	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	96					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAGTCACGTAGATTATTCTTC	0.398000			T	RUNX1	"""AML, CML"""								25	32					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284469	47284469	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47284469C>T	ENST00000271153.4	+	12	1555	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	CYP4B1_ENST00000371919.4_Missense_Mutation_p.P493S|CYP4B1_ENST00000452782.2_Missense_Mutation_p.P345S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P508S			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	507					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCCACTGGGCCCTGGGTCTGG	0.612000													45	86					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431546	117431546	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117431546G>C	ENST00000160373.3	-	4	1795	c.1704C>G	c.(1702-1704)gaC>gaG	p.D568E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	568										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCCTGCTGCTGTCTATAATAA	0.512000													42	134					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385013	108385013	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:108385013C>T	ENST00000265843.4	-	6	1331	c.1221G>A	c.(1219-1221)agG>agA	p.R407R	EXPH5_ENST00000525344.1_Silent_p.R400R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R331R|EXPH5_ENST00000443411.1_Silent_p.R219R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	407					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTGAAAACCCCTGGGATACA	0.448000													72	93					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585080	7585080	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:7585080G>A	ENST00000379802.3	+	24	7926	c.7585G>A	c.(7585-7587)Gat>Aat	p.D2529N	DSP_ENST00000418664.2_Missense_Mutation_p.D1930N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2529	Globular 2.				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)		CAGTCAGTATGATATTCAAGA	0.478000													47	120					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150061773	150061773	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:150061773G>A	ENST00000409642.3	+	4	485	c.84G>A	c.(82-84)aaG>aaA	p.K28K	LYPD6B_ENST00000409029.1_Silent_p.K4K|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.K28K|LYPD6B_ENST00000409876.1_Silent_p.K4K	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	4						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ATAGATATAAGAGTTCGGACC	0.438000													45	98					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086095	92086095	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92086095C>T	ENST00000298047.6	+	1	834	c.817C>T	c.(817-819)Cct>Tct	p.P273S	FAT3_ENST00000409404.2_Missense_Mutation_p.P273S|FAT3_ENST00000525166.1_Missense_Mutation_p.P123S|FAT3_ENST00000541502.1_Missense_Mutation_p.P273S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	273	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTCATGTTCCTTTCTCGTT	0.438000										TCGA Ovarian(4;0.039)			56	103					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11204735	11204735	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11204735G>A	ENST00000361445.4	-	34	4918	c.4842C>T	c.(4840-4842)atC>atT	p.I1614I	MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'UTR|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1614	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCTGGCGGATGATCTCTCGTC	0.577000													21	58					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716366	39716366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:39716366G>A	ENST00000553728.1	+	4	801	c.588G>A	c.(586-588)tgG>tgA	p.W196*	MIA2_ENST00000556784.1_Nonsense_Mutation_p.W195*|MIA2_ENST00000280082.3_Nonsense_Mutation_p.W196*																							CAAAAGACTGGGAAGAAGTAG	0.418000													38	99					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128345651	128345651	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:128345651C>T	ENST00000296255.3	-	6	1109	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	RPN1_ENST00000497289.1_Missense_Mutation_p.R182K|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	354					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GTCCACAAACCTCATCTTCAG	0.458000			T	EVI1	AML								28	72					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236733	42236733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42236733G>A	ENST00000541110.1	-	5	1164	c.596C>T	c.(595-597)tCc>tTc	p.S199F	TRERF1_ENST00000340840.2_Missense_Mutation_p.S199F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S199F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S199F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S199F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	199					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGTAGCGGGAAGGGATAGC	0.637000													45	120					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241724457	241724457	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:241724457G>A	ENST00000498729.2	-	7	915	c.669C>T	c.(667-669)atC>atT	p.I223I	KIF1A_ENST00000320389.7_Silent_p.I223I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	223	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGAAGATGATGTTGAAGA	0.607000													7	278					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321537	40321537	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40321537G>A	ENST00000264661.3	-	9	1880	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	KCNH4_ENST00000607371.1_Silent_p.F516F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	516					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTGGTCTGGAAGTATTCGA	0.657000													10	109					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165637	124165637	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124165637G>A	ENST00000360013.3	+	21	3578	c.3451G>A	c.(3451-3453)Gaa>Aaa	p.E1151K	KALRN_ENST00000460856.1_Missense_Mutation_p.E1142K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1151K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1151					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAAACAGGTGAATTTTACCT	0.483000													65	137					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904656	12904656	+	Silent	SNP	C	C	T	rs140793578	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:12904656C>T	ENST00000380659.3	+	3	1168	c.1029C>T	c.(1027-1029)atC>atT	p.I343I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	343					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCAGCCTCATCCAATTGGATC	0.398000													4	101					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949006	37949006	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37949006C>T	ENST00000346872.3	-	4	405	c.344G>A	c.(343-345)aGt>aAt	p.S115N	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.S115N|IKZF3_ENST00000351680.3_Missense_Mutation_p.S115N|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.S115N|IKZF3_ENST00000439016.2_Missense_Mutation_p.S115N|IKZF3_ENST00000535189.1_Missense_Mutation_p.S81N|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.S81N|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.S115N|IKZF3_ENST00000350532.3_Missense_Mutation_p.S115N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	115					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATCTTTCCACTGGTTGGCCT	0.393000													38	79					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338960	54338960	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54338960A>G	ENST00000243056.3	+	2	1069	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	305						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCGCCAGGTAACCATCTGGTT	0.582000			T	NUP98	AML								15	117					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46891968	46891968	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46891968C>T	ENST00000012443.4	+	11	1438	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V	PPP5C_ENST00000391919.1_Silent_p.V317V	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	445	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTGTCACCGTCTTCTCTGCCC	0.532000													53	105					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234078699	234078699	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234078699C>T	ENST00000359570.5	+	17	1644	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	INPP5D_ENST00000455936.2_Silent_p.L312L|INPP5D_ENST00000450745.1_Silent_p.L312L|INPP5D_ENST00000538935.1_Silent_p.L547L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	560					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAACATTCTCCGGTTCCTGG	0.532000													56	124					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964963	42964963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:42964963C>T	ENST00000399770.2	+	2	439	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	147	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CACCTGCCTTCGTGTGGTCCG	0.388000													73	146					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141175	143141175	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143141175C>T	ENST00000332690.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	210					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGTCTTTTTCATTTGCATGA	0.453000													107	242					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763353	31763353	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31763353C>T	ENST00000253362.2	+	5	697	c.551C>T	c.(550-552)tCc>tTc	p.S184F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S184F			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	184						extracellular region	lipid binding										ATCTCACTTTCCTTGCTGGAC	0.532000													52	143					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833552	176833552	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176833552C>T	ENST00000367654.2	-	23	3790	c.3777G>A	c.(3775-3777)ctG>ctA	p.L1259L	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.L1251L			O14525	ASTN1_HUMAN	astrotactin 1	1259					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						AGCGGCACCCCAGGTACTTGA	0.587000													62	104					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061694	189061694	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:189061694G>A	ENST00000332517.3	+	2	561	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	141					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACTCCAGGAAATCCTGAA	0.493000													27	56					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142434007	142434007	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:142434007C>T	ENST00000378004.3	+	15	1644	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P430L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	430	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTAGACCCCAAGACTGCT	0.383000													66	258					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503860	51503860	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51503860T>C	ENST00000391806.2	-	3	265	c.185A>G	c.(184-186)aAc>aGc	p.N62S	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGAGAGGGTTGGATCGCCA	0.622000													40	77					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46821785	46821785	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46821785C>T	ENST00000283296.7	-	21	4273	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K	GPR116_ENST00000456426.2_Missense_Mutation_p.E1187K|GPR116_ENST00000362015.4_Missense_Mutation_p.E1309K|GPR116_ENST00000265417.7_Missense_Mutation_p.E1329K|GPR116_ENST00000545669.1_3'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1329					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGGTTGCTTCTGGGGTGGAA	0.498000													6	158					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55529209	55529209	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55529209C>T	ENST00000302118.5	+	12	2321	c.2031C>T	c.(2029-2031)atC>atT	p.I677I	PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	677					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCGTTGCCATCTGCTGCCGGA	0.677000													30	39					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229954	20229954	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20229954C>T	ENST00000418063.2	+	4	1703	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	531						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAAGATAATTCATACTGGAGC	0.413000													16	35					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379522	48379522	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48379522G>A	ENST00000380518.3	-	25	1833	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P488S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	557	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGGGCTCCAGGAAGGCCAGGT	0.652000													12	23					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70011663	70011663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:70011663G>A	ENST00000355303.5	+	20	2343	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	ANO1_ENST00000538023.1_Missense_Mutation_p.E680K|ANO1_ENST00000398543.2_Missense_Mutation_p.E534K|ANO1_ENST00000531349.1_Missense_Mutation_p.E389K|ANO1_ENST00000530676.1_Missense_Mutation_p.E534K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	680					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAACCTGTTCGAGATCGGCAT	0.642000													11	21					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318877	6318877	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:6318877G>A	ENST00000264870.3	-	2	286	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	7					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T7T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTCCAAAGGCGGTCCTGGAAG	0.468000													76	255					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33145218	33145218	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33145218G>A	ENST00000341947.2	-	23	2169	c.1942C>T	c.(1942-1944)Cct>Tct	p.P648S	COL11A2_ENST00000361917.1_Missense_Mutation_p.P541S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P622S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.P567S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P601S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P588S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P627S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P562S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	648	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTTGTCCAGGAGGTCCTGGC	0.577000													27	57					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593000	101593000	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:101593000G>A	ENST00000310954.6	-	8	1574	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	430					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAGCTCCAGGAATTAAAACA	0.363000													17	52					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126925	104126925	+	Missense_Mutation	SNP	G	G	A	rs79381679	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:104126925G>A	ENST00000388887.2	+	51	5629	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1809	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAAGCTGAAGGAGTATTTGAA	0.473000													6	168					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003771	119003771	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:119003771G>A	ENST00000298472.5	+	3	554	c.411G>A	c.(409-411)tcG>tcA	p.S137S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	137					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGTTTGCCTCGAAAGCCACCG	0.488000													14	51					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137056200	137056200	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137056200G>A	ENST00000309755.4	-	2	531	c.88C>T	c.(88-90)Cct>Tct	p.P30S	KLHL3_ENST00000508657.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	30						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATGTGGGCAGGGTTGACAGTG	0.507000													40	82					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506412	125506412	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:125506412C>T	ENST00000241305.3	-	14	2293	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	713					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R713S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGAAGTCACACCTTGTGGCCC	0.552000													11	256					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510674	38510674	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38510674C>T	ENST00000263409.4	-	7	1045	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	LIFR_ENST00000453190.2_Missense_Mutation_p.E295K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	295					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAACATTTTCCCCATCAAGA	0.363000			T	PLAG1	salivary adenoma								31	125					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095044	143095044	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143095044G>A	ENST00000275815.3	-	8	1670	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	528	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CATGATCAGGGGAGAAAGGGC	0.567000													44	98					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246580	65246580	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:65246580C>T	ENST00000389722.3	-	20	4389	c.4336G>A	c.(4336-4338)Gga>Aga	p.G1446R	SPTB_ENST00000556626.1_Missense_Mutation_p.G1446R|SPTB_ENST00000389720.3_Missense_Mutation_p.G1446R|SPTB_ENST00000389721.5_Missense_Mutation_p.G1446R|SPTB_ENST00000542895.1_Missense_Mutation_p.G1446R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1446					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCTCCTCTCCCATTGAAGGC	0.577000													93	190					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134151181	134151181	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:134151181C>A	ENST00000392638.2	+	3	518	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	LRRC27_ENST00000368612.1_Missense_Mutation_p.S46Y|LRRC27_ENST00000368613.4_Missense_Mutation_p.S108Y|LRRC27_ENST00000344079.5_Missense_Mutation_p.S108Y|LRRC27_ENST00000368610.3_Missense_Mutation_p.S46Y|LRRC27_ENST00000356571.4_Missense_Mutation_p.S108Y|LRRC27_ENST00000368615.3_Missense_Mutation_p.S108Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.S108Y			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	108										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCGCTTCCTTCTGGGATTGGA	0.438000													45	72					1.22102e-19	1.23316e-19	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99661616	99661616	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:99661616G>A	ENST00000373034.4	-	1	3655	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	PCDH19_ENST00000255531.7_Silent_p.I660I|PCDH19_ENST00000420881.2_Silent_p.I660I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	660	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGACAAGTAGATTAGGACGA	0.547000													24	6					0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113651039	113651039	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:113651039T>C	ENST00000453129.2	+	1	571	c.522T>C	c.(520-522)atT>atC	p.I174I		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	174						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTGCTGGTATTTTCCTGGCTC	0.552000													7	37					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813822	248813822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248813822G>A	ENST00000344889.3	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTACGTAGCGATCATAGGAC	0.547000													40	68					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50325899	50325899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50325899G>A	ENST00000436390.1	-	14	1686	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	IFRD2_ENST00000336089.4_Missense_Mutation_p.P563S|IFRD2_ENST00000429673.2_Missense_Mutation_p.P461S|IFRD2_ENST00000417626.2_Missense_Mutation_p.P397S			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	461							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AACAGCACAGGGCCCAGGCCA	0.582000													16	34					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269780	1269780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1269780G>A	ENST00000447027.1	+	31	11737	c.11679G>A	c.(11677-11679)tgG>tgA	p.W3893*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W3890*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3890	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.W3845C(1)|p.W3890C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGTGTGGATCAGCACAA	0.647000													40	47					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272658	48272658	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:48272658G>A	ENST00000225964.5	-	19	1352	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	412	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGGCACCAGGGAAGCCAGGA	0.677000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						20	48					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166963285	166963285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:166963285C>T	ENST00000367872.4	+	5	746	c.502C>T	c.(502-504)Cga>Tga	p.R168*	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Nonsense_Mutation_p.R137*	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	168					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACGAGGATTTCGATTTCATTG	0.338000													19	43					0	0	1	0	0
ASCL4	121549	broad.mit.edu	37	12	108169016	108169016	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:108169016G>A	ENST00000342331.4	+	1	855	c.24G>A	c.(22-24)gcG>gcA	p.A8A		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	7					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GTAAACCGGCGGAACGGCTGG	0.607000													57	114					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343213	130343213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:130343213C>T	ENST00000299164.2	+	8	2350	c.2350C>T	c.(2350-2352)Ctc>Ttc	p.L784F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	784	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CGTGGAGGTCCTCTCCGTGGG	0.672000													64	59					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806797	34806797	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:34806797G>A	ENST00000338074.2	+	18	2429		c.e18-1		EPB41L1_ENST00000373950.2_Splice_Site|EPB41L1_ENST00000373946.3_Splice_Site|EPB41L1_ENST00000373941.1_Splice_Site|EPB41L1_ENST00000202028.5_Splice_Site|EPB41L1_ENST00000441639.1_Splice_Site	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1						cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGTTTCCCCAGGAGAACAGTC	0.602000													22	34					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265691	3265691	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3265691G>A	ENST00000602557.1	-	15	2359	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P602S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P601S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P602S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P601S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P601S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P602S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	602	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATTCCTCTGGATAATTTGGT	0.373000													9	25					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70384117	70384117	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:70384117C>T	ENST00000374051.3	+	5	1114	c.792C>T	c.(790-792)gtC>gtT	p.V264V	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.V284V|NLGN3_ENST00000536169.1_Silent_p.V244V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	284					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.V264V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGATCACTGTCTTTGGCTCGG	0.582000													13	61					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90328652	90328652	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90328652C>T	ENST00000300060.6	-	21	3145	c.2832G>A	c.(2830-2832)acG>acA	p.T944T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	944	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGTTGGCTTTCGTCTTCTCCA	0.552000													72	166					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080294	115080294	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:115080294C>T	ENST00000537058.1	-	8	1098	c.1078_splice	c.e8+1	p.D360_splice	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Splice_Site_p.D360_splice|CADM1_ENST00000331581.6_Splice_Site_p.D360_splice			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	359					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GATACCATACCTgtgatgatg	0.418000													48	39					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599316	29599316	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29599316G>A	ENST00000431530.3	+	1	569	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	161						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTCCCAAGGATAAACTGGC	0.517000													33	79					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22846693	22846693	+	Silent	SNP	C	C	T	rs138480920		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:22846693C>T	ENST00000404138.1	+	15	3484	c.2973C>T	c.(2971-2973)tcC>tcT	p.S991S	ZBTB40_ENST00000374651.4_Silent_p.S879S|ZBTB40_ENST00000375647.4_Silent_p.S991S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGCCCCGTCCATGCTGGAGC	0.607000													53	86					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793148	46793148	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46793148C>T	ENST00000230588.4	+	8	705	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	232	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCCAAGATCCCTGAGTTTA	0.433000													27	80					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095494	130095494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130095494G>A	ENST00000265379.6	+	3	976	c.482G>A	c.(481-483)gGg>gAg	p.G161E	COL6A5_ENST00000432398.2_Missense_Mutation_p.G161E			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	161	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGAAAGACGGGGTGAAAATT	0.512000													10	18					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9288543	9288543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9288543G>A	ENST00000378501.2	+	1	97	c.82G>A	c.(82-84)Gag>Aag	p.E28K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E28K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E28K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E28K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E28K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E28K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	28					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATACGAGGAGGTAAAGAA	0.303000													12	32					0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86574498	86574498	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:86574498G>A	ENST00000379010.2	-	1	1228	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	410	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						GACCCTACAGGAGGAGTCGCC	0.677000													6	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438680	179438680	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179438680G>T	ENST00000589042.1	-	326	72403	c.72179C>A	c.(72178-72180)aCa>aAa	p.T24060K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15120K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22419K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21492K|TTN_ENST00000460472.2_Missense_Mutation_p.T14995K|TTN_ENST00000342175.6_Missense_Mutation_p.T15187K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22419	Fibronectin type-III 75.						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)			CCATTCCATTGTTGGAGGTGG	0.393000													5	68					0.184627	0.18469	1	1	0
KANK4	163782	broad.mit.edu	37	1	62732417	62732417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:62732417G>A	ENST00000371153.4	-	6	2684	c.2306C>T	c.(2305-2307)aCa>aTa	p.T769I	KANK4_ENST00000354381.3_Missense_Mutation_p.T141I|KANK4_ENST00000371150.1_Missense_Mutation_p.T125I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	769										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGCTGGTCTGTGGTGGTCCC	0.423000													26	102					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938750	89938750	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89938750G>A	ENST00000405460.2	+	13	2541	c.2445G>A	c.(2443-2445)gaG>gaA	p.E815E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	815					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		ACCGAGTAGAGCCAAGAGATA	0.428000													44	115					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996811	98996811	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98996811G>A	ENST00000393504.1	+	4	806	c.389G>A	c.(388-390)gGg>gAg	p.G130E	CNGA3_ENST00000409937.1_Missense_Mutation_p.G134E|CNGA3_ENST00000436404.2_Missense_Mutation_p.G130E|CNGA3_ENST00000272602.2_Missense_Mutation_p.G130E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	130					signal transduction|visual perception	integral to membrane	cGMP binding	p.G130E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAGACAGAGGGAGAAGGTAA	0.572000													8	40					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017736	161017736	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161017736C>T	ENST00000368013.3	-	12	3395	c.3075G>A	c.(3073-3075)ggG>ggA	p.G1025G	ARHGAP30_ENST00000368016.3_Silent_p.G814G|ARHGAP30_ENST00000368015.1_Silent_p.G848G	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1025					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAGTAATCCCCACCCTCAG	0.592000													7	143					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782547	140782547	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140782547C>T	ENST00000573521.1	+	1	28	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGCTCCGCGGAAGATT	0.537000													23	27					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525066	9525066	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9525066G>A	ENST00000378429.3	-	9	2365	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	PAK7_ENST00000353224.5_Missense_Mutation_p.P607S|PAK7_ENST00000378423.1_Missense_Mutation_p.P607S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	607	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCCAGTAGGGAGTGCCAACC	0.498000													18	150					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624304	53624304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:53624304G>A	ENST00000219022.2	+	5	1009	c.931G>A	c.(931-933)Gat>Aat	p.D311N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	311	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CACACTGGATGATTTGCTATT	0.428000													45	92					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480946	20480946	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20480946G>A	ENST00000573854.1	+	4	615	c.501G>A	c.(499-501)gtG>gtA	p.V167V	ACSM2A_ENST00000219054.6_Silent_p.V167V|ACSM2A_ENST00000396104.2_Silent_p.V167V|ACSM2A_ENST00000424070.1_Silent_p.V167V|ACSM2A_ENST00000417235.2_Silent_p.V88V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.V167V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	167					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						TCCAAGAAGTGGACACAGTGG	0.453000													74	153					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:24509862G>A	ENST00000264463.4	-	7	1576	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)			35	33					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76736794	76736794	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76736794G>A	ENST00000296679.4	-	9	1101	c.726C>T	c.(724-726)gtC>gtT	p.V242V	WDR41_ENST00000507029.1_Silent_p.V187V|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCAGCTCTCCGACGTGGGAGC	0.453000													23	62					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305221	54305221	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54305221G>A	ENST00000545554.1	+	1	121	c.121G>A	c.(121-123)Gat>Aat	p.D41N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D41N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D41N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	41					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGAAAAAGGATCAAGACTT	0.368000													32	74					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53736797	53736797	+	Silent	SNP	G	G	A	rs35434249	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:53736797G>A	ENST00000288139.3	+	9	1468	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P	CACNA1D_ENST00000422281.2_Silent_p.P450P|CACNA1D_ENST00000350061.5_Silent_p.P450P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	450					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACATCGATCCGGAGAATGAGG	0.547000													21	41					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968546	87968546	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:87968546C>T	ENST00000307808.6	+	3	1258	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	AFF1_ENST00000395146.4_Missense_Mutation_p.P287S|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	280						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCCTCCCTCCCCTCAAAAAG	0.547000													87	181					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949293	26949293	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:26949293G>A	ENST00000539517.2	-	3	654	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	NOVA1_ENST00000344429.5_Missense_Mutation_p.H113Y|NOVA1_ENST00000574031.1_Missense_Mutation_p.H113Y|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Missense_Mutation_p.H113Y|NOVA1_ENST00000465357.2_Missense_Mutation_p.H113Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	116	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGAATCCATGAACTGCATTC	0.438000													30	77					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145041668	145041668	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:145041668C>T	ENST00000360771.4	-	2	226	c.111G>A	c.(109-111)aaG>aaA	p.K37K	GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.K37K|GYPA_ENST00000535709.1_Silent_p.K11K|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000504786.1_Silent_p.K37K|GYPA_ENST00000503627.1_Silent_p.K37K|GYPA_ENST00000512789.1_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	37					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AGATGTAACTCTTTGTGACTG	0.358000													7	32					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65496732	65496732	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65496732G>A	ENST00000261883.4	-	6	959	c.793C>T	c.(793-795)Cct>Tct	p.P265S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	265					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACAAGCCAGGGATTCGGAAT	0.567000													61	117					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324477	3324477	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3324477C>T	ENST00000291231.1	+	1	616	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACTCAATGAGCTGCTGCTCTT	0.552000													48	86					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107713013	107713013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:107713013G>A	ENST00000280758.5	+	1	824	c.296G>A	c.(295-297)tGg>tAg	p.W99*	BTBD11_ENST00000420571.2_Nonsense_Mutation_p.W99*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.W99*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	99						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGGTCCCCTGGACTCTCCAG	0.711000													5	11					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877860	151877860	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151877860G>A	ENST00000355193.2	-	36	7303	c.7085C>T	c.(7084-7086)tCa>tTa	p.S2362L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S2362L					lysine (K)-specific methyltransferase 2C																		AGTTACTCCTGAAGTTGGCAC	0.443000													5	129					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028589	27028589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27028589C>T	ENST00000314616.6	+	37	5410	c.5127C>T	c.(5125-5127)acC>acT	p.T1709T	SUPT6H_ENST00000347486.4_Silent_p.T1709T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1709					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCGAAAGCACCCCCATGTCCA	0.627000													32	81					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111071141	111071141	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:111071141C>T	ENST00000379671.3	-	4	331	c.67G>A	c.(67-69)Gga>Aga	p.G23R	NREP_ENST00000419114.2_Missense_Mutation_p.G23R|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.G67R|NREP_ENST00000508870.1_Missense_Mutation_p.G23R|NREP_ENST00000455559.2_Missense_Mutation_p.G23R|NREP_ENST00000515855.1_Missense_Mutation_p.G23R|NREP_ENST00000509427.1_Missense_Mutation_p.G23R|NREP_ENST00000257435.7_Missense_Mutation_p.G23R|NREP_ENST00000509025.1_Missense_Mutation_p.G23R|NREP_ENST00000447165.2_Missense_Mutation_p.G23R|NREP_ENST00000446294.2_Missense_Mutation_p.G23R|NREP_ENST00000453526.2_Missense_Mutation_p.G23R|NREP_ENST00000450761.2_Missense_Mutation_p.G23R|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000509979.1_Missense_Mutation_p.G23R	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	23						cytoplasm											GGAAGCCTTCCCTCCATGTCC	0.333000													37	75					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588211	72588211	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72588211C>T	ENST00000392620.1	+	3	388	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S9F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	9						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTGTCATTTTCCCTGACATGT	0.468000													75	228					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18933792	18933792	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:18933792C>T	ENST00000284878.7	+	6	1579	c.831C>T	c.(829-831)atC>atT	p.I277I	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Silent_p.I277I|CXADR_ENST00000306618.10_Silent_p.I236I	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATCACGATATCAGGTAATTAA	0.363000													15	36					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861906	25861906	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:25861906C>T	ENST00000397060.4	-	5	680	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SLC17A3_ENST00000360657.3_Missense_Mutation_p.E113K|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E113K	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	113					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCCCACTTTTCCCAAATTGCA	0.403000													89	116					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108417537	108417537	+	Missense_Mutation	SNP	G	G	A	rs61761613		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:108417537G>A	ENST00000370056.4	-	2	581	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	VAV3_ENST00000371846.4_Missense_Mutation_p.R38C|VAV3_ENST00000527011.1_Missense_Mutation_p.R103C	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	103	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|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|metal ion binding|SH3/SH2 adaptor activity			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)		CCAAAGTCACGAACATCAAAC	0.358000													24	57					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226564	152226564	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152226564C>T	ENST00000243347.3	+	4	500	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	142	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTACAGATCCAAAGCAAATT	0.383000													48	135					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101041977	101041977	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101041977C>A	ENST00000284382.4	-	4	501	c.78G>T	c.(76-78)gaG>gaT	p.E26D	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.E26D|CERS3_ENST00000394113.1_Missense_Mutation_p.E26D	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	26						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CATCGTGATCCTCAAGATCTG	0.373000													5	104					0.014758	0.014773	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058083	152058083	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152058083T>A	ENST00000368806.1	-	3	2139	c.2075A>T	c.(2074-2076)aAg>aTg	p.K692M		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	692							calcium ion binding	p.K692R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTATCTCCCTTTCCAGGGAG	0.453000													5	338					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340633	121340633	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121340633C>T	ENST00000338040.4	+	3	771	c.357C>T	c.(355-357)acC>acT	p.T119T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	119					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGAAAGAGACCCCCAGTGAGG	0.537000													22	61					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920823	247920823	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247920823C>T	ENST00000408896.2	-	1	1159	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCTTCATATCCCTGTTCCTT	0.428000													88	76					0	0	1	0	0
TRBJ2-6	28623	broad.mit.edu	37	7	142494932	142494932	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142494932C>T	ENST00000390418.1	+	0	10																											GCTCTGGGGCCAACGTCCTGA	0.726000													21	84					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68525198	68525198	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68525198C>T	ENST00000265641.5	-	19	2390	c.2235_splice	c.e19-1	p.D746_splice	CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Splice_Site_p.D746_splice|CPT1A_ENST00000376618.2_Intron	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	746					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGATGAGAATCCTTTCATGTA	0.373000													32	60					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598254	175598254	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:175598254G>A	ENST00000274093.3	-	7	1404	c.902C>T	c.(901-903)tCa>tTa	p.S301L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S301L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	301					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)	TCGTGATCCTGAACTCTGTGT	0.448000													5	58					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052020	9052020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:9052020C>T	ENST00000382496.5	-	20	3475	c.2810G>A	c.(2809-2811)aGc>aAc	p.S937N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	937	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACACGGCCGGCTCTCCGTGGT	0.522000													18	40					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233638	63233638	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63233638C>T	ENST00000540857.1	-	5	793	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	HRASLS5_ENST00000301790.4_Missense_Mutation_p.G231R|HRASLS5_ENST00000539221.1_Missense_Mutation_p.G231R	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	231										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCACAGTTCCCTTCAATCAGG	0.512000													32	77					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170728	18170728	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:18170728C>T	ENST00000600835.1	-	17	2262	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	IL12RB1_ENST00000593993.1_Silent_p.E653E|IL12RB1_ENST00000430026.2_Silent_p.E653E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	653					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|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|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	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTCTCCATCCTCCAAGGACA	0.637000													5	14					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752136	140752136	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140752136C>T	ENST00000576222.1	+	1	2306	c.2175C>T	c.(2173-2175)ggC>ggT	p.G725G	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGAGGGCTACTTTCAGC	0.562000													30	64					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15417144	15417144	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:15417144G>A	ENST00000281513.5	-	43	5245	c.5220C>T	c.(5218-5220)caC>caT	p.H1740H	NBAS_ENST00000441750.1_Silent_p.H1620H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1740										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCATGTGCTGGTGAAAGGCTT	0.408000													28	49					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136508538	136508538	+	Missense_Mutation	SNP	G	G	A	rs5323		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136508538G>A	ENST00000393056.2	+	4	760	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	250			E -> Q (in dbSNP:rs5323).		hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCACAGTACGAGCCCATCGT	0.652000													33	81					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584386	1584386	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:1584386C>T	ENST00000381297.4	-	2	1276	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	356						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACACACTCTCCTGCCTCTGG	0.701000			T	CRLF2	"""B-ALL, Downs associated ALL"""								75	54					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821806	5821806	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:5821806C>T	ENST00000381095.3	-	5	1540	c.913G>A	c.(913-915)Ggc>Agc	p.G305S	NLGN4X_ENST00000538097.1_Missense_Mutation_p.G305S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G325S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G305S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G305S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	305					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTTGCAGCCGACCTTGTCT	0.572000													13	113					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484341	87484341	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87484341C>T	ENST00000327946.7	-	11	1711	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	GRID1_ENST00000536331.1_Silent_p.G113G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	542						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TAATTAGAATCCCCACTGAAT	0.522000										Multiple Myeloma(13;0.14)			36	59					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715125	92715125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92715125G>A	ENST00000257068.2	+	2	742	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	246					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GAAGCCCAGCGACTTGCGGAG	0.577000													49	46					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67487246	67487246	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:67487246G>A	ENST00000235345.5	-	9	854	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	SLC35D1_ENST00000506472.2_Silent_p.L178L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	257					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTGAACTGCAGAAGAAAGAGG	0.433000													37	85					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160945120	160945120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:160945120C>T	ENST00000460469.1	+	3	720	c.265C>T	c.(265-267)Cct>Tct	p.P89S	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.P89S|NMD3_ENST00000351193.2_Missense_Mutation_p.P89S			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	89					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATCAAAGCCCCTCTGAGTAA	0.343000													25	54					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167328941	167328941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167328941C>T	ENST00000409855.1	-	5	584	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	153					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGTAAATTCCAAGCAAAGT	0.358000													6	19					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509499	130509499	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130509499C>T	ENST00000314830.8	-	6	1304	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SH2D3C_ENST00000420366.1_Missense_Mutation_p.M239I|SH2D3C_ENST00000373276.3_Missense_Mutation_p.M329I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.M43I|SH2D3C_ENST00000373277.4_Missense_Mutation_p.M240I|SH2D3C_ENST00000373274.3_Missense_Mutation_p.M237I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	397					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATCTGGTCCATGCTGAGGG	0.662000													32	61					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133476661	133476661	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133476661C>T	ENST00000402696.3	+	8	1404	c.919C>T	c.(919-921)Cct>Tct	p.P307S	TF_ENST00000264998.3_Missense_Mutation_p.P180S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	307	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATTCAGCTCTCCTCATGGGAA	0.453000													34	76					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482224	156482224	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156482224C>T	ENST00000339252.3	-	2	899	c.367G>A	c.(367-369)Gag>Aag	p.E123K	HAVCR1_ENST00000544197.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000523175.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000425854.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000522693.1_Missense_Mutation_p.E123K	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	123					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCACAATCTCCAATGATACG	0.378000													26	63					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284779	52284779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52284779C>T	ENST00000301190.6	+	5	1276	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	225										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGTACTGCCCCGCCCCCTCCC	0.652000													17	29					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883326	131883326	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131883326C>T	ENST00000359827.3	-	13	3618	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E886K			Q9HCM2	PLXA4_HUMAN	plexin A4	886	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGCGAAATTCCAGGCCCAGG	0.552000													42	120					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35707817	35707817	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35707817G>A	ENST00000314888.9	-	35	4896	c.4543C>T	c.(4543-4545)Cgt>Tgt	p.R1515C	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.R1515C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1515	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGTGGTACGGGCAGAAGCC	0.542000													17	253					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75078435G>A	ENST00000326665.5	-	9	1277	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	C1orf173_ENST00000420661.2_Silent_p.F156F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000													27	65					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902082	51902082	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:51902082G>A	ENST00000268919.4	+	1	1844	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	563					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGGCACCAAGGATGTTAAAA	0.378000													29	86					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935642	83935642	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83935642G>A	ENST00000345382.2	-	3	466	c.381C>T	c.(379-381)atC>atT	p.I127I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.I120I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	127					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCATGGAGGATCTGGAGAA	0.498000													52	101					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225611622	225611622	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:225611622A>C	ENST00000338179.2	-	2	281	c.156T>G	c.(154-156)aaT>aaG	p.N52K	LBR_ENST00000272163.4_Missense_Mutation_p.N52K	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	52	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCTTAATATCATTCTCTTTCA	0.383000													120	366					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806208	97806208	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97806208C>T	ENST00000358642.2	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	64					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						TGTACTTATTCCTTGGTGGTT	0.433000													67	193					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058846	42058846	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:42058846C>T	ENST00000219905.7	+	24	8747	c.8566C>T	c.(8566-8568)Cca>Tca	p.P2856S	MGA_ENST00000566586.1_Missense_Mutation_p.P2647S|MGA_ENST00000545763.1_Missense_Mutation_p.P2647S|MGA_ENST00000389936.4_Missense_Mutation_p.P2817S|MGA_ENST00000570161.1_Missense_Mutation_p.P2856S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2817						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TACAGAGTTCCCAGGGGATGC	0.468000													52	114					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237550652	237550652	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:237550652A>T	ENST00000366574.2	+	9	965	c.648A>T	c.(646-648)ccA>ccT	p.P216P	RYR2_ENST00000360064.6_Silent_p.P214P|RYR2_ENST00000542537.1_Silent_p.P200P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	216	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGTGGCCCCAATCAGCTCAG	0.502000													14	186					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52497133	52497133	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:52497133G>A	ENST00000261839.7	-	38	4910	c.4749C>T	c.(4747-4749)atC>atT	p.I1583I	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1583	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGACCGCCCCGATCAAGAAGA	0.582000													25	39					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42789028	42789028	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:42789028G>A	ENST00000372980.3	-	2	1271	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	133	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCGTTGGTGAACTGGCCTT	0.716000													12	18					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19612666	19612666	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:19612666C>T	ENST00000507958.1	-	8	1678	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CDH18_ENST00000506372.1_Missense_Mutation_p.E230K|CDH18_ENST00000274170.4_Missense_Mutation_p.E230K|CDH18_ENST00000502796.1_Missense_Mutation_p.E230K|CDH18_ENST00000511273.1_Missense_Mutation_p.E230K|CDH18_ENST00000382275.1_Missense_Mutation_p.E230K			Q13634	CAD18_HUMAN	cadherin 18, type 2	230	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAGTAATGTTCTCTGGCTTCT	0.388000													17	63					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79437143	79437143	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79437143G>A	ENST00000264895.6	+	66	10805	c.10365G>A	c.(10363-10365)ggG>ggA	p.G3455G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3450					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACGTCTGTGGGGGCTCTGTAA	0.527000													17	26					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211644	78211644	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78211644G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGGGCGCCAGGGATAGGGGCT	0.522000													40	67					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415781	57415781	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57415781C>T	ENST00000313949.7	+	1	1009	c.620C>T	c.(619-621)tCg>tTg	p.S207L	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.S207L|GNAS_ENST00000371098.2_Missense_Mutation_p.S207L|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	329					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCGAAGAGTCGAAGGAGCCC	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			18	14					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79517019	79517019	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79517019G>A	ENST00000264908.6	+	9	991	c.612G>A	c.(610-612)agG>agA	p.R204R	ANXA3_ENST00000503570.2_Silent_p.R165R|ANXA3_ENST00000512884.1_Silent_p.R165R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	204					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTGTTTAAGGAGCTTTCCTC	0.338000													10	22					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542890	75542890	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75542890C>T	ENST00000372833.5	+	3	315	c.302C>T	c.(301-303)cCa>cTa	p.P101L	CHCHD1_ENST00000372837.3_3'UTR	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	101						nucleus				breast(1)	1	Prostate(51;0.0112)					AGTTTACTTCCAAATAAATTG	0.373000													40	82					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38103428	38103428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:38103428C>T	ENST00000290399.6	+	7	1439	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	SIM2_ENST00000430056.3_Missense_Mutation_p.H276Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	276	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CGACGTGTTCCACCTCCGCTA	0.667000													21	57					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094453	150094453	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150094453C>T	ENST00000329630.5	+	3	991	c.884C>T	c.(883-885)tCg>tTg	p.S295L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGGTCGTCGCTGAACATC	0.711000													16	92					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452532	26452532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26452532G>A	ENST00000244519.2	+	11	1891	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	BTN3A3_ENST00000339789.4_Missense_Mutation_p.E508K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.E501K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	550						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCCTCAGGCTGAAGTAACATC	0.547000													19	71					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21562382	21562382	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:21562382G>A	ENST00000415912.2	-	13	1604	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ECE1_ENST00000374893.6_Silent_p.F509F|ECE1_ENST00000357071.4_Silent_p.F497F|ECE1_ENST00000436918.2_Silent_p.F509F|ECE1_ENST00000264205.6_Silent_p.F506F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCCATGATGAAGTTGGGGT	0.552000													65	134					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531867	31531867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31531867G>A	ENST00000215885.3	-	7	1624	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	458					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CGCCTCTGCTGAAGCCTCCGC	0.587000													54	105					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471535	56471535	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:56471535C>A	ENST00000370754.5	-	39	7791	c.7792G>T	c.(7792-7794)Gat>Tat	p.D2598Y	DST_ENST00000446842.2_Missense_Mutation_p.D2094Y|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D2420Y|DST_ENST00000370769.4_Missense_Mutation_p.D2420Y|DST_ENST00000312431.6_Missense_Mutation_p.D2420Y|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2420	Poly-Asp.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCACGATCATCACCATCAAGA	0.413000													92	88					4.85238e-36	4.9116e-36	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111940000	111940000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111940000C>T	ENST00000305815.5	-	14	1897	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E501K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	549					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCAAAACTTTCTGCTGCACCA	0.388000													26	47					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446075	51446075	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:51446075G>A	ENST00000338969.5	-	12	2732	c.2343C>T	c.(2341-2343)agC>agT	p.S781S	TRIM9_ENST00000298355.3_Intron			Q9C026	TRIM9_HUMAN	tripartite motif containing 9	0					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCCAGCAACAGCTGTTTAACC	0.557000													41	73					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118454665	118454665	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:118454665C>A	ENST00000311085.8	+	8	979	c.899C>A	c.(898-900)gCt>gAt	p.A300D	DMXL1_ENST00000539542.1_Missense_Mutation_p.A300D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	300										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAGAGAAATGCTTCCAGTAAA	0.333000													22	76					2.21704e-12	2.23277e-12	1	1	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:28719005C>T	ENST00000422425.2	+	1	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_ENST00000327757.5_Silent_p.F8F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000													10	162					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	882907	882907	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:882907G>A	ENST00000336868.3	-	1	103	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	4					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTCCTCCAGGAAGCCCGACA	0.761000													7	8					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54757016	54757016	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54757016C>T	ENST00000551809.1	-	1	1255	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R207Q			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGTGCTGCTCGTTTGACCTG	0.567000													56	163					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142606661	142606661	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142606661G>A	ENST00000265310.1	-	14	2238	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	630					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)					CTCACCGCAGGAACCAGCGGT	0.617000													26	81					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	G	A	rs151037028		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46826469G>A	ENST00000283296.7	-	17	3459	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_ENST00000456426.2_Silent_p.I915I|GPR116_ENST00000362015.4_Silent_p.I1057I|GPR116_ENST00000265417.7_Silent_p.I1057I|GPR116_ENST00000545669.1_Silent_p.I486I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000													9	123					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52380537	52380537	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52380537G>A	ENST00000420592.1	-	5	1614	c.281C>T	c.(280-282)cCa>cTa	p.P94L	ZNF577_ENST00000412216.1_Missense_Mutation_p.P94L|ZNF577_ENST00000301399.5_Missense_Mutation_p.P94L|ZNF577_ENST00000451628.2_Missense_Mutation_p.P94L|ZNF577_ENST00000485702.1_5'UTR			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	153	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACTTACCTGGACAGATTTG	0.478000													37	74					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93742443	93742443	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:93742443C>T	ENST00000265990.6	+	18	2456	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	716					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TACTACTCTTCCATTTGAACT	0.403000													30	73					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801027	185801027	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:185801027G>A	ENST00000302277.6	+	4	1498	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	302						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGTCTCTAGTGAAAAAGATGC	0.343000													31	42					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512363	14512363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14512363C>T	ENST00000242786.5	+	10	1143	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	CD97_ENST00000357355.3_Missense_Mutation_p.P306S|CD97_ENST00000358600.3_Missense_Mutation_p.P262S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	355					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTACATTTCCCCTTCGAACAC	0.602000													8	90					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131562	110131562	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110131562G>A	ENST00000518632.1	+	3	1426	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	TRHR_ENST00000311762.2_Missense_Mutation_p.E359K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	359						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CGTCATCAAGGAGTCAGACCA	0.468000													7	206					0	0	1	0	0
PFDN4	5203	broad.mit.edu	37	20	52831931	52831931	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:52831931C>T	ENST00000371419.2	+	3	479	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	75					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GTGATGTCTTCATTAGCCATT	0.313000													34	48					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94100900	94100900	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94100900G>A	ENST00000553484.1	+	33	5970	c.5816G>A	c.(5815-5817)gGa>gAa	p.G1939E	UNC79_ENST00000393151.2_Missense_Mutation_p.G1917E|UNC79_ENST00000555664.1_Intron|UNC79_ENST00000256339.4_Missense_Mutation_p.G1740E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1917						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGATCCCTGGGAGTTCTGACA	0.468000													65	107					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541564	187541564	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187541564G>A	ENST00000441802.2	-	10	6385	c.6176C>T	c.(6175-6177)cCt>cTt	p.P2059L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2059	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACTGCAGAAGGCTTATGTTC	0.512000										HNSCC(5;0.00058)			71	175					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092671	39092671	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39092671C>T	ENST00000209718.3	-	2	609	c.185G>A	c.(184-186)gGa>gAa	p.G62E	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	62	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGCTTCTTCCAGAACCCCA	0.667000													62	115					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64616012	64616012	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:64616012C>T	ENST00000311915.8	-	1	33	c.6G>A	c.(4-6)ggG>ggA	p.G2G	C12orf66_ENST00000544871.1_Silent_p.G2G|C12orf66_ENST00000398055.3_Silent_p.G2G|C12orf66_ENST00000540673.1_5'UTR			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	2										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGATAGACTCCCCCATGCGAG	0.652000													14	29					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092692	30092692	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:30092692G>A	ENST00000567636.1	+	0	1067					NR_003558.1																						AGACAACAATGAAAAAAAGAA	0.443000													15	31					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133975258	133975258	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133975258G>A	ENST00000220616.4	+	29	5527	c.5487G>A	c.(5485-5487)cgG>cgA	p.R1829R	TG_ENST00000377869.1_Silent_p.R1772R|TG_ENST00000542445.1_Silent_p.R199R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1829					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGGGTCTCGGCCTGAGTCTA	0.478000													162	284					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202709885	202709885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:202709885G>A	ENST00000367265.3	-	20	4165	c.3001C>T	c.(3001-3003)Cct>Tct	p.P1001S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1037S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1001					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGATATGCAGGGATCTCTTCG	0.448000													7	137					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155082	94155082	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94155082C>T	ENST00000553484.1	+	46	7318	c.7164C>T	c.(7162-7164)gcC>gcT	p.A2388A	UNC79_ENST00000393151.2_Silent_p.A2366A|UNC79_ENST00000555664.1_Silent_p.A2327A|UNC79_ENST00000256339.4_Silent_p.A2189A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2366						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGGGCTGGCCCAGATTGCAG	0.507000													36	72					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24685044	24685044	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24685044G>A	ENST00000374409.1	-	9	1248	c.994C>T	c.(994-996)Ccg>Tcg	p.P332S	STPG1_ENST00000468303.1_5'UTR|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Missense_Mutation_p.P285S|STPG1_ENST00000337248.4_Missense_Mutation_p.P332S|STPG1_ENST00000003583.8_Missense_Mutation_p.P285S	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TACAGAACCGGGATCCATTTC	0.562000													31	46					0	0	1	0	0
TRBJ2-6	28623	broad.mit.edu	37	7	142494931	142494931	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142494931C>T	ENST00000390418.1	+	0	9																											TGCTCTGGGGCCAACGTCCTG	0.731000													20	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577262	179577262	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179577262C>T	ENST00000589042.1	-	95	27611	c.27387G>A	c.(27385-27387)ctG>ctA	p.L9129L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L8812L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L7885L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8812	Ig-like 74.						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)			CCTCTAGGATCAGGGGTTTTC	0.388000													12	20					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284184	159284184	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159284184G>A	ENST00000332217.5	-	1	265	c.266C>T	c.(265-267)cCt>cTt	p.P89L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGCTGATGAGGATTCAAGAG	0.498000													45	120					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149355	41149355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41149355C>T	ENST00000263413.3	-	17	2875	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	C6_ENST00000337836.5_Missense_Mutation_p.E871K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	871	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E871K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAACATTTTTCCCAGTCATAG	0.418000													109	385					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38104139	38104139	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38104139G>A	ENST00000308059.6	+	5	962	c.941G>A	c.(940-942)aGa>aAa	p.R314K	DLEC1_ENST00000452631.2_Missense_Mutation_p.R314K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R314K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	314					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGCTAGACAGACTTCTGCTT	0.423000													18	54					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307216	39307216	+	Missense_Mutation	SNP	A	A	G	rs137854870		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:39307216A>G	ENST00000541347.1	-	2	1024	c.785T>C	c.(784-786)tTt>tCt	p.F262S	CX3CR1_ENST00000358309.3_Missense_Mutation_p.F294S|CX3CR1_ENST00000542107.1_Missense_Mutation_p.F262S|CX3CR1_ENST00000399220.2_Missense_Mutation_p.F262S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	262					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)		ACAACTGGGAAAGAAGTCATA	0.463000													50	119					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195295876	195295876	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195295876G>A	ENST00000343267.3	-	5	826	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	155					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTTCTGGAGGGAGATTAGGGT	0.443000													44	158					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201779084	201779084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201779084C>T	ENST00000367296.4	+	23	4832	c.4412C>T	c.(4411-4413)tCt>tTt	p.S1471F	NAV1_ENST00000367300.3_Missense_Mutation_p.S1411F|NAV1_ENST00000295624.6_Missense_Mutation_p.S1468F|NAV1_ENST00000367302.1_Missense_Mutation_p.S1424F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S1077F|NAV1_ENST00000367297.4_Missense_Mutation_p.S1463F	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1471					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GACTATATTTCTAAAATGGAC	0.458000													38	79					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761975	31761975	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31761975G>A	ENST00000253362.2	+	4	539	c.393G>A	c.(391-393)gcG>gcA	p.A131A	BPIFA2_ENST00000354932.5_Silent_p.A131A			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	131						extracellular region	lipid binding										CTGTCACCGCGAATGTCACTG	0.532000													52	94					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008484	176008484	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176008484C>T	ENST00000510636.1	+	17	2233	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CDHR2_ENST00000261944.5_Silent_p.I653I|CDHR2_ENST00000506348.1_Silent_p.I653I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	653	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGAGGCCATCGACCCCGCCC	0.617000													10	89					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891625	5891625	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:5891625G>A	ENST00000581347.1	-	3	1083	c.438C>T	c.(436-438)tcC>tcT	p.S146S	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.S146S			A6NKL6	T200C_HUMAN	transmembrane protein 200C	146						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCACGGACGTGGAGGAGGAGG	0.652000													27	56					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588355	72588355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72588355C>T	ENST00000392620.1	+	3	532	c.170C>T	c.(169-171)tCt>tTt	p.S57F	CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.S57F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	57				S -> T (in Ref. 1; AK056444).		extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CCTGTCTCCTCTCCTCTCCTT	0.552000													16	91					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280594	50280594	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:50280594C>T	ENST00000404971.1	-	22	5402	c.4063G>A	c.(4063-4065)Gat>Aat	p.D1355N	NRXN1_ENST00000405472.3_Missense_Mutation_p.D1307N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1285N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1285N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D250N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1315N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1307N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D303N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1285					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTTGGCATCGTTTTCGGCT	0.507000													30	92					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295377	133295377	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:133295377G>A	ENST00000231512.3	-	2	676	c.474C>T	c.(472-474)ggC>ggT	p.G158G	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	158						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CGTCCCTGGGGCCCGTGGTCC	0.473000													41	86					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149083	50149083	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:50149083C>T	ENST00000404971.1	-	24	5982	c.4643G>A	c.(4642-4644)tGa>tAa	p.*1548*	NRXN1_ENST00000405472.3_Silent_p.*1500*|NRXN1_ENST00000406859.3_Silent_p.*1478*|NRXN1_ENST00000406316.2_Silent_p.*1478*|NRXN1_ENST00000342183.5_Silent_p.*443*|NRXN1_ENST00000401669.2_Silent_p.*1508*|NRXN1_ENST00000402717.3_Silent_p.*1500*|NRXN1_ENST00000401710.1_Silent_p.*496*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCTTGGGATCAGACATAATA	0.338000													5	91					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15470634	15470634	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:15470634G>A	ENST00000342526.3	-	4	678	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	170					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACTTACCCAGGAAGTATATAT	0.333000													7	70					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100542371	100542371	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100542371G>A	ENST00000457717.1	+	18	2752	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.K859K|MTTP_ENST00000265517.5_Silent_p.K832K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	832					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGATGGACAAGGATGAAGCTC	0.468000													7	213					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37247221	37247221	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:37247221C>T	ENST00000373491.3	+	3	401	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	85						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CACCTTCTTTCCAAACTCTGA	0.458000													52	131					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270048	67270048	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:67270048G>A	ENST00000356404.3	-	3	445	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R74W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R74W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	74					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCAGTGCCCGGAACCAGCCT	0.652000													57	84					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222429090	222429090	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:222429090C>T	ENST00000281821.2	-	3	225	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	EPHA4_ENST00000409854.1_Missense_Mutation_p.E62K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E62K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E11K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	62						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTATTTTTTTCATCCATGATA	0.428000													71	132					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79916861	79916861	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79916861G>A	ENST00000409678.3	-	4	866	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	161						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGAGGACAGGATCCCTGTGC	0.627000													17	120					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105169000	105169000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:105169000C>T	ENST00000428173.2	+	19	3595	c.3292C>T	c.(3292-3294)Cag>Tag	p.Q1098*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q1097*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1097							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						ACCTGCGTCTCAGGACTTTGA	0.453000										HNSCC(51;0.14)			38	23					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413810	39413810	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39413810C>T	ENST00000361441.3	+	3	494	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	72					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AAGGTGCTTCCTCTCTTGGTT	0.577000													35	310					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962216	165962216	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:165962216G>A	ENST00000512596.1	+	3	1208	c.992G>A	c.(991-993)aGg>aAg	p.R331K	TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	331	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATGACCCAAGGAGATTTTAT	0.408000													38	100					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794355	6794355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6794355G>A	ENST00000297435.2	-	2	191	c.67C>T	c.(67-69)Cag>Tag	p.Q23*		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	23					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCTCTTGCCTGGAGTGGGCCT	0.587000													37	56					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10158008	10158008	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10158008G>A	ENST00000495140.1	+	0	1216																		p.S57S(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCTGTGTCTCGGACCCCTTTG	0.542000													71	166					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6930390	6930390	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6930390G>A	ENST00000293805.5	+	8	1399	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	436						nucleus	zinc ion binding			skin(1)	1						ATCCACACCGGAGAGAAGCCT	0.632000													36	81					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136099	156136099	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:156136099C>T	ENST00000329476.3	+	2	1497	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	NPY2R_ENST00000506608.1_Silent_p.F336F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	336					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAGGCTTTCCTCTCGGCCT	0.498000													39	72					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16199407	16199407	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16199407G>A	ENST00000375759.3	+	2	384	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	60	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGTGCACAGAAAGCTCACA	0.498000													7	125					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129455863	129455863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:129455863C>T	ENST00000355497.5	+	5	809	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	LMX1B_ENST00000373474.4_Nonsense_Mutation_p.Q268*|LMX1B_ENST00000526117.1_Nonsense_Mutation_p.Q268*|LMX1B_ENST00000425646.2_Nonsense_Mutation_p.Q245*|LMX1B_ENST00000561065.1_Nonsense_Mutation_p.Q245*	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	245					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GGTCTGGTTTCAGAACCAAAG	0.652000									Nail-Patella Syndrome				35	70					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186360341	186360341	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186360341C>T	ENST00000265029.3	+	3	519	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	FETUB_ENST00000382134.3_Intron|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R140C|FETUB_ENST00000488561.1_Intron|FETUB_ENST00000382136.3_Missense_Mutation_p.R103C|FETUB_ENST00000539949.1_Intron	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	140						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTGTACTCTTCGCCCAGGTAA	0.348000													41	82					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169145414	169145414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169145414G>A	ENST00000393743.3	-	35	5095	c.4804C>T	c.(4804-4806)Cga>Tga	p.R1602*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1602							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTCTAGTCGAAGCAAATCA	0.373000													21	53					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987811	61987811	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61987811G>A	ENST00000392824.4	-	2	545	c.484C>T	c.(484-486)Cct>Tct	p.P162S	CSHL1_ENST00000561003.1_Missense_Mutation_p.S9F|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.S30F|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.S92F|CSHL1_ENST00000438387.2_Missense_Mutation_p.S9F			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CATGTTGGAGGATGTCGGAAT	0.547000													7	336					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647532	92647532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:92647532G>A	ENST00000318445.6	+	4	983	c.769G>A	c.(769-771)Gac>Aac	p.D257N	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.D257N	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	257					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CACTCCGGACGACCCCCGCTG	0.542000													11	307					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52177794	52177794	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:52177794G>A	ENST00000282588.6	+	7	1172	c.714G>A	c.(712-714)aaG>aaA	p.K238K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	238	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTGCAGCAAAGAAAATAGTCC	0.398000													29	51					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70321112	70321112	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:70321112C>T	ENST00000374259.3	+	2	1364	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FOXO4_ENST00000341558.3_Silent_p.S289S	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	344					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ACAGCAGCTCCCTTTTCAGCC	0.607000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	22					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21024623	21024623	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21024623G>A	ENST00000557068.1	-	4	2331	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RNASE9_ENST00000555230.1_Silent_p.V202V|RNASE9_ENST00000557209.1_Silent_p.V207V|RNASE9_ENST00000338904.3_Silent_p.V202V|RNASE9_ENST00000554964.1_Silent_p.V202V|RNASE9_ENST00000556208.1_Silent_p.V207V|RNASE9_ENST00000429244.2_Silent_p.V202V|RNASE9_ENST00000404716.3_Silent_p.V207V|RNASE9_ENST00000553706.1_Silent_p.V207V|RNASE9_ENST00000553541.1_Silent_p.V202V			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	202						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AGGGCGATATGACAAAGACAC	0.418000													5	71					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032891	30032891	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:30032891G>A	ENST00000328224.6	-	2	2568	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	445						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAGACGAATGATTCTGAGGA	0.572000													38	77					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955795	18955795	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:18955795G>A	ENST00000302797.3	-	1	761	c.537C>T	c.(535-537)atC>atT	p.I179I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	179					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACGCGACTGTGATGAAATCTG	0.527000													30	60					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166403432	166403432	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:166403432G>A	ENST00000402744.4	+	4	991	c.711G>A	c.(709-711)atG>atA	p.M237I		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	237					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGGATTATGGATATTCCTT	0.398000													34	69					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34655402	34655402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34655402C>T	ENST00000290200.2	+	5	610	c.502C>T	c.(502-504)Caa>Taa	p.Q168*	AP000295.9_ENST00000433395.2_Silent_p.F295F	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTACTAGTTTCAAATTACTCC	0.398000													30	73					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27806096	27806096	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27806096C>T	ENST00000330180.2	-	1	21	c.22G>A	c.(22-24)Ggc>Agc	p.G8S		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	8					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCTTTGCCGCCCTGCTTGCCA	0.557000													25	111					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178431	65178431	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:65178431C>T	ENST00000310045.7	-	2	4918	c.3445G>A	c.(3445-3447)Gaa>Aaa	p.E1149K	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1139						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAATCCTTTCAGTAGTTTTC	0.383000													16	39					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32955723	32955723	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:32955723C>T	ENST00000321639.5	+	4	1198	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	290						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CACCCCTGCCCCCCAGGTGAG	0.627000													5	20					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26614222	26614222	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:26614222C>T	ENST00000380581.2	-	2	1393	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380582.3_3'UTR|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGTGGGTTTCATGCTCCCCT	0.517000													24	27					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102568304	102568304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102568304G>A	ENST00000334701.7	-	2	555	c.274C>T	c.(274-276)Cct>Tct	p.P92S	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCGGTGACAGGGAATGCAGAG	0.522000													7	150					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001678	177001678	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:177001678C>T	ENST00000367654.2	-	3	792	c.779G>A	c.(778-780)gGa>gAa	p.G260E	ASTN1_ENST00000367657.3_Missense_Mutation_p.G260E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G260E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G260E			O14525	ASTN1_HUMAN	astrotactin 1	260					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						GTCCTCCCCTCCGTTCATGCA	0.602000													104	119					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22671044	22671044	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:22671044G>A	ENST00000333957.4	-	8	1083	c.828C>T	c.(826-828)ccC>ccT	p.P276P	C2CD5_ENST00000542676.1_Silent_p.P276P|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000446597.1_Silent_p.P276P	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AGTGAGTATTGGGATTGGGAT	0.448000													58	137					0	0	1	0	0
WDR53	348793	broad.mit.edu	37	3	196288161	196288161	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:196288161G>A	ENST00000332629.5	-	3	753	c.186C>T	c.(184-186)tcC>tcT	p.S62S	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	62										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TGGTGGGACAGGAGGGAGAAA	0.493000													32	64					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646418	57646418	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57646418G>T	ENST00000269834.1	-	5	1672	c.1287C>A	c.(1285-1287)atC>atA	p.I429I		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAATTTCCGGATGAAGGTTT	0.408000													6	248					0.00198382	0.00198838	1	1	0
MMP16	4325	broad.mit.edu	37	8	89209494	89209494	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89209494G>A	ENST00000286614.6	-	2	455	c.174C>T	c.(172-174)ccC>ccT	p.P58P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	58					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTGACATTCTGGGGTCAGTCG	0.428000													33	62					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238299	34238299	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34238299C>T	ENST00000373381.4	-	13	1893	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	CSMD2_ENST00000338325.1_Missense_Mutation_p.E181K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	533	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGAGCCTTCCCTCCGGCCA	0.517000													28	77					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50666288	50666288	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50666288G>A	ENST00000268459.3	+	9	1016	c.792G>A	c.(790-792)ggG>ggA	p.G264G		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	264					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ATCTCGCCGGGATAGAAAACT	0.592000													4	42					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124043430	124043430	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124043430G>A	ENST00000368994.2	+	4	486	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	BTBD16_ENST00000260723.4_Missense_Mutation_p.G78R			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	78										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CATCCAAAGTGGGGAAGCAGG	0.398000													17	39					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630647	41630647	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41630647C>T	ENST00000331105.2	+	8	1060	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	330					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGAGATCGACCTCGTGGTGGG	0.667000													13	25					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29795666	29795666	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29795666G>A	ENST00000428701.1	+	2	223	c.45G>A	c.(43-45)ggG>ggA	p.G15G	HLA-G_ENST00000376815.3_Silent_p.G15G|HLA-G_ENST00000360323.6_Silent_p.G15G|HLA-G_ENST00000376828.2_Silent_p.G20G|HLA-G_ENST00000376818.3_Silent_p.G15G	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	15					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGCTCTCGGGGGCCCTGACCC	0.701000													29	72					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14041199	14041199	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14041199C>T	ENST00000318003.7	+	29	3088	c.2847C>T	c.(2845-2847)ctC>ctT	p.L949L	CC2D1A_ENST00000589606.1_Silent_p.L948L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	949					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCAGCGGCTCCGCAGGTGAG	0.657000													15	30					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133079012	133079012	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133079012G>A	ENST00000326499.6	-	1	135	c.11C>T	c.(10-12)tCc>tTc	p.S4F	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.S4F|VNN2_ENST00000525270.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	4					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TGGAAAAGAGGAAGTGACCAT	0.413000													65	23					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148702175	148702175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:148702175G>A	ENST00000296721.4	+	15	1803	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E569K	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	569							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGACGAGGAGCCCGAGCG	0.597000													3	6					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140327	129140327	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129140327C>T	ENST00000505956.1	-	2	531	c.369G>A	c.(367-369)aaG>aaA	p.K123K	EFCAB12_ENST00000326085.3_Silent_p.K123K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CCAGCCACCTCTTTACATCAC	0.562000													43	69					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850545	40850545	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:40850545T>C	ENST00000255224.3	-	4	1407	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	347	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGGTGCATTTCTTCACATGA	0.408000													44	81					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52141185	52141185	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52141185G>A	ENST00000596288.1	-	9	1417	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R373C|MCM3_ENST00000229854.7_Missense_Mutation_p.R419C	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	419	MCM.				cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ATGGCTGTGCGATCCATGTCA	0.567000													22	43					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190158	233190158	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233190158C>T	ENST00000258229.8	-	25	4441	c.4207G>A	c.(4207-4209)Gga>Aga	p.G1403R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G55R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1403						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTAAGTCTCCACAGAGGGAC	0.433000													16	55					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57214080	57214080	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:57214080G>A	ENST00000396721.2	-	6	887	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000303749.3_Missense_Mutation_p.H297Y			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	297					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCCATTGCATGAAGGATGCCC	0.383000													88	164					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95875314	95875314	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95875314C>T	ENST00000375464.2	+	6	605	c.477C>T	c.(475-477)ttC>ttT	p.F159F	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	0					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TCCTCGGTTTCTCGCCTGTCA	0.602000													11	20					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844895	55844895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:55844895C>T	ENST00000422046.2	-	10	1389	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	CES1_ENST00000360526.3_Missense_Mutation_p.G372R|CES1_ENST00000361503.4_Missense_Mutation_p.G371R			P23141	EST1_HUMAN	carboxylesterase 1	371					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCCAGTTGCCCTTCGGAGAGT	0.428000													14	10					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406220	67406220	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:67406220G>A	ENST00000382713.5	+	6	809	c.619G>A	c.(619-621)Gga>Aga	p.G207R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	207	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CACAGGAGAAGGACTATTCAC	0.423000													62	123					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176395771	176395771	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:176395771G>A	ENST00000377219.2	-	6	1151	c.985C>T	c.(985-987)Cct>Tct	p.P329S	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.P329S|UIMC1_ENST00000377227.4_Missense_Mutation_p.P329S	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	329	AIR.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGAGAAGGAGGTCTAGGT	0.448000													57	93					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64401764	64401764	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:64401764A>T	ENST00000262043.3	+	5	2667	c.2327A>T	c.(2326-2328)aAg>aTg	p.K776M	PHF3_ENST00000393387.1_Missense_Mutation_p.K776M			Q92576	PHF3_HUMAN	PHD finger protein 3	776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGACAAAAAGACTGAAATA	0.378000													39	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587513	179587513	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179587513G>A	ENST00000589042.1	-	76	22337	c.22113C>T	c.(22111-22113)acC>acT	p.T7371T	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T7054T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T6127T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7054	Ig-like 55.						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)			TTGTAAAGTAGGTCCTGTATT	0.393000													21	35					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596487	124596487	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124596487C>T	ENST00000368904.1	-	7	1626	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CUZD1_ENST00000545804.1_Missense_Mutation_p.G226E|CUZD1_ENST00000392790.1_Missense_Mutation_p.G226E			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	226	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACAGACTTGTCCAATCAGGCC	0.473000													27	60					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933306	43933306	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43933306C>T	ENST00000262726.7	-	29	4252	c.3999G>A	c.(3997-3999)aaG>aaA	p.K1333K	EFCAB6_ENST00000396231.2_Silent_p.K1181K|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1333	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGTCCTTCTCCTTGCATTCTT	0.562000													77	161					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901388	160901388	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160901388G>A	ENST00000283243.7	-	2	596	c.390C>T	c.(388-390)gtC>gtT	p.V130V	PLA2R1_ENST00000392771.1_Silent_p.V130V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	130	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGCCACCTGGACAGAGTACT	0.488000													44	97					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100290	7100290	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7100290G>A	ENST00000399510.2	-	11	1850	c.998C>T	c.(997-999)tCc>tTc	p.S333F	DLG4_ENST00000399506.2_Missense_Mutation_p.S290F|DLG4_ENST00000302955.6_Missense_Mutation_p.S287F	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	290	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCGCCGAGGGGAAGTGGGGGT	0.617000													11	33					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313987	79313987	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:79313987G>A	ENST00000305089.3	-	3	214	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	45	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GTAGCAGTAGGAGCGATAGGC	0.512000													6	213					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71346900	71346900	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:71346900A>C	ENST00000392650.3	-	42	5788	c.5788T>G	c.(5788-5790)Tgg>Ggg	p.W1930G	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.W1911G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1930					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						AAGAACCACCACTCCTCATAG	0.557000													7	204					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845956	123845956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123845956C>T	ENST00000369005.1	+	4	4281	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1314L|TACC2_ENST00000334433.3_Missense_Mutation_p.P1314L|TACC2_ENST00000515273.1_Missense_Mutation_p.P1314L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1314L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1314						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTGGTAGTCCCAAAGCCAGA	0.607000													17	36					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433214	25433214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25433214G>A	ENST00000255324.5	+	26	3738	c.3686G>A	c.(3685-3687)tGg>tAg	p.W1229*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.W1229*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.W281*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1229	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTTATTTCTGGAAAAAAGGA	0.373000													10	40					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409641	153409641	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153409641C>T	ENST00000368725.2	-	3	231	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTTCTTATCCTTATTATCA	0.403000													12	162					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585288	172585288	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:172585288C>T	ENST00000534253.2	+	14	1487	c.1319C>T	c.(1318-1320)cCt>cTt	p.P440L	DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P440L|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P432L|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P440L|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P414L|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P414L|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P432L|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P434L|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P434L|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P414L|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P440L			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	440					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATGTCCTTCCCTGTTGGAGAT	0.403000													10	17					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030859	10030859	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10030859G>A	ENST00000378380.3	+	6	1971	c.1643_splice	c.e6+1	p.G548_splice	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Splice_Site_p.G548_splice|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TCTTGAAAAAGGGTACGCGTC	0.403000													19	45					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630570	140630570	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:140630570G>A	ENST00000520439.1	-	2	1119	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	KCNK9_ENST00000303015.1_Silent_p.S352S			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	352						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GAGAGATGGAGCTAATAGGCG	0.517000													54	125					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45807058	45807058	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:45807058G>A	ENST00000263736.4	-	7	1090	c.1028C>T	c.(1027-1029)cCa>cTa	p.P343L		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	343					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAGCTCCCCTGGTTTCTCAAG	0.418000													82	189					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745968	54745968	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54745968G>A	ENST00000440558.2	-	3	337	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	LILRA6_ENST00000396365.2_Missense_Mutation_p.R97C|LILRA6_ENST00000270464.5_Missense_Mutation_p.R97C|LILRA6_ENST00000245621.5_Missense_Mutation_p.R97C|LILRB3_ENST00000407860.2_Missense_Mutation_p.R97C|LILRA6_ENST00000391735.3_Missense_Mutation_p.R97C|LILRA6_ENST00000419410.2_Missense_Mutation_p.R97C					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGTGGCAGCGGTATCTCCCT	0.592000													110	130					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274712	198274712	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:198274712G>A	ENST00000335508.5	-	7	777	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	229	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATCTTAAGGAAGGAGTATG	0.408000			Mis		myelodysplastic syndrome								31	78					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545978	65545978	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65545978G>A	ENST00000532090.2	-	2	2196	c.1986C>T	c.(1984-1986)gcC>gcT	p.A662A		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	605							protein binding			lung(1)	1						GCCGTACCAGGGCCGGTGCCT	0.672000													3	11					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289127	107289127	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107289127G>A	ENST00000277216.3	-	1	363	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCACATAACGATCAAATGCC	0.443000													71	131					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393347	38393347	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38393347G>A	ENST00000390345.2	-	0	656																											ATAGACTCCAGAGTCATTTTC	0.463000													31	48					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3155622	3155622	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:3155622C>T	ENST00000381075.2	+	15	1483	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	PFKP_ENST00000381125.4_Missense_Mutation_p.A428V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	428					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATGAACGCAGCCGTACGCTCA	0.617000													17	32					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467734	74467734	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74467734G>A	ENST00000249842.3	+	2	892	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ISLR_ENST00000395118.1_Missense_Mutation_p.E179K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	179					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCAGATCAACGAGAACCCCTT	0.642000													29	54					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55604627	55604627	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:55604627C>T	ENST00000288135.5	+	21	2932	c.2835C>T	c.(2833-2835)aaC>aaT	p.N945N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	945					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGCCCCAACCGACAGAAGC	0.512000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				43	138					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812286	140812286	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140812286C>A	ENST00000252085.3	+	1	2102	c.1960C>A	c.(1960-1962)Ctc>Atc	p.L654I	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCCCTCTCTCCGCCAC	0.682000													14	176					1.45105e-14	1.4626e-14	1	1	0
GPR98	84059	broad.mit.edu	37	5	89940674	89940674	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89940674C>T	ENST00000405460.2	+	15	2982	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	962	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CCATTTACTCCCTTCCAGATG	0.313000													22	46					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197187	26197187	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26197187C>T	ENST00000377831.5	-	2	745	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E98K	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E98*(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGGTAGGCCTCGCAGGCCTCC	0.587000													9	246					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15766879	15766879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:15766879C>T	ENST00000375949.4	+	2	150	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	42	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGCTGGCCCTGGCAGGT	0.687000													14	23					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123539771	123539771	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:123539771G>A	ENST00000334268.4	-	40	2458	c.2141C>T	c.(2140-2142)cCa>cTa	p.P714L	TRDN_ENST00000398178.3_Missense_Mutation_p.P722L			Q13061	TRDN_HUMAN	triadin	722					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTCTGTCCTGGAGAATTTGC	0.433000													28	14					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294698	22294698	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:22294698G>A	ENST00000306482.1	-	2	662	c.144C>T	c.(142-144)gaC>gaT	p.D48D	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	48					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CGACGGCGCGGTCAAACAGGT	0.592000													20	106					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169672508	169672508	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169672508G>A	ENST00000236147.4	-	6	1039	c.879C>T	c.(877-879)agC>agT	p.S293S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	280	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CAGAGGTAAAGCTGAAGCTGG	0.413000													6	26					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64439291	64439291	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:64439291G>A	ENST00000282869.5	-	4	1942	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATTTGTAGGGAATTTCCCCA	0.368000													52	152					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315303	154315303	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154315303C>T	ENST00000368489.3	+	15	1418	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	459					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)			TCCTTCAATCCTCTGGCTGAC	0.547000													5	194					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130174474	130174474	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130174474G>A	ENST00000265379.6	+	37	7248	c.6754G>A	c.(6754-6756)Gat>Aat	p.D2252N	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2252N			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2252	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTATGAAAAAGATCAAAAATC	0.333000													4	50					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38206039	38206039	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38206039C>T	ENST00000323205.6	+	2	343	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	GCAT_ENST00000248924.6_Missense_Mutation_p.L68F|GCAT_ENST00000415371.1_Intron	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	68					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L68F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTCAGGAATCCTTAACTTCTG	0.592000													13	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416423	179416423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179416423C>T	ENST00000589042.1	-	335	91428	c.91204G>A	c.(91204-91206)Gaa>Aaa	p.E30402K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21462K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28761K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27834K|TTN_ENST00000460472.2_Missense_Mutation_p.E21337K|TTN_ENST00000342175.6_Missense_Mutation_p.E21529K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28761	Ig-like 137.						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)			GCAGAATTTTCAGCATATACA	0.393000													32	75					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120283010	120283010	+	Splice_Site	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120283010T>G	ENST00000369407.3	+	8	2352	c.843_splice	c.e8-1	p.V282_splice	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Splice_Site_p.V316_splice			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	316					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTCTGCAGGTGAATGCCCAG	0.587000													18	44					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889915	55889915	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55889915G>A	ENST00000313472.3	+	1	67	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGACTCTGAAGAGGTCCAGAT	0.453000													5	241					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115286	158115286	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:158115286C>T	ENST00000259056.4	+	1	1177	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	231					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGCAGCGATCACAGGCAGTA	0.498000													28	57					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52384829	52384829	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52384829C>T	ENST00000356297.4	-	8	830	c.730G>A	c.(730-732)Gag>Aag	p.E244K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E244K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	244	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GATGGTACCTCCACATCCTGC	0.433000													51	103					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815582	82815582	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:82815582C>T	ENST00000265077.3	+	7	2022	c.1457C>T	c.(1456-1458)tCg>tTg	p.S486L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S438L|VCAN_ENST00000342785.4_Missense_Mutation_p.S486L|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	486	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACAAGAATCGGTTACACAG	0.408000													54	109					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14537990	14537990	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14537990C>T	ENST00000273083.3	-	0	2822							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTCGTACCTCCCGGCCCCTC	0.642000													11	23					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096776	53096776	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53096776G>A	ENST00000341809.3	-	1	471	c.443C>T	c.(442-444)cCa>cTa	p.P148L	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	148	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTGAAGTGGCTCTAGGAG	0.517000													56	120					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20529580	20529580	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:20529580G>A	ENST00000399722.2	+	4	503		c.e4-1		RBBP8_ENST00000327155.5_Splice_Site|RBBP8_ENST00000399725.2_Splice_Site|RBBP8_ENST00000360790.5_Splice_Site	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8						cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTGACCTTTAGAGATGCACAA	0.323000								Homologous recombination					7	172					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227551	11227551	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11227551C>T	ENST00000558518.1	+	12	1909	c.1722C>T	c.(1720-1722)cgC>cgT	p.R574R	LDLR_ENST00000535915.1_Silent_p.R533R|LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000557933.1_Silent_p.R574R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	574					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCAGTGGCCGCCTCTACTGGG	0.587000													14	347					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3273452	3273452	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:3273452C>T	ENST00000436008.2	-	11	2384	c.1922G>A	c.(1921-1923)gGg>gAg	p.G641E	SLC22A23_ENST00000490273.1_Missense_Mutation_p.G352E|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G633E|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G352E			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	633					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GTAGTGCTCCCCGTTAGAAAT	0.607000													59	262					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704245	46704245	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46704245G>A	ENST00000454366.1	+	4	379	c.167G>A	c.(166-168)gGa>gAa	p.G56E		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	37					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTCTTCTTCGGACCCTTTGGA	0.388000													78	182					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228576	21228576	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21228576G>A	ENST00000233242.1	-	26	11291	c.11164C>T	c.(11164-11166)Cct>Tct	p.P3722S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3722					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTTTTACAGGGATGGAGAAT	0.408000													66	142					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88477792	88477792	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:88477792C>T	ENST00000429277.2	+	11	1908	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	LDB3_ENST00000458213.2_Missense_Mutation_p.S473F|LDB3_ENST00000263066.6_Missense_Mutation_p.S473F|LDB3_ENST00000361373.4_Missense_Mutation_p.S583F|LDB3_ENST00000352360.5_Missense_Mutation_p.S326F	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	583	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGCAAGACTTCCCTGGCAGAT	0.527000													6	141					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618736	141618736	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141618736G>A	ENST00000548136.1	+	1	120	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGCTCTGAAGAACTACATCA	0.378000													119	345					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50307074	50307074	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50307074A>T	ENST00000330817.5	-	3	527	c.254T>A	c.(253-255)cTt>cAt	p.L85H		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	85					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TAACAGCGAAAGCACGTAAAC	0.557000													36	104					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315651	25315651	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25315651C>T	ENST00000549804.2	+	0	678				SNORD116-8_ENST00000384365.1_RNA|SNHG14_ENST00000551077.1_RNA																							CTCATACCGTCGTTCTCATCG	0.488000													65	114					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117565	20117565	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20117565C>T	ENST00000397165.2	-	4	906	c.746G>A	c.(745-747)aGa>aAa	p.R249K	ZNF682_ENST00000397162.1_Missense_Mutation_p.R217K|ZNF682_ENST00000358523.5_Missense_Mutation_p.R217K|ZNF682_ENST00000597972.1_Missense_Mutation_p.R255K|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.R173K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGTATGGATTCTCTTATGTTT	0.373000													10	98					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358307	66358307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66358307G>A	ENST00000333861.3	-	1	2247	c.2180C>T	c.(2179-2181)cCc>cTc	p.P727L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	727										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGCTGAATGGGCTTCAGGGC	0.547000													90	217					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382581	152382581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152382581C>T	ENST00000271835.3	-	3	1039	c.977G>A	c.(976-978)aGa>aAa	p.R326K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	326	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGTCCCTCTGTTCTGGCC	0.607000													8	474					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61453109	61453109	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61453109G>A	ENST00000343916.3	+	8	373	c.369_splice	c.e8-1	p.G124_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	124	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTCCCTCCAGGGAGAGGCAGG	0.692000													16	14					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817061	69817061	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69817061C>T	ENST00000251566.4	-	1	448	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	140						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGTTGGTTTCCTGTAGCTTC	0.368000													37	67					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816952	1816952	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1816952C>T	ENST00000250894.4	+	25	3222	c.3065C>T	c.(3064-3066)gCc>gTc	p.A1022V	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A1016V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1022					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|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						GGGACCCTGGCCATCTTCCAC	0.657000													7	147					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24560519	24560519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24560519C>T	ENST00000398319.2	+	30	5283	c.4898C>T	c.(4897-4899)cCa>cTa	p.P1633L	CABIN1_ENST00000337989.7_Missense_Mutation_p.P58L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1633L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1554L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1633					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCGGACCCCAGACCAGGGC	0.647000													21	40					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47163183	47163183	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:47163183A>T	ENST00000447411.1	-	14	1534	c.1328T>A	c.(1327-1329)tTt>tAt	p.F443Y	SLC38A4_ENST00000266579.4_Missense_Mutation_p.F443Y	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	443					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCGTTTGGGAAATAACAGTGT	0.353000													48	90					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639899	207639899	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207639899C>T	ENST00000367057.3	+	2	276	c.87C>T	c.(85-87)atC>atT	p.I29I	CR2_ENST00000367058.3_Silent_p.I29I|CR2_ENST00000458541.2_Silent_p.I29I|CR2_ENST00000367059.3_Silent_p.I29I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	29	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTCCGCCTATCCTAAATGGCC	0.413000													125	161					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641388	2641388	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2641388G>A	ENST00000380843.4	-	6	516	c.486C>T	c.(484-486)atC>atT	p.I162I	IDH3B_ENST00000380851.5_Silent_p.I162I|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	162					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	GCTCTCGAATGATCACCAGGT	0.532000													45	78					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360803	107360803	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107360803G>A	ENST00000374779.2	-	1	985	c.892C>T	c.(892-894)Ctt>Ttt	p.L298F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTGTTTCTAAGACTGTAGATT	0.338000													43	68					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140616	50140616	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50140616G>A	ENST00000371564.3	-	2	383	c.164C>T	c.(163-165)cCc>cTc	p.P55L	NFATC2_ENST00000396009.3_Missense_Mutation_p.P55L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P35L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	55					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGTCCGGAGGGTGGGCTGGC	0.582000													31	78					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18079652	18079652	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:18079652C>T	ENST00000539092.1	+	5	787	c.96C>T	c.(94-96)atC>atT	p.I32I	NAT1_ENST00000545197.1_Silent_p.I94I|NAT1_ENST00000535084.1_Silent_p.I32I|NAT1_ENST00000517492.1_Silent_p.I32I|NAT1_ENST00000520546.1_Silent_p.I32I|NAT1_ENST00000541942.1_Silent_p.I32I|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Silent_p.I32I|NAT1_ENST00000518029.1_Silent_p.I32I	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	32					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AACACCAGATCCGAGCTGTTC	0.418000													17	152					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032019	10032019	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:10032019G>A	ENST00000396573.2	-	4	1113	c.804C>T	c.(802-804)atC>atT	p.I268I	GRIN2A_ENST00000330684.3_Silent_p.I268I|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Silent_p.I268I|GRIN2A_ENST00000535259.1_Silent_p.I111I|GRIN2A_ENST00000404927.2_Silent_p.I268I|GRIN2A_ENST00000396575.2_Silent_p.I268I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	268					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTCTTTTGGGATGAGCTCCG	0.557000													41	71					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162475131	162475131	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:162475131T>A	ENST00000366898.1	-	5	712	c.610A>T	c.(610-612)Act>Tct	p.T204S	PARK2_ENST00000366892.1_Missense_Mutation_p.T204S|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Missense_Mutation_p.T13S|PARK2_ENST00000366894.1_Missense_Mutation_p.T13S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	204	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ACTGCACTAGTCCCAGGGCAG	0.418000													26	70					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517122	158517122	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158517122G>A	ENST00000302617.3	-	1	773	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAAGTGTCATGGAATAGAAGA	0.498000													41	180					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061992	66061992	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66061992G>A	ENST00000327259.4	+	2	419	c.275G>A	c.(274-276)aGc>aAc	p.S92N		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	92						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						TACCCGGCCAGCCCCTGCTCC	0.721000													23	38					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230659	147230659	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:147230659C>T	ENST00000271348.2	-	2	849	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	GJA5_ENST00000369237.1_Missense_Mutation_p.G230S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	230					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTCTTCCAGCCCAGGTGGTAG	0.552000													8	94					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773316	140773316	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140773316T>C	ENST00000398604.2	+	1	936	c.936T>C	c.(934-936)tgT>tgC	p.C312C	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAATGTTCATTTTATG	0.363000													95	160					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484700	484700	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:484700G>A	ENST00000264938.3	-	5	876	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SLC9A3_ENST00000514375.1_Silent_p.F289F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	289						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGATGAACACGAAGCCGGGCT	0.632000													28	64					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122254012	122254012	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:122254012C>T	ENST00000394427.2	-	4	1172	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	254				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity	p.R254Q(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATGAATAGTTCGAAGCACTGA	0.353000													17	42					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330148	34330148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34330148C>T	ENST00000522796.1	+	4	2261	c.356C>T	c.(355-357)tCg>tTg	p.S119L	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.S119L			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	119						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGAACTGGTCGGTGGTGCAG	0.567000													55	81					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206323	160206323	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160206323G>T	ENST00000392783.2	-	28	5254	c.4759C>A	c.(4759-4761)Cag>Aag	p.Q1587K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q1551K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q1553K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q1487K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGCTGAGACTGAGGAGTCACC	0.448000													42	77					1.59932e-28	1.61773e-28	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432246	117432246	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117432246G>A	ENST00000160373.3	-	4	1095	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	335										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAAACTAGGGGACTCCCTGT	0.502000													84	201					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117849293	117849293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:117849293C>T	ENST00000439649.3	-	8	1508	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	GFRA1_ENST00000544592.1_Missense_Mutation_p.E265K|GFRA1_ENST00000369236.1_Missense_Mutation_p.E381K|GFRA1_ENST00000355422.6_Missense_Mutation_p.E386K	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	386					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGGAATTTCATTCTCAGAC	0.577000													72	137					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786651	121786651	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:121786651C>T	ENST00000261367.7	+	12	3678	c.2250C>T	c.(2248-2250)ccC>ccT	p.P750P	CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.P337P|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.P305P|SNCAIP_ENST00000542191.1_Silent_p.P261P|SNCAIP_ENST00000261368.8_Silent_p.P703P|SNCAIP_ENST00000379536.2_Silent_p.P643P|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.P750P			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	703					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)		GGCCGCAGCCCATTGTAGAAA	0.537000													27	66					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133964	33133964	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33133964C>T	ENST00000341947.2	-	61	4639	c.4412G>A	c.(4411-4413)gGa>gAa	p.G1471E	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1364E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1445E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1390E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1424E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1411E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1450E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1385E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1471	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCTTTGGCTCCTTTGGGGCC	0.577000													6	20					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345032	43345032	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:43345032C>T	ENST00000378852.3	+	6	721	c.596C>T	c.(595-597)tCt>tTt	p.S199F	API5_ENST00000534600.1_Missense_Mutation_p.S199F|API5_ENST00000531273.1_Missense_Mutation_p.S199F|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.S188F|API5_ENST00000420461.2_Missense_Mutation_p.S145F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	199					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAGATACTGTCTGGGTTAAAA	0.418000													34	71					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499214	59499214	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59499214G>A	ENST00000307144.4	+	1	173	c.75G>A	c.(73-75)ggG>ggA	p.G25G	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	25					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TATGCCTGGGGATGGCCCTGT	0.592000													14	43					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168319457	168319457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:168319457G>A	ENST00000366806.2	+	20	2873	c.2731G>A	c.(2731-2733)Gat>Aat	p.D911N	MLLT4_ENST00000344191.4_Missense_Mutation_p.D911N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D895N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D911N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D918N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D911N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D910N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	911					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAACACTGCCGATGAGCTGGC	0.463000			T	MLL	AL								23	53					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704244	46704244	+	Missense_Mutation	SNP	G	G	A	rs141526579		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46704244G>A	ENST00000454366.1	+	4	378	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	37					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGTCTTCTTCGGACCCTTTGG	0.388000													78	179					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020436	151020436	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151020436T>A	ENST00000368926.5	+	1	221	c.113T>A	c.(112-114)tTa>tAa	p.L38*		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	38						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGTCAGTTTACGCTTTGGG	0.657000													28	52					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759220	54759220	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54759220C>T	ENST00000450632.1	-	5	931	c.854G>A	c.(853-855)aGa>aAa	p.R285K	LILRB5_ENST00000345866.6_Missense_Mutation_p.R194K|LILRB5_ENST00000316219.5_Missense_Mutation_p.R294K|LILRB5_ENST00000449561.2_Missense_Mutation_p.R294K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	294	Ig-like C2-type 3.				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)		ACCGTAGCATCTGTACTGGCC	0.677000													39	67					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189304	29189304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:29189304G>A	ENST00000234961.2	+	3	870	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	210					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTGGTACTGGGACACGGTGAC	0.627000													29	57					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959762	38959762	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38959762G>A	ENST00000355481.4	+	26	3669	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1180K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1180K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1180	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	AGCCTTCCGGGAGATTGAGAT	0.542000													24	65					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683544	4683544	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4683544G>A	ENST00000262960.9	-	19	2553	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.S730F|DPP9_ENST00000594671.1_Missense_Mutation_p.S730F|DPP9_ENST00000601173.1_5'UTR	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	730					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCCCCGTAGGACCAGCCATG	0.657000													5	87					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557279	56557279	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56557279C>T	ENST00000323777.3	-	2	1009	c.900G>A	c.(898-900)caG>caA	p.Q300Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	300						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGCGAGTACTGTGCTGAGG	0.398000													20	253					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145749	123145749	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123145749C>T	ENST00000264501.4	+	23	3083	c.2710C>T	c.(2710-2712)Cct>Tct	p.P904S	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P904S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P904S			Q2LD37	K1109_HUMAN	KIAA1109	904					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAAGGTCTTCCTTTGGGAAG	0.488000													20	45					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598666	28598666	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28598666G>A	ENST00000434452.1	-	8	1197	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	DSC3_ENST00000360428.4_Missense_Mutation_p.S348L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	348	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTATCATTTGAATCTGTTAC	0.318000													30	85					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277448	44277448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:44277448C>T	ENST00000216177.4	-	8	1321	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	PNPLA5_ENST00000593866.1_Missense_Mutation_p.G283R|PNPLA5_ENST00000381198.2_Missense_Mutation_p.G283R|PNPLA5_ENST00000597664.1_Missense_Mutation_p.G397R	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	397					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGATGGGCCCAAGGAGCTGG	0.677000													8	15					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641813	106641813	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106641813C>T	ENST00000390605.2	-	0	159																											CACTGAGGCCCCAGGCTTCTT	0.582000													78	161					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558055	159558055	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159558055G>A	ENST00000255040.2	+	2	326	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	77	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAAGGCAGGGATAATGAGCT	0.433000													78	93					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944656	28944656	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28944656G>A	ENST00000538922.1	+	4	723	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	CD19_ENST00000324662.3_Missense_Mutation_p.G221R|CD19_ENST00000567541.1_Missense_Mutation_p.G221R	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	221	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCACCCCAAGGGGCCTAAGTC	0.632000													37	54					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79356805	79356805	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:79356805C>T	ENST00000419573.3	-	2	614	c.340G>A	c.(340-342)Gca>Aca	p.A114T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A114T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	114	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A114S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAATCTTTTGCGTCCTCTGTC	0.512000													8	219					0	0	1	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293178	119293178	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:119293178G>A	ENST00000371388.3	+	2	527	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	113						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GAGCGAGAAGGAACCTGGGCA	0.682000													24	28					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363655	46363655	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46363655C>T	ENST00000291634.6	+	2	234	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FAM207A_ENST00000397826.3_Silent_p.A62A	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	62																	ACCCCAGCGCCTTGGTGCAGA	0.562000													37	63					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685172	248685172	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248685172C>T	ENST00000343414.4	+	1	257	c.225C>T	c.(223-225)acC>acT	p.T75T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTACCACCAGTGTTGCCC	0.512000													5	128					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76462738	76462738	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76462738G>A	ENST00000389840.5	-	56	9021	c.8898_splice	c.e56+1	p.P2966_splice	DNAH17_ENST00000585328.1_Splice_Site_p.P2975_splice|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGACTCACCGGAATCCCCTC	0.637000													20	56					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481480	159481480	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:159481480C>T	ENST00000389757.3	+	7	819	c.694C>T	c.(694-696)Cct>Tct	p.P232S	PKP4_ENST00000389759.3_Missense_Mutation_p.P232S	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	232					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGGCGTGTCTCCTTCAAGGGG	0.522000										HNSCC(62;0.18)			50	115					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255152	30255152	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:30255152C>T	ENST00000417547.1	+	3	234	c.195C>T	c.(193-195)atC>atT	p.I65I	FSHB_ENST00000533718.1_Silent_p.I65I|FSHB_ENST00000254122.3_Silent_p.I65I	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	65					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GGCCCAAAATCCAGAAAACAT	0.458000													21	73					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299400	58299400	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:58299400G>A	ENST00000377918.3	+	4	3478	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1151					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGCCGGGGAAACGACCCT	0.448000													88	167					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171295671	171295671	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:171295671G>A	ENST00000296933.6	-	12	1928	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	FBXW11_ENST00000393802.2_Missense_Mutation_p.P499S|FBXW11_ENST00000265094.5_Missense_Mutation_p.P533S|FBXW11_ENST00000425623.2_Missense_Mutation_p.P501S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	533					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTCTGGAGGGAGAACGGGTC	0.438000													41	91					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048896	143048896	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143048896C>T	ENST00000343257.2	+	23	2892	c.2805C>T	c.(2803-2805)tcC>tcT	p.S935S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	935					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CATCTCCTTCCCCAGAGCCCC	0.642000													33	91					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48746878	48746878	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:48746878G>A	ENST00000314191.2	-	60	8084	c.8028C>T	c.(8026-8028)tcC>tcT	p.S2676S	PRKDC_ENST00000338368.3_Silent_p.S2676S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2677	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAAACAGCAAGGAGTCAGATG	0.542000								Non-homologous end-joining					110	173					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402361	248402361	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248402361C>T	ENST00000306687.1	+	1	131	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GAAAATATTTCCATGGTTCTC	0.478000													72	187					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74803713	74803713	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74803713G>A	ENST00000290536.5	-	6	918	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L268F|M1AP_ENST00000409585.1_Missense_Mutation_p.L268F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GATGGGCAGAGCAGTCGCTCT	0.468000													18	39					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148266	93148266	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:93148266G>A	ENST00000298050.3	+	13	1724	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	CCDC67_ENST00000525646.1_Missense_Mutation_p.D284N	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	542										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)				TAGTGATGATGATGTATTCCC	0.403000													37	32					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56872844	56872844	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56872844C>T	ENST00000311966.4	-	4	804	c.526G>A	c.(526-528)Gga>Aga	p.G176R	GLS2_ENST00000539272.1_Intron	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	176					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTTGCCTCCAGTGAGCTCT	0.483000													6	206					0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88082524	88082524	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:88082524G>A	ENST00000398146.3	-	20	4241	c.4019C>T	c.(4018-4020)tCc>tTc	p.S1340F	RGPD2_ENST00000420840.2_Missense_Mutation_p.S1332F|RGPD2_ENST00000327544.6_Missense_Mutation_p.S597F			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	1332	RanBD1 2.				intracellular transport		binding			breast(1)|pancreas(1)	2						CTCACCACTGGATACTTCAAC	0.393000													107	192					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774727	231774727	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:231774727G>A	ENST00000392040.1	-	2	1143	c.951C>T	c.(949-951)tcC>tcT	p.S317S	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.S317S	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	317					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GTTAGCCCCGGGAGATCGTGG	0.537000													47	90					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57111225	57111225	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57111225T>A	ENST00000262510.6	+	41	5078	c.4853T>A	c.(4852-4854)aTt>aAt	p.I1618N	NLRC5_ENST00000539144.1_Missense_Mutation_p.I1589N|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.I1589N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1618					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACAACCAGATTGGAGACGCT	0.567000													31	19					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153419	5153419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5153419G>A	ENST00000307388.1	-	1	453	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAGCCCTGAGTGTCACCCCA	0.473000													8	45					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172223	78172223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:78172223C>T	ENST00000369947.2	-	1	1267	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TTCTTCTTTTCCAGCAGGGCG	0.532000													16	315					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98563452	98563452	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98563452C>T	ENST00000359863.4	+	48	7298	c.7089C>T	c.(7087-7089)atC>atT	p.I2363I	TRRAP_ENST00000355540.3_Silent_p.I2345I|TRRAP_ENST00000446306.3_Silent_p.I2345I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2363	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGCCAAAATCCTCCGGGCTG	0.527000													23	100					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397739	111397739	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:111397739C>T	ENST00000265162.5	+	1	511	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	57					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGCGCCAGCTCCTTCCCACCT	0.642000													53	120					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30699099	30699099	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:30699099T>G	ENST00000399921.1	+	3	1197	c.954T>G	c.(952-954)caT>caG	p.H318Q	BACH1_ENST00000286800.3_Missense_Mutation_p.H318Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	318						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TAGACCCTCATGGACTTTATT	0.398000													7	261					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420608	49420608	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49420608G>A	ENST00000301067.7	-	48	15140	c.15141C>T	c.(15139-15141)gcC>gcT	p.A5047A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAGCAGACGGGCAGGCCCAT	0.617000													40	92					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974453	39974453	+	Silent	SNP	C	C	T	rs113640022	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39974453C>T	ENST00000321562.4	+	3	608	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	168					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCCACTGCCCCCGCATGGTCC	0.632000													41	85					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049313	175049313	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175049313G>A	ENST00000239462.4	+	4	912	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	267	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACCCCACAGGGCCTGCAGCT	0.597000													40	98					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618763	20618763	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:20618763G>A	ENST00000504154.1	+	35	4330	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E1373K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1352K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1356K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1360	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAGTGCCAGGAAGGATGGAT	0.572000													32	49					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52032988	52032988	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52032988G>A	ENST00000346477.3	-	4	1022	c.954C>T	c.(952-954)ctC>ctT	p.L318L	SIGLEC6_ENST00000425629.3_Silent_p.L334L|SIGLEC6_ENST00000391797.3_Silent_p.L323L|SIGLEC6_ENST00000359982.4_Silent_p.L345L|SIGLEC6_ENST00000343300.4_Silent_p.L334L|SIGLEC6_ENST00000436458.1_Silent_p.L282L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	334	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AATGCACAAAGAGACTCAGAG	0.582000													12	44					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336207	12336207	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12336207T>C	ENST00000358136.3	+	19	2692	c.2562T>C	c.(2560-2562)gtT>gtC	p.V854V	VPS13D_ENST00000356315.4_Silent_p.V854V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	854					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTTCAACGTTCACCTACAGT	0.438000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	53					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726805	8726805	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8726805G>A	ENST00000311434.9	-	14	1764	c.1525C>T	c.(1525-1527)Ctg>Ttg	p.L509L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	509					platelet activation	cytosol											GATGTGTCCAGGGAAGGAGGC	0.527000													13	20					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860123	5860123	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:5860123C>T	ENST00000327087.8	-	11	1128	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ANO2_ENST00000546188.1_Missense_Mutation_p.E354K|ANO2_ENST00000356134.5_Missense_Mutation_p.E354K			Q9NQ90	ANO2_HUMAN	anoctamin 2	358						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAATTTTTTCTCCAAAATAC	0.343000													7	14					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36379500	36379500	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36379500T>G	ENST00000373204.4	+	13	1853	c.1640T>G	c.(1639-1641)gTg>gGg	p.V547G	AGO1_ENST00000373206.1_Missense_Mutation_p.V472G	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TGTGTGCAGGTGAAGAACGTG	0.478000													16	125					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551510	39551510	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39551510G>A	ENST00000251645.2	-	5	915	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	288	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTTGTGCTGGGCCTGCAGCTC	0.592000													49	136					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40936446	40936446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40936446C>T	ENST00000246914.5	+	4	1040	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	340	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACAGGGACCCCGGAATTCATG	0.612000													16	25					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45644851	45644851	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:45644851C>T	ENST00000327619.5	+	5	704	c.330C>T	c.(328-330)tcC>tcT	p.S110S	EYA2_ENST00000357410.3_Silent_p.S110S|EYA2_ENST00000317304.6_Silent_p.S110S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	110					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGAACCATTCCCCTGGCCAGA	0.532000													43	121					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104515970	104515970	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104515970G>A	ENST00000409874.4	+	35	4048	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	TDRD9_ENST00000339063.5_Missense_Mutation_p.E1143K	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1334					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAAACCAAGGGAGAAGATTGT	0.398000													6	14					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331034	206331034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:206331034G>A	ENST00000361052.3	+	9	1173	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	CTSE_ENST00000432969.2_Missense_Mutation_p.E225K|CTSE_ENST00000358184.2_Missense_Mutation_p.G347E|CTSE_ENST00000360218.2_Missense_Mutation_p.E300K			P14091	CATE_HUMAN	cathepsin E	352					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTCGTGGATGGAATGCAGTTC	0.542000													102	311					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967720	46967720	+	Splice_Site	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:46967720T>C	ENST00000374323.3	-	3	1103	c.514_splice	c.e3-1	p.G172_splice	SYT15_ENST00000374325.3_Splice_Site_p.G119_splice|SYT15_ENST00000374321.4_Splice_Site_p.G119_splice|SYT15_ENST00000503753.1_Splice_Site_p.G119_splice			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	119	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TACATGCATCTCCTATGACAG	0.632000													45	312					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088196	9088196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9088196G>A	ENST00000397910.4	-	1	3822	c.3619C>T	c.(3619-3621)Cca>Tca	p.P1207S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1207	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						CCACTTGTTGGAATATTACTT	0.493000													12	237					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072532	53072532	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53072532G>A	ENST00000252244.3	-	2	658	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	200	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GCTGCTCCAGGAACCTCACCT	0.458000													21	41					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63822378	63822378	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:63822378C>T	ENST00000317442.8	-	1	283	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	CEP112_ENST00000580482.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000392769.2_Intron|CEP112_ENST00000541355.1_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	745						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTTGGTTTTCCTTGGCAGAT	0.493000													118	323					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6059003	6059003	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6059003G>A	ENST00000261405.5	-	51	8456	c.8202C>T	c.(8200-8202)gtC>gtT	p.V2734V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2734	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTCCCACCTTGACATACTGCA	0.542000													13	121					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400113	103400113	+	Splice_Site	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103400113C>G	ENST00000358392.2	-	46	3846		c.e46-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATCACCTCCCTAGAGAAGAG	0.428000													30	58					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228141158	228141158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228141158G>A	ENST00000396578.3	+	27	2147	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	662	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGACCTCCAGGGCCCCCTGGC	0.532000													22	47					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54554671	54554671	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54554671C>T	ENST00000338372.2	-	4	562	c.387G>A	c.(385-387)atG>atA	p.M129I	VSTM1_ENST00000425006.2_Missense_Mutation_p.M129I|VSTM1_ENST00000376626.1_Missense_Mutation_p.M129I|VSTM1_ENST00000366170.2_Missense_Mutation_p.M41I	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	129						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TACCTGTTTTCATTGAGGGAG	0.378000													14	31					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926447	50926447	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50926447G>A	ENST00000395732.3	+	4	332	c.310G>A	c.(310-312)Gag>Aag	p.E104K	MIOX_ENST00000216075.6_Missense_Mutation_p.E104K|MIOX_ENST00000395733.3_Missense_Mutation_p.E104K			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	104					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGACAGCGGAGGGCATCCG	0.632000													10	98					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398711	68398711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:68398711C>T	ENST00000219334.5	-	5	2101	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	SMPD3_ENST00000568373.1_Missense_Mutation_p.E500K|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.E500K	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	500					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCCACCAGCTCCTCGGGGTTG	0.597000													41	19					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717167	13717167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:13717167C>T	ENST00000279593.3	-	13	3214	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1002					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	GTCGTAGAGCCCATCGATGGA	0.592000													20	75					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581483	30581483	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30581483G>A	ENST00000223459.6	-	3	1689	c.585C>T	c.(583-585)ccC>ccT	p.P195P	ZNF688_ENST00000395219.1_Silent_p.P181P	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCAGCAGTGAGGGGTAGGTGA	0.687000													20	43					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960207	200960207	+	Missense_Mutation	SNP	G	G	A	rs138915096	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:200960207G>A	ENST00000332129.2	-	18	2841	c.2525C>T	c.(2524-2526)cCc>cTc	p.P842L	KIF21B_ENST00000461742.2_Missense_Mutation_p.P842L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P842L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P842L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	842					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCCAGCATGGGTGGCTTTAG	0.647000													49	143					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000													63	110					0	0	1	0	0
NME1	4830	broad.mit.edu	37	17	49237341	49237341	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:49237341G>A	ENST00000511355.1	+	3	213	c.126_splice	c.e3-1	p.A43_splice	NME1_ENST00000336097.3_Splice_Site_p.A68_splice|NME1_ENST00000013034.3_Splice_Site_p.A68_splice|NME2_ENST00000555572.1_Splice_Site_p.A68_splice|NME1_ENST00000480143.1_Splice_Site_p.A68_splice|NME2_ENST00000393193.2_Splice_Site_p.A43_splice|NME1_ENST00000393196.3_Splice_Site_p.A43_splice|NME2_ENST00000376392.6_Splice_Site_p.A43_splice					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGTTGAATAGGCTTCCGAAGA	0.463000													8	159					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634635	179634635	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179634635G>A	ENST00000589042.1	-	37	8897	c.8673C>T	c.(8671-8673)atC>atT	p.I2891I	TTN_ENST00000359218.5_Silent_p.I2845I|TTN_ENST00000591111.1_Silent_p.I2891I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I2891I|TTN_ENST00000460472.2_Silent_p.I2845I|TTN_ENST00000342175.6_Silent_p.I2845I|TTN_ENST00000360870.5_Silent_p.I2891I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2629	Ig-like 16.						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)			CAGGCACCTCGATATTTTTCA	0.373000													48	102					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841753	129841753	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:129841753G>A	ENST00000397622.2	-	5	632	c.510C>T	c.(508-510)tcC>tcT	p.S170S	TMEM209_ENST00000336804.8_Silent_p.S169S|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Silent_p.S170S|TMEM209_ENST00000462753.1_Silent_p.S169S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	170	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TGCCACCTGAGGACAGACCTT	0.488000													24	46					0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97362044	97362044	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97362044C>A	ENST00000319273.5	+	2	417	c.120C>A	c.(118-120)atC>atA	p.I40I	TAC1_ENST00000350485.4_Silent_p.I40I|TAC1_ENST00000346867.4_Silent_p.I40I	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	40					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GCGACCAGATCAAGGTGAGGC	0.557000													37	136					3.78316e-11	3.80773e-11	1	1	0
ANKRD1	27063	broad.mit.edu	37	10	92677503	92677503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:92677503C>T	ENST00000371697.3	-	5	786	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	180					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.E180K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCACGGAATTCGATCTGGGCT	0.418000													24	62					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43241027	43241027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43241027C>T	ENST00000372525.5	+	5	605	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	188										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTGCCTCCGTGCACTGA	0.532000													20	36					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696361	69696361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69696361C>T	ENST00000265403.7	+	6	1378	c.1351C>T	c.(1351-1353)Caa>Taa	p.Q451*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.Q367*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	451					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCAACATGATCAACCAGTGAA	0.393000													59	140					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496976	216496976	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:216496976G>A	ENST00000366943.2	-	8	1776	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	USH2A_ENST00000307340.3_Missense_Mutation_p.R464C|USH2A_ENST00000366942.3_Missense_Mutation_p.R464C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCCAGGACGATAATTTGGT	0.373000										HNSCC(13;0.011)			6	191					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940226	68940226	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:68940226G>A	ENST00000433211.1	-	7	1070	c.896C>T	c.(895-897)tCa>tTa	p.S299L	CTNNA3_ENST00000545309.1_Missense_Mutation_p.S299L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S299L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	299					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						TTTCTCTAGTGATGGTCGTAT	0.458000													26	57					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16591433	16591433	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16591433C>T	ENST00000269881.3	-	8	1065	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	335	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ACCTTGGTTTCGCCCCAGGTG	0.393000													19	37					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105658335	105658335	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:105658335C>T	ENST00000542731.1	+	12	1578	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Silent_p.L490L|CDHR3_ENST00000478080.1_Silent_p.L402L|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATAAAGACCTCCCCCAGAGCA	0.517000													6	22					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098790	21098790	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:21098790G>A	ENST00000377122.4	-	25	2952	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	852	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle	p.F852F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATCAAGGTCGAAGATGGAGC	0.388000													26	64					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662585	49662585	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49662585G>A	ENST00000296452.4	+	2	516	c.402G>A	c.(400-402)agG>agA	p.R134R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	134					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)		TAGACAGCAGGACACAGAGAT	0.657000													18	64					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73565333	73565333	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73565333C>T	ENST00000392550.3	+	14	1625	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L	LLGL2_ENST00000167462.5_Missense_Mutation_p.P503L|LLGL2_ENST00000577200.1_Missense_Mutation_p.P503L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	503					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGATGACCCCCGGCTGGGC	0.672000													53	177					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75970410	75970410	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75970410A>T	ENST00000274364.6	+	27	3700	c.3403A>T	c.(3403-3405)Agg>Tgg	p.R1135W	IQGAP2_ENST00000502745.1_Missense_Mutation_p.R631W|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R631W|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R637W	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1135	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTCTGACCAAAGGAGAAACTT	0.433000													11	86					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113357409	113357409	+	Missense_Mutation	SNP	C	C	T	rs34354934	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113357409C>T	ENST00000445409.2	+	6	1413	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	OAS1_ENST00000551241.1_Intron|OAS1_ENST00000202917.5_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_001032409.1	NP_001027581.1	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ggaccagttccttcattttca	0.542000													13	36					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99941221	99941221	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:99941221G>A	ENST00000524871.1	+	11	1518	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	CNTN5_ENST00000528682.1_Missense_Mutation_p.E410K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E410K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E410K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E336K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	410	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCGATGGGAATGTAAGGC	0.468000													12	11					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17374610	17374610	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:17374610C>T	ENST00000242057.4	+	8	1651	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	336	PAS 2.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTGCCGAGTCCCATATCCGAA	0.378000													7	105					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256925	24256925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:24256925C>T	ENST00000538205.1	+	11	1259	c.712C>T	c.(712-714)Cga>Tga	p.R238*	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R317*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R238*	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	317	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTCAACAATCGACGTGTGGG	0.393000													13	105					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673832	120673832	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:120673832G>A	ENST00000273666.6	+	3	506	c.235G>A	c.(235-237)Gat>Aat	p.D79N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D79N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	79					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)		ATTAGCCTTTGATCCAGTTCA	0.383000													21	40					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385519	111385519	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:111385519G>A	ENST00000529167.1	+	1	10	c.10G>A	c.(10-12)Gga>Aga	p.G4R	C11orf88_ENST00000375618.4_Missense_Mutation_p.G4R|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.G4R			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	4										endometrium(1)|large_intestine(3)|lung(2)	6						CATGGAAACGGGACCCAGCGA	0.632000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	33					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179368610	179368610	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179368610C>T	ENST00000234453.4	+	8	1301	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	300						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TCCTTCTCTTCCTGAAGAAAC	0.383000													20	46					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725347	87725347	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:87725347C>T	ENST00000305344.4	+	2	998	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	HTR1E_ENST00000369584.1_Silent_p.L99L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	99					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGAGGTGTGGCTGAGTGTGGA	0.562000													115	40					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245289	59245289	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59245289C>T	ENST00000530162.1	+	1	444	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	129					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						TCTCCAAGCCCCTGCACTATG	0.498000													37	89					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633953	70633953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70633953G>A	ENST00000381269.2	-	2	1940	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S396F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S396F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S396F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S396F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	396	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGACCTTGGAAATAAAGTC	0.517000													10	162					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562950	113562950	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113562950C>T	ENST00000416899.2	+	13	2394	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	MUSK_ENST00000374448.4_Silent_p.I764I|MUSK_ENST00000189978.5_Silent_p.I764I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	764	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACGACGCTATCCCTATCCGTT	0.502000													64	125					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137322911	137322911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:137322911C>T	ENST00000367748.1	-	6	1699	c.1113G>A	c.(1111-1113)tgG>tgA	p.W371*	IL20RA_ENST00000541547.1_Nonsense_Mutation_p.W433*|IL20RA_ENST00000316649.5_Nonsense_Mutation_p.W482*			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	482						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTTGGGGATCCCAGTCGACCA	0.627000													48	86					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225561	153225561	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153225561G>A	ENST00000310441.7	-	8	2102	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	HCFC1_ENST00000369984.4_Missense_Mutation_p.S379F|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.S379F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	379					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	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	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)					CACCTCCAGGGAGTTGGTGTT	0.612000													22	13					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62452952	62452952	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:62452952C>T	ENST00000512091.1	+	4	810	c.63C>T	c.(61-63)agC>agT	p.S21S	LPHN3_ENST00000511324.1_Silent_p.S89S|LPHN3_ENST00000506746.1_Silent_p.S89S|LPHN3_ENST00000514157.1_Silent_p.S21S|LPHN3_ENST00000507164.1_Silent_p.S89S|LPHN3_ENST00000508946.1_Silent_p.S21S|LPHN3_ENST00000507625.1_Silent_p.S89S|LPHN3_ENST00000545650.1_Silent_p.S21S|LPHN3_ENST00000514996.1_Silent_p.S21S|LPHN3_ENST00000514591.1_Silent_p.S21S|LPHN3_ENST00000506720.1_Silent_p.S89S|LPHN3_ENST00000504896.1_Silent_p.S21S|LPHN3_ENST00000509896.1_Silent_p.S89S|LPHN3_ENST00000506700.1_Silent_p.S21S|LPHN3_ENST00000508693.1_Silent_p.S89S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	21					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						CAGCTTTCAGCCGTGCCCCAA	0.453000													3	16					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582000													4	119					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900362	112900362	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:112900362C>T	ENST00000374530.3	+	8	2718	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	AKAP2_ENST00000555236.1_Silent_p.F846F|AKAP2_ENST00000510514.5_Silent_p.F846F|AKAP2_ENST00000259318.7_Silent_p.F615F|AKAP2_ENST00000374525.1_Silent_p.F704F|AKAP2_ENST00000434623.2_Silent_p.F704F|PALM2-AKAP2_ENST00000302798.7_Silent_p.F846F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		615							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGCGGCTTTCGGCTCAGAAA	0.512000													11	33					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182734	134182734	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:134182734G>A	ENST00000431683.2	+	15	1453	c.1453G>A	c.(1453-1455)Ggg>Agg	p.G485R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	485					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GACAATGATAGGGATTCTGAA	0.512000													8	4					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163694970	163694970	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:163694970C>T	ENST00000332142.5	-	1	158	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R20Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	20					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCAAATTTCCGAATGATGGT	0.567000													22	48					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65371017	65371017	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:65371017C>T	ENST00000284037.5	+	23	4311	c.3922C>T	c.(3922-3924)Cat>Tat	p.H1308Y	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.H506Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H1263Y|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H1256Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H1315Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000380935.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1308					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TACACAGCCCCATTGTTCTCC	0.428000													9	183					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94043003	94043003	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94043003G>A	ENST00000297268.6	+	27	2030	c.1557_splice	c.e27-1	p.G520_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	520					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TATTTTTAGGGTGCTCCAGGT	0.433000										HNSCC(75;0.22)			38	136					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200193480	200193480	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:200193480G>A	ENST00000443023.1	-	7	2615	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	SATB2_ENST00000417098.1_Missense_Mutation_p.P443S|SATB2_ENST00000457245.1_Missense_Mutation_p.P443S|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Missense_Mutation_p.P325S|SATB2_ENST00000260926.5_Missense_Mutation_p.P443S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	443						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCACATTGGGATTCATGCTC	0.527000													39	53					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124821544	124821544	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124821544A>C	ENST00000356219.3	-	39	6046	c.5891T>G	c.(5890-5892)cTc>cGc	p.L1964R	NCOR2_ENST00000405201.1_Missense_Mutation_p.L1957R|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1518R|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1948R|NCOR2_ENST00000429285.2_Missense_Mutation_p.L1947R|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1947R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1968					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCTTGGCGAGGAAGGCATG	0.746000													5	11					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1621515	1621515	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1621515G>A	ENST00000426508.2	-	14	1908	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	515								p.L515L(1)		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)				CCGAGAAAAGGAGGAGTTGTT	0.418000													19	65					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225879	49225879	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:49225879G>A	ENST00000327979.2	-	8	990	c.579C>T	c.(577-579)atC>atT	p.I193I	FAM65C_ENST00000045083.2_Silent_p.I193I|FAM65C_ENST00000535356.1_Silent_p.I197I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	193										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCCCCTCGATGAGCCACA	0.647000													15	33					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836121	47836121	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:47836121C>T	ENST00000359568.5	+	30	6396	c.6289C>T	c.(6289-6291)Ctg>Ttg	p.L2097L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2097			L -> P (in dbSNP:rs2839245).		cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACCAAATCTCTGTGGCCCAT	0.512000													7	58					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19673922	19673922	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:19673922G>A	ENST00000328041.6	+	13	1541	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	448						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGAAACAGTGAAATGGGCGT	0.428000											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	74					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45708311	45708311	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:45708311G>A	ENST00000291582.5	+	5	749	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	208	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGCCGTGGAGGGGATCCTCAT	0.637000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				34	74					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570812	102570812	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:102570812C>T	ENST00000251808.3	+	4	788	c.450C>T	c.(448-450)atC>atT	p.I150I	GRHL2_ENST00000395927.1_Silent_p.I134I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	150						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGCCATCATCCCGGTGTCGG	0.527000													55	135					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129846	6129846	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6129846C>T	ENST00000316529.3	+	1	933	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGTGTTCCTTAATGTGCT	0.507000													49	50					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135978197	135978197	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135978197G>A	ENST00000393160.3	-	13	2070	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	RALGDS_ENST00000393157.3_Missense_Mutation_p.R627W|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.R616W|RALGDS_ENST00000372062.3_Missense_Mutation_p.R599W|RALGDS_ENST00000372050.3_Missense_Mutation_p.R628W|RALGDS_ENST00000542690.1_Missense_Mutation_p.R699W	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	628	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		TCCACGGCCCGGAACCAGGCC	0.657000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								7	27					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958934	25958934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25958934G>A	ENST00000356865.6	-	10	2342	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	744					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTTGCGGACGGAATCGAAACC	0.602000													31	97					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76859	76859	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:76859C>T	ENST00000382410.2	+	2	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	91					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TTTACTGGTTCCCCAGTATCT	0.383000													86	137					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5468623	5468623	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5468623C>T	ENST00000355029.4	+	2	276	c.134C>T	c.(133-135)tCc>tTc	p.S45F	NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	45	Necessary for nuclear localization (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AATAGATGTTCCCTTCGGAGA	0.358000													6	97					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455990	27455990	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:27455990G>A	ENST00000337929.3	+	6	1108	c.635G>A	c.(634-636)gGg>gAg	p.G212E	IL21R_ENST00000395754.4_Missense_Mutation_p.G212E|IL21R_ENST00000395755.1_Missense_Mutation_p.G212E|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.G212E	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	212					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCTACCAGGGGACCTGGAGT	0.582000			T	BCL6	NHL								35	81					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120606033	120606033	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:120606033G>A	ENST00000300648.6	-	16	1603	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	531					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCATGACCAGGAATTTCTCA	0.448000													48	104					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615086	55615086	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55615086C>T	ENST00000326258.1	+	1	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAAATTATCTCTTTTGTGGGC	0.408000													84	187					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575811	47575811	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47575811C>T	ENST00000253048.5	-	12	1637	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	534	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ATGGGCCTGCCGTTGGGAGAG	0.756000													5	10					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536210	30536210	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30536210G>A	ENST00000380412.5	-	2	1426	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	ZNF768_ENST00000562803.1_Silent_p.I386I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	417					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCATGGGGGATAAGGGCCG	0.672000													7	59					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448000													8	158					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634338	70634338	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70634338C>T	ENST00000381269.2	-	2	1555	c.802G>A	c.(802-804)Gac>Aac	p.D268N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.D268N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D268N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D268N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D268N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	268	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGGTGTTTGTCTGTGCGGTAC	0.463000													19	64					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88680724	88680724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:88680724C>T	ENST00000394480.1	-	7	854	c.533G>A	c.(532-534)gGg>gAg	p.G178E	NTRK3_ENST00000557856.1_Missense_Mutation_p.G178E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G178E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G178E|NTRK3_ENST00000540489.2_Missense_Mutation_p.G178E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G80E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G178E|NTRK3_ENST00000360948.2_Missense_Mutation_p.G178E|NTRK3_ENST00000317501.3_Missense_Mutation_p.G178E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	178	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGGCCTCCCCCTGCTCCTG	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			16	30					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934799	9934799	+	Silent	SNP	G	G	A	rs146157761		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:9934799G>A	ENST00000396573.2	-	7	1800	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	GRIN2A_ENST00000330684.3_Silent_p.I497I|GRIN2A_ENST00000562109.1_Silent_p.I497I|GRIN2A_ENST00000535259.1_Silent_p.I340I|GRIN2A_ENST00000404927.2_Silent_p.I497I|GRIN2A_ENST00000396575.2_Silent_p.I497I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	497					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I497I(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTACTTCACCGATCATTCCAT	0.428000													50	88					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084905	32084905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:32084905G>A	ENST00000403528.2	+	3	497	c.112G>A	c.(112-114)Gat>Aat	p.D38N	HCRTR1_ENST00000373705.1_Missense_Mutation_p.D38N|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373706.5_Missense_Mutation_p.D38N	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	38					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCTGTGGCGCGATTATCTGTA	0.612000													106	177					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97983587	97983587	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:97983587C>T	ENST00000224337.5	-	6	661	c.520G>A	c.(520-522)Gat>Aat	p.D174N	BLNK_ENST00000371176.2_Missense_Mutation_p.D174N|BLNK_ENST00000413476.2_Missense_Mutation_p.D174N|BLNK_ENST00000427367.2_Missense_Mutation_p.D174N	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	174	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTTACCTCATCCTCAAGGAGG	0.587000													62	112					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180472567	180472567	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180472567C>T	ENST00000327705.9	+	2	309	c.78C>T	c.(76-78)ctC>ctT	p.L26L	BTNL9_ENST00000376841.2_Silent_p.L26L|BTNL9_ENST00000376842.3_Silent_p.L26L|BTNL9_ENST00000515271.1_Intron	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	26						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|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)			TCATGCACCTCCTCCTCCTTC	0.617000													35	52					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641210	29641210	+	Silent	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29641210A>C	ENST00000376883.1	-	6	1029	c.618T>G	c.(616-618)ctT>ctG	p.L206L	ZFP57_ENST00000376881.3_Silent_p.L206L|ZFP57_ENST00000488757.1_Silent_p.L226L			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	142					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCCTCTCCCCAAGATGCATGC	0.547000													10	151					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938921	2938921	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:2938921C>T	ENST00000378404.2	+	1	876	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	224				A -> P (in Ref. 1; BAB85862).		cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGCTACGTGGCCTTGGAGCCC	0.637000													49	90					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120850572	120850572	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:120850572T>A	ENST00000313655.4	-	8	1214	c.1000A>T	c.(1000-1002)Aat>Tat	p.N334Y		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	334					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGTTCCTGATTATCCTCAGGT	0.363000													6	170					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814782	56814782	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56814782G>A	ENST00000229201.4	-	24	3156	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	TIMELESS_ENST00000553532.1_Missense_Mutation_p.S1002L|TIMELESS_ENST00000554616.1_Missense_Mutation_p.S499L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1002					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GTTTTCATTTGAAAGGACTAA	0.498000													53	92					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243903	103243903	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103243903G>A	ENST00000428762.1	-	24	3340	c.3181C>T	c.(3181-3183)Cca>Tca	p.P1061S	RELN_ENST00000424685.2_Missense_Mutation_p.P1061S|RELN_ENST00000343529.5_Missense_Mutation_p.P1061S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1061					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGCTTCTGGGTGGCATTCA	0.527000													30	157					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49194948	49194948	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49194948G>A	ENST00000340334.7	-	11	1509	c.1141C>T	c.(1141-1143)Cat>Tat	p.H381Y	FOLH1_ENST00000256999.2_Missense_Mutation_p.H396Y|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Missense_Mutation_p.H88Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.H381Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.H396Y	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	396	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACAATTTCATGAACAACAGCT	0.423000													48	98					0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28602162	28602162	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28602162C>T	ENST00000317058.3	+	9	858	c.671C>T	c.(670-672)cCt>cTt	p.P224L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	224	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGACGGACCCTGAGGCCTTG	0.642000													17	46					0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97363076	97363076	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97363076C>T	ENST00000319273.5	+	3	462	c.165C>T	c.(163-165)atC>atT	p.I55I	TAC1_ENST00000350485.4_Silent_p.I55I|TAC1_ENST00000346867.4_Silent_p.I55I	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	55					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGCAGAGAATCGCCCGGAGAC	0.592000													22	213					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996432	120996432	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120996432A>T	ENST00000392793.1	+	8	1896	c.1625A>T	c.(1624-1626)gAc>gTc	p.D542V	TECTA_ENST00000264037.2_Missense_Mutation_p.D542V			O75443	TECTA_HUMAN	tectorin alpha	542					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACTGTCGTGGACCCCACTGCT	0.587000													92	79					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393298	233393298	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:233393298C>T	ENST00000457943.2	+	5	469	c.170C>T	c.(169-171)tCc>tTc	p.S57F	CHRND_ENST00000543200.1_Silent_p.F132F|CHRND_ENST00000258385.3_Silent_p.F147F|CHRND_ENST00000536614.1_Silent_p.F147F			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTGCCATCTTCCGCTCCTCCT	0.592000													65	174					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423339	48423339	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48423339C>T	ENST00000296438.5	+	9	1321	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Missense_Mutation_p.H222Y|FBXW12_ENST00000415155.1_Missense_Mutation_p.H309Y|FBXW12_ENST00000445170.1_Missense_Mutation_p.H360Y	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	379								p.H379Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTGAGGACCATCAGGCAGC	0.473000													34	94					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774090	35774090	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:35774090A>G	ENST00000440995.2	+	28	4030	c.4030A>G	c.(4030-4032)Aaa>Gaa	p.K1344E	SPEF2_ENST00000356031.3_Missense_Mutation_p.K1349E|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1349					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTCAAAATAAAAGAAGAACA	0.408000													26	104					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541155	133541155	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133541155C>T	ENST00000409261.1	-	14	3602	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1077K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1077							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GACGTCATTTCCAGTGGCTCA	0.512000													90	162					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324980	79324980	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79324980C>T	ENST00000428286.1	-	8	2333	c.1133G>A	c.(1132-1134)aGc>aAc	p.S378N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S737N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	737					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAACGGCAAGCTTTCCTCATT	0.458000													20	28					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231629	125231629	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125231629G>A	ENST00000439075.1	-	0	3116					NR_026876.1																						GAAAGAACTTGATCAAAATGA	0.254000													6	9					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329667	20329667	+	Missense_Mutation	SNP	C	C	T	rs17853083		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20329667C>T	ENST00000302555.5	-	7	1242	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	GP2_ENST00000381360.5_Missense_Mutation_p.E221K|GP2_ENST00000341642.5_Missense_Mutation_p.E218K|GP2_ENST00000381362.4_Missense_Mutation_p.E368K			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	368	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCATCCCCTTCGTAAGGATTC	0.507000													82	154					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160099146	160099146	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160099146C>T	ENST00000361216.3	+	11	1506	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.P473S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	473					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGACAGAAACCCCAAGGTGGC	0.527000													8	342					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118945866	118945866	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:118945866G>A	ENST00000467604.1	-	4	667	c.276C>T	c.(274-276)ttC>ttT	p.F92F	B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Silent_p.F45F|B4GALT4_ENST00000393765.2_Silent_p.F92F|B4GALT4_ENST00000483209.1_Silent_p.F92F|B4GALT4_ENST00000359213.3_Silent_p.F92F			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	92					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GATCTGGTTTGAAAATGAGCT	0.448000													12	74					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600430	56600430	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56600430G>A	ENST00000270459.3	-	3	229	c.111C>T	c.(109-111)gtC>gtT	p.V37V		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCAGCTGGGGACGTCGTCAT	0.677000													4	6					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202843412	202843412	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:202843412G>A	ENST00000456105.2	+	0	1364					NR_002929.2																						AGCAGGAGTAGGATGAATCAA	0.493000													4	46					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260179	96260179	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96260179C>T	ENST00000272395.2	+	2	544	c.408C>T	c.(406-408)caC>caT	p.H136H		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	136						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGAGGAACACCGGGTAAGAG	0.488000													6	44					0	0	1	0	0
SYNE4	163183	broad.mit.edu	37	19	36494256	36494256	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36494256C>T	ENST00000324444.3	-	8	1309	c.1198G>A	c.(1198-1200)Ggt>Agt	p.G400S	SYNE4_ENST00000340477.5_Missense_Mutation_p.G287S	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		GGGGGAAGACCATTGACATAG	0.542000													24	34					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101598272	101598272	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101598272G>A	ENST00000284395.5	+	30	4996	c.4596G>A	c.(4594-4596)ggG>ggA	p.G1532G	LRRK1_ENST00000388948.3_Silent_p.G1535G|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1535					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGCTGTGGGAAGCAGACAG	0.587000													36	53					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73167834	73167834	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:73167834G>A	ENST00000377110.2	-	23	3707	c.3464C>T	c.(3463-3465)aCc>aTc	p.T1155I	TRPM3_ENST00000423814.3_Missense_Mutation_p.T1182I|TRPM3_ENST00000377105.1_Missense_Mutation_p.T1014I|TRPM3_ENST00000358082.3_Missense_Mutation_p.T1017I|TRPM3_ENST00000396280.5_Missense_Mutation_p.T1004I|TRPM3_ENST00000357533.2_Missense_Mutation_p.T1159I|TRPM3_ENST00000377111.2_Missense_Mutation_p.T1155I|TRPM3_ENST00000396285.1_Missense_Mutation_p.T1014I|TRPM3_ENST00000360823.2_Missense_Mutation_p.T1017I|TRPM3_ENST00000377106.1_Missense_Mutation_p.T1027I|TRPM3_ENST00000396292.4_Missense_Mutation_p.T1027I|TRPM3_ENST00000408909.2_Missense_Mutation_p.T1014I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1180						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAATATCATGGTCATGTGGCT	0.522000													93	275					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909076	94909076	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94909076G>A	ENST00000334708.3	-	5	1200	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	379					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGGGGGCTGGGAGAGGAGGCC	0.572000													3	35					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3670717	3670717	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3670717C>T	ENST00000294600.2	+	2	438	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	118										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCACCGGCTTCATGTCCAAAA	0.597000													93	166					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870161	4870161	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4870161G>A	ENST00000322101.2	-	1	353	c.278C>T	c.(277-279)gCc>gTc	p.A93V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAGCAAGGGCGATGCCCAG	0.547000													52	41					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82323056	82323056	+	Silent	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:82323056C>G	ENST00000376520.4	+	13	1884	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	TLE4_ENST00000376544.3_Silent_p.V251V|TLE4_ENST00000265284.6_Silent_p.V295V|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.V320V|TLE4_ENST00000376537.4_Silent_p.V352V			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTACTCCCGTCTCAAAGTCCA	0.433000													42	85					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582050	179582050	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179582050C>T	ENST00000589042.1	-	88	25635	c.25411G>A	c.(25411-25413)Gaa>Aaa	p.E8471K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E8154K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7227K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8154	Ig-like 67.						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)			GTACCACTTTCTCCAAGAGCA	0.408000													38	57					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418484	55418484	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55418484C>T	ENST00000312422.2	+	1	105	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCTACATAATCATTCTTCTGG	0.378000													72	128					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	58					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152507	149152507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149152507C>T	ENST00000247930.4	-	2	930	c.607G>A	c.(607-609)Gcc>Acc	p.A203T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCCTCATGGCCTGGGCCTCC	0.602000													51	254					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74554801	74554801	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74554801A>T	ENST00000321288.5	+	5	815	c.815A>T	c.(814-816)aAg>aTg	p.K272M	CCDC33_ENST00000398814.3_Missense_Mutation_p.K69M			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	272	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTGAGGAAAAGAACAATCAG	0.567000													40	59					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708958	96708958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96708958G>A	ENST00000260682.6	+	5	748	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	246					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTATATTTTGGAAAAAGTAAA	0.318000													36	69					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685843	77685843	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77685843C>T	ENST00000298351.4	+	4	297	c.153C>T	c.(151-153)ctC>ctT	p.L51L	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	51						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCTGTAGCTCGTCCTTGTGG	0.597000													46	101					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956412	128956412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:128956412G>A	ENST00000274487.4	+	9	1707	c.1562G>A	c.(1561-1563)tGg>tAg	p.W521*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	521	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACGTTTCATGGTCTCGATGT	0.403000													75	164					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198102	170198102	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:170198102G>A	ENST00000231706.4	-	7	2284	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	657						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCGCAAACCGGATCCATGTG	0.498000													68	124					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117516889	117516889	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:117516889G>C	ENST00000393203.2	+	7	2258	c.2111G>C	c.(2110-2112)gGa>gCa	p.G704A	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	704	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTAATTCGGGGAGATCTGATC	0.438000													58	129					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197590758	197590758	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:197590758C>T	ENST00000389175.4	+	22	2626	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.L478L|CCDC150_ENST00000409270.1_Silent_p.L318L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	831										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATAGAAGCTCTAAGAAAGCA	0.418000													9	26					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205796	20205796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:20205796G>A	ENST00000407540.3	-	2	561	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	MATN3_ENST00000421259.2_Nonsense_Mutation_p.Q167*	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	167	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGCTGTCTGGATGGCTAGG	0.567000													19	71					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29370504	29370504	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:29370504G>A	ENST00000398878.3	+	0	1115				SNX29P2_ENST00000507381.1_RNA																							ATCTTCCAGGGAGCCGTCTAA	0.433000													4	10					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139894	50139894	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:50139894G>T	ENST00000371564.3	-	2	1105	c.886C>A	c.(886-888)Cct>Act	p.P296T	NFATC2_ENST00000396009.3_Missense_Mutation_p.P296T|NFATC2_ENST00000414705.1_Missense_Mutation_p.P276T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	296					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCACAGGGGGGTACCCA	0.706000													11	19					9.70103e-10	9.75819e-10	1	1	0
BBS12	166379	broad.mit.edu	37	4	123663292	123663292	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123663292G>A	ENST00000542236.1	+	3	626	c.245G>A	c.(244-246)aGa>aAa	p.R82K	BBS12_ENST00000314218.3_Missense_Mutation_p.R82K	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	82					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACACATATAGAACTGGAATC	0.388000									Bardet-Biedl syndrome				38	82					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812871	14812871	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:14812871G>A	ENST00000380881.4	-	17	3650	c.2835C>T	c.(2833-2835)gtC>gtT	p.V945V	FREM1_ENST00000422223.2_Silent_p.V944V|FREM1_ENST00000380880.3_Silent_p.V944V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	944					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GATCCACTGTGACTCCAGCTC	0.483000													111	79					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6021381	6021381	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6021381G>A	ENST00000574946.1	+	8	1638	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	WSCD1_ENST00000574232.1_Silent_p.R416R|WSCD1_ENST00000573634.1_Silent_p.R300R|WSCD1_ENST00000317744.5_Silent_p.R416R|WSCD1_ENST00000539421.1_Silent_p.R416R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	416						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTGGCAGGAGGGAGATTGAGA	0.542000													27	66					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417332	150417332	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417332C>T	ENST00000307194.5	+	3	380	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGTGGAAGTCGTGGACACTC	0.642000													8	136					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28713970	28713970	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28713970C>A	ENST00000257197.3	-	13	2261	c.2000G>T	c.(1999-2001)tGt>tTt	p.C667F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.C667F	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	667	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGGAGTTGAACAGTCACATAC	0.368000													30	136					3.03874e-20	3.06976e-20	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457410	110457410	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110457410G>A	ENST00000378402.5	+	38	5416	c.5312G>A	c.(5311-5313)gGt>gAt	p.G1771D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1771	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GAAGGAGAAGGTTTGGGGACT	0.393000										HNSCC(38;0.096)			34	69					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023376	18023376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18023376C>T	ENST00000205890.5	+	2	1600	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	421	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATCCCGTCGCCCCACAACCCG	0.667000													5	128					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1052008	1052008	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:1052008G>A	ENST00000263094.6	+	22	3261	c.3030G>A	c.(3028-3030)gtG>gtA	p.V1010V	ABCA7_ENST00000435683.2_Silent_p.V872V|ABCA7_ENST00000433129.1_Silent_p.V1010V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1010	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGGCCGTGGTGGCAGGTG	0.672000													37	59					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53372167	53372167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:53372167C>T	ENST00000541281.1	-	6	712	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	ECHDC2_ENST00000371522.4_Intron|ECHDC2_ENST00000358358.5_Intron|ECHDC2_ENST00000536120.1_Intron			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	0					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GCCCCACCCCCTGCCCCCAGT	0.597000													6	13					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920565	43920565	+	Silent	SNP	G	G	A	rs60313023	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43920565G>A	ENST00000602198.1	+	6	745	c.303G>A	c.(301-303)ccG>ccA	p.P101P	TEX101_ENST00000598265.1_Silent_p.P83P|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.P101P	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	83						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GCTGCATCCCGGAAGGGGAGG	0.537000													65	162					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596536	124596536	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124596536C>T	ENST00000368904.1	-	7	1577	c.628G>A	c.(628-630)Gat>Aat	p.D210N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D210N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D210N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	210	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCAAGAAAATCAAATTTGCAC	0.433000													22	26					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46901890	46901890	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46901890C>T	ENST00000359759.4	+	13	2891	c.2870C>T	c.(2869-2871)cCt>cTt	p.P957L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P722L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P542L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	957	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCCAGGCCCTCCGGGAAGA	0.597000													13	22					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115384623	115384623	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115384623A>T	ENST00000369358.4	-	22	2579	c.2335T>A	c.(2335-2337)Ttc>Atc	p.F779I	NRAP_ENST00000359988.3_Missense_Mutation_p.F771I|NRAP_ENST00000369360.3_Missense_Mutation_p.F744I|NRAP_ENST00000360478.3_Missense_Mutation_p.F736I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	771						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTGCAGGAAGAGAGGCTCG	0.532000													44	108					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117087060	117087060	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:117087060A>T	ENST00000457047.2	-	2	290	c.237T>A	c.(235-237)aaT>aaA	p.N79K	CD58_ENST00000369487.3_Missense_Mutation_p.N79K|CD58_ENST00000369489.5_Missense_Mutation_p.N79K	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	79					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AATAAACCCTATTTTTAAAAG	0.343000													35	73					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614298	87614298	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87614298G>A	ENST00000327946.7	-	8	1273	c.1188C>T	c.(1186-1188)atC>atT	p.I396I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	396						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TAGTGCCAAGGATTTCAAACT	0.507000										Multiple Myeloma(13;0.14)			27	85					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61833655	61833655	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:61833655G>A	ENST00000225726.5	-	8	1275	c.893C>T	c.(892-894)tCt>tTt	p.S298F	CCDC47_ENST00000403162.3_Missense_Mutation_p.S298F|CCDC47_ENST00000582252.1_Missense_Mutation_p.S298F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	298						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GATGGCCAAAGAGTCCGGCAG	0.418000													14	110					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28758895	28758895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:28758895C>T	ENST00000225719.4	+	8	2199	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	CPD_ENST00000543464.2_Missense_Mutation_p.S461F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	708	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTTCTTATTCCAAGGTAGGC	0.338000													21	49					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212784	26212784	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:26212784G>A	ENST00000379034.1	+	2	970	c.821G>A	c.(820-822)gGa>gAa	p.G274E		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	274	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCCAGTGAAGGAATTCTGAGT	0.532000													68	38					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247360	149247360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:149247360C>T	ENST00000407073.1	+	12	4457	c.3460C>T	c.(3460-3462)Cat>Tat	p.H1154Y	MBD5_ENST00000404807.1_Missense_Mutation_p.H1387Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1154						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGTGTTGATCATGATGGTAG	0.488000													46	64					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708058	43708058	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43708058C>T	ENST00000398437.1	+	10	1619	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	ABCG1_ENST00000343687.3_Missense_Mutation_p.R356W|ABCG1_ENST00000398449.3_Missense_Mutation_p.R345W|ABCG1_ENST00000398457.2_Missense_Mutation_p.R347W|ABCG1_ENST00000361802.2_Missense_Mutation_p.R345W|ABCG1_ENST00000340588.4_Missense_Mutation_p.R453W|ABCG1_ENST00000347800.2_Missense_Mutation_p.R342W|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	345	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGAGCGGTTCGGGAGGGCAT	0.602000													96	246					0	0	1	0	0
PFN4	375189	broad.mit.edu	37	2	24345362	24345362	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:24345362G>C	ENST00000313213.4	-	2	415	c.44C>G	c.(43-45)aCc>aGc	p.T15S	PFN4_ENST00000465360.1_Intron	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	15					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGCTTGGTTCCCAAGAG	0.463000													5	195					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156916532	156916532	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156916532G>A	ENST00000368194.3	-	28	3655	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	ARHGEF11_ENST00000361409.2_Silent_p.F832F|ARHGEF11_ENST00000315174.8_Silent_p.F248F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	832	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|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)					GATAGGAACAGAACTGTGCAG	0.557000													99	309					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063951	48063951	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:48063951C>T	ENST00000316364.5	+	19	3630	c.3191C>T	c.(3190-3192)tCt>tTt	p.S1064F	SEMA6D_ENST00000537942.1_Missense_Mutation_p.S1002F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S1008F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S989F|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S1045F|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S1021F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S1002F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S1002F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S1064F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1064					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAACCCCATCTGTCAGACCA	0.483000													75	216					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33641370	33641370	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33641370C>T	ENST00000374316.5	+	24	3991	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	ITPR3_ENST00000605930.1_Silent_p.F977F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	977					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTCTCCAGTTCATCCTCAATG	0.557000													64	375					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228444413	228444413	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228444413G>A	ENST00000570156.2	+	16	4721	c.4647G>A	c.(4645-4647)ggG>ggA	p.G1549G	OBSCN_ENST00000284548.11_Silent_p.G1457G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G1457G|OBSCN_ENST00000359599.6_Silent_p.G21G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	526	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.G1457G(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGGCGGGGGCCAGCACCA	0.622000													39	42					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583683	35583683	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:35583683C>T	ENST00000287272.2	+	9	1130	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000449677.1_Silent_p.L15L|UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000453357.2_Silent_p.L434L|UNC5D_ENST00000404895.2_Silent_p.L439L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	439					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502000													50	69					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48455480	48455480	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48455480C>T	ENST00000358536.4	-	22	4479	c.4209_splice	c.e22-1	p.G1404_splice	PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Splice_Site_p.G15_splice|PLXNB1_ENST00000456774.1_Splice_Site_p.G1221_splice|PLXNB1_ENST00000358459.4_Splice_Site_p.G1221_splice|PLXNB1_ENST00000296440.6_Splice_Site_p.G1404_splice	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1404					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTCTCCCCCTGGAACAGA	0.597000													17	58					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004375	155004375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:155004375C>T	ENST00000302805.2	+	2	1273	c.842C>T	c.(841-843)cCc>cTc	p.P281L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	281					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACCCTTCCCCAAGGCCCAG	0.542000													8	124					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162680563	162680563	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:162680563G>A	ENST00000306100.5	-	6	1163	c.727_splice	c.e6+1	p.Q243_splice	FSTL5_ENST00000379164.4_Splice_Site_p.Q242_splice|FSTL5_ENST00000427802.2_Splice_Site_p.Q242_splice|FSTL5_ENST00000536695.1_Splice_Site_p.Q242_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	243	EF-hand 2.					extracellular region	calcium ion binding	p.Q243K(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGTACTCACGGAATGCTCTA	0.353000													29	65					0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107599391	107599391	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:107599391G>A	ENST00000370078.1	+	1	91	c.54G>A	c.(52-54)ggG>ggA	p.G18G	PRMT6_ENST00000361318.5_5'UTR			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	18	Poly-Gly.				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCGAAGGAGGGGAGGGAACTG	0.687000													5	6					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985632	50985632	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50985632G>A	ENST00000442544.2	+	24	4039	c.3423G>A	c.(3421-3423)agG>agA	p.R1141R	DCC_ENST00000581580.1_Silent_p.R776R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1141					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGCAAAAGGAAGGGCAGCC	0.473000													29	75					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56928386	56928386	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56928386G>T	ENST00000244040.3	+	4	537	c.256G>T	c.(256-258)Gat>Tat	p.D86Y		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	86					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AATCGTTTATGATATCACAAA	0.373000													39	87					5.44703e-19	5.49932e-19	1	1	0
OR2B3	442184	broad.mit.edu	37	6	29054710	29054710	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29054710C>T	ENST00000377173.2	-	1	380	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GCACCTAGGGCCAGGAAGATG	0.458000													29	118					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43618700	43618700	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:43618700C>T	ENST00000292246.3	-	6	816	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.E150K|ANO10_ENST00000414522.2_Missense_Mutation_p.E216K|ANO10_ENST00000451430.2_Missense_Mutation_p.E105K	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	216					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GTGAAATACTCCAAAAATCCA	0.388000													17	45					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752243	13752243	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13752243C>T	ENST00000265104.4	-	64	11132	c.11028_splice	c.e64+1	p.K3676_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3676	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTAACCTACCTTAAAGGTAG	0.378000									Kartagener syndrome				26	29					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299840	145299840	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145299840C>T	ENST00000342960.5	+	6	924	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.P26S|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	297										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATTGCGCCCCCAGCTGGC	0.483000													56	604					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753415	49753415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49753415C>T	ENST00000327697.6	+	33	3455	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	RNF123_ENST00000433785.1_Missense_Mutation_p.S216F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1104						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGGCCTACCTCTGAGATGCTG	0.592000													32	94					0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55560108	55560108	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55560108G>A	ENST00000285279.5	-	4	395	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VOPP1_ENST00000433959.1_Silent_p.F56F|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000454227.1_Silent_p.F2F|VOPP1_ENST00000453256.1_5'UTR|VOPP1_ENST00000418904.1_Silent_p.F48F|VOPP1_ENST00000427700.1_Silent_p.F63F|VOPP1_ENST00000545390.1_Silent_p.F62F	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						TCATCAGAAGGAACCTGAGGA	0.632000													11	10					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862823	10862823	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:10862823C>T	ENST00000559480.1	+	0	119																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGAAGGTCTCCTGCAAGGCT	0.572000													34	320					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36717781	36717781	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:36717781G>A	ENST00000264659.7	-	7	1842	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P574S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	412	Interaction with SNAP25 (By similarity).				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCTCCGAAGGGGGAGCTCCG	0.687000													4	23					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481224	228481224	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228481224G>A	ENST00000570156.2	+	46	12399	c.12325G>A	c.(12325-12327)Gag>Aag	p.E4109K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E3680K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E799K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3680K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E799K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2527K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3151	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGGTGTGAGCTGCAGAT	0.637000													9	151					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325180	57325180	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57325180C>T	ENST00000326441.9	-	10	4993	c.4630G>A	c.(4630-4632)Ggc>Agc	p.G1544S	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1418S|PEG3_ENST00000598410.1_Missense_Mutation_p.G1420S|PEG3_ENST00000423103.2_Missense_Mutation_p.G1544S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1544					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGATGTAGCCTGAGCACTCC	0.502000													55	100					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341338	39341338	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39341338G>A	ENST00000263408.4	-	4	481	c.386C>T	c.(385-387)tCa>tTa	p.S129L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	129	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCCTCATCTGAAAAGTCTCC	0.473000													44	355					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331818	175331818	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175331818G>A	ENST00000367674.1	-	14	3543	c.2835C>T	c.(2833-2835)atC>atT	p.I945I	TNR_ENST00000263525.2_Silent_p.I945I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	945	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I945I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAAGAGTACAGATGCGCTCGC	0.532000													63	64					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53417190	53417190	+	Silent	SNP	G	G	A	rs138988521		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:53417190G>A	ENST00000395631.2	-	2	313	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	FERMT2_ENST00000343279.4_Silent_p.L33L|FERMT2_ENST00000399304.3_Silent_p.L33L|FERMT2_ENST00000553373.1_Silent_p.L33L|FERMT2_ENST00000341590.3_Silent_p.L33L			Q96AC1	FERM2_HUMAN	fermitin family member 2	33					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)					GTCACTCTCAGGGTGACATCG	0.587000													107	176					0	0	1	0	0
LOC93432	93432	broad.mit.edu	37	7	141896589	141896589	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141896589C>T	ENST00000477922.3	+	40	4659	c.4605C>T	c.(4603-4605)tcC>tcT	p.S1535S																	endometrium(1)|lung(5)	6						ATCCATTTTCCAGAAACCACA	0.458000													9	42					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113910	107113910	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107113910C>T	ENST00000454421.2	-	0	261																											CAGTCCCTTCCCTGGAGCCTG	0.527000													109	390					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235048	33235048	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33235048C>T	ENST00000445902.2	-	11	1260	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.G223R	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	348					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCGCGGGTTCCTAGGGTGAAA	0.562000													38	130					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667294	33667294	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:33667294C>T	ENST00000321505.4	+	16	4761	c.4581C>T	c.(4579-4581)tcC>tcT	p.S1527S	KIAA1549L_ENST00000389726.3_Silent_p.S1533S					KIAA1549-like																		GGGGCTATTCCAGGTCTCGAC	0.542000													49	118					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643117	1643117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1643117C>T	ENST00000252804.4	-	20	4080	c.4030G>A	c.(4030-4032)Gag>Aag	p.E1344K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1344					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCTTGTCCTCCTGGTAGCTG	0.532000													31	45					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427756	103427756	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:103427756C>T	ENST00000358392.2	-	40	3443	c.3126G>A	c.(3124-3126)ggG>ggA	p.G1042G	COL11A1_ENST00000353414.4_Silent_p.G991G|COL11A1_ENST00000512756.1_Silent_p.G914G|COL11A1_ENST00000370096.3_Silent_p.G1030G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1030	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCTCTTTCCCCTGGGAAAC	0.383000													4	93					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160879179	160879179	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160879179C>T	ENST00000283243.7	-	7	1497	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D431N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	431	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GACTCACCATCTCCAAGGAGG	0.388000													51	94					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200721	155200721	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:155200721C>T	ENST00000460012.1	-	23	3361	c.3004G>A	c.(3004-3006)Ggg>Agg	p.G1002R	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002R|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1040R|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002R|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1040					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGTGTCCCCTTGGCTGGTA	0.448000													51	76					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775556	38775556	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:38775556G>A	ENST00000308973.4	-	4	2261	c.1656C>T	c.(1654-1656)acC>acT	p.T552T	TLR10_ENST00000508334.1_Silent_p.T552T|TLR10_ENST00000361424.2_Silent_p.T552T|TLR10_ENST00000506111.1_Silent_p.T552T	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	552	LRRCT.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGTATTCACAGGTGTATGAAT	0.398000													15	168					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937290	6937290	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6937290C>T	ENST00000312053.4	+	19	2455	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	EMR1_ENST00000381407.5_Silent_p.I665I|EMR1_ENST00000450315.3_Silent_p.I629I|EMR1_ENST00000250572.8_Silent_p.I741I|EMR1_ENST00000381404.4_Silent_p.I787I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	806					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					AGCTCTTCATCCTGGGCTGCT	0.552000													59	94					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326464	142326464	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142326464C>T	ENST00000390393.3	+	0	102																											tcattccaGCCTCTGACAAAC	0.512000													10	25					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964961	7964961	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7964961C>T	ENST00000539278.1	-	1	3466	c.306G>A	c.(304-306)ggG>ggA	p.G102G	LRRC8E_ENST00000306708.6_Silent_p.F518F																							AGGGGCTTTTCCCCCAGGAGC	0.657000													26	24					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010107	24010107	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:24010107C>T	ENST00000496398.1	+	4	567	c.144C>T	c.(142-144)atC>atT	p.I48I	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Silent_p.I48I|RP11-255H23.4_ENST00000599944.1_lincRNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GCATCTATATCATAAATCTCA	0.443000													12	33					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116196121	116196121	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:116196121G>A	ENST00000369252.4	-	23	2356	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ABLIM1_ENST00000369266.3_Silent_p.A422A|ABLIM1_ENST00000277895.5_Silent_p.A745A|ABLIM1_ENST00000392952.3_Silent_p.A422A|ABLIM1_ENST00000533213.2_Silent_p.A685A|ABLIM1_ENST00000369253.2_Silent_p.A368A	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	745					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACACTTCAGGGGCTAAGTGGC	0.438000													39	87					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14775011	14775011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14775011C>T	ENST00000261170.3	-	22	2665	c.2529G>A	c.(2527-2529)atG>atA	p.M843I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	843	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCACCACTTCCATGGGGGTGC	0.418000													30	54					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071420	41071420	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:41071420G>A	ENST00000352632.3	+	28	6093	c.6007G>A	c.(6007-6009)Gag>Aag	p.E2003K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2003K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E746K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E2003K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2003					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTGCCAGGAGCTGGGGCG	0.637000													27	47					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127912726	127912726	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:127912726C>T	ENST00000329722.7	+	6	964	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	318						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ATATAGAGATCATTCGGAATC	0.279000													13	33					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815029	30815029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:30815029C>T	ENST00000313401.3	+	2	1080	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	131					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCCCCTCACCCTGCCGTCAC	0.692000													34	89					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962599	165962599	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:165962599G>A	ENST00000512596.1	+	3	1591	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	TRIM60_ENST00000341062.5_Missense_Mutation_p.E459K|TRIM60_ENST00000508504.1_Missense_Mutation_p.E459K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	459	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AACAGATTCCGAACCTCTTAA	0.338000													20	56					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105456070	105456070	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:105456070G>A	ENST00000264122.4	-	8	1337	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.P339L|CBLB_ENST00000394027.3_Missense_Mutation_p.P361L|CBLB_ENST00000403724.1_Missense_Mutation_p.P339L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	339	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGTTAAATCAGGATTATAACT	0.274000			Mis S		AML								33	66					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													135	252					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448716	10448716	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10448716G>A	ENST00000245503.5	-	5	836	c.452C>T	c.(451-453)gCc>gTc	p.A151V	MYH2_ENST00000397183.2_Missense_Mutation_p.A151V|MYH2_ENST00000532183.1_Missense_Mutation_p.A151V|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	151	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTGGGGCGGGGCCTCCTGGCG	0.532000													79	205					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60021700	60021700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:60021700G>A	ENST00000586569.1	+	4	398	c.360G>A	c.(358-360)tgG>tgA	p.W120*	TNFRSF11A_ENST00000269485.7_Nonsense_Mutation_p.W120*	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	120					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGTACCACTGGAGCCAGGACT	0.706000													21	44					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718918	42718918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:42718918C>T	ENST00000230882.4	+	10	1499	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	GHR_ENST00000357703.3_Missense_Mutation_p.H415Y|GHR_ENST00000537449.1_Missense_Mutation_p.H250Y	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	437					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCACCTTATCATGATGCTTG	0.468000													35	105					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617672	100617672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:100617672C>T	ENST00000267294.4	-	2	2184	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	651					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGTAAATTTCCTCATCTTCA	0.473000													6	125					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55708490	55708490	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55708490G>A	ENST00000376350.3	-	9	2007	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.S484F	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	662	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACATGTGGACGCACAGAG	0.537000													21	62					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364217	23364217	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23364217C>T	ENST00000343070.2	+	3	583	c.407C>T	c.(406-408)gCc>gTc	p.A136V	SCNN1B_ENST00000307331.5_Missense_Mutation_p.A181V|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A136V|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A136V|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	136					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CATGCCAATGCCACCAGGAAC	0.522000													10	143					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050428	49050428	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49050428C>T	ENST00000395474.3	+	2	1831	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.P436P|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	487					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCTGCTGCCCCCAAGCAAGC	0.612000													26	56					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032486	41032486	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41032486G>A	ENST00000380620.3	+	5	592		c.e5-1		AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Splice_Site|B3GALT5_ENST00000380618.1_Splice_Site|B3GALT5_ENST00000398714.2_Splice_Site			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GTTCCTTTCAGATGGCTTTCC	0.418000													45	121					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50395889	50395889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50395889C>T	ENST00000266025.3	-	1	1152	c.606G>A	c.(604-606)tgG>tgA	p.W202*	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	202					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGATATACCCAACTGGAGA	0.637000													13	70					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113545940	113545940	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113545940C>T	ENST00000546530.1	-	15	1750	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	RASAL1_ENST00000261729.5_Missense_Mutation_p.D488N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D488N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.D488N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGTGTTGGTCCCGAAGGTCA	0.552000													13	33					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151314705	151314705	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151314705G>A	ENST00000290524.4	-	11	1986	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	RFX5_ENST00000452513.2_Missense_Mutation_p.S563F|RFX5_ENST00000368870.2_Missense_Mutation_p.S603F|RFX5_ENST00000452671.2_Missense_Mutation_p.S603F	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	603						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGATAAGGAACTTTGAAG	0.473000													52	169					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34191995	34191995	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:34191995C>T	ENST00000257209.4	+	9	1016	c.894C>T	c.(892-894)tcC>tcT	p.S298S	FHOD3_ENST00000359247.4_Silent_p.S298S|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Silent_p.S298S|FHOD3_ENST00000590592.1_Silent_p.S298S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	298	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGCTGTGTCCCAGAGGCACT	0.502000													33	70					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321926	55321926	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55321926C>T	ENST00000314644.2	+	1	144	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGGAGCTTTCATCTTTTCCT	0.373000										HNSCC(20;0.049)			69	144					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323674	31323674	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31323674A>G	ENST00000269197.5	+	12	3862	c.3862A>G	c.(3862-3864)Act>Gct	p.T1288A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1288	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCCAGGGAACTGACACTCC	0.403000													28	71					0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34295274	34295274	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:34295274G>A	ENST00000306730.3	-	2	533	c.404C>T	c.(403-405)tCa>tTa	p.S135L	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	135					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCCCCTCTGTGACTCTCCACT	0.383000													33	59					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964861	40964861	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40964861C>T	ENST00000313164.9	+	14	2127	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	590	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACAATGTTTCCTGTGGGGAA	0.373000													30	101					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133907765	133907765	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:133907765T>C	ENST00000427044.2	-	10	1061	c.451A>G	c.(451-453)Act>Gct	p.T151A	RYK_ENST00000296084.4_Missense_Mutation_p.T341A			P34925	RYK_HUMAN	receptor-like tyrosine kinase	337	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CGCCCAAAAGTACCTAAAAGG	0.269000													12	21					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25605579	25605579	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:25605579G>A	ENST00000232165.3	-	7	2360	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	UBE3A_ENST00000428984.2_Silent_p.S548S|UBE3A_ENST00000566215.1_Silent_p.S548S|UBE3A_ENST00000397954.2_Silent_p.S571S|UBE3A_ENST00000438097.1_Silent_p.S548S|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	571					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAAATTCTTTGGAAACACCTC	0.378000													28	53					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29001962	29001962	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29001962C>T	ENST00000282397.4	-	9	1454	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	FLT1_ENST00000541932.1_Silent_p.G401G|FLT1_ENST00000539099.1_Silent_p.G401G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	401	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|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)	TTGTATAATTCCCTGCATCCT	0.393000													41	103					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35965630	35965630	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:35965630T>C	ENST00000490799.1	-	5	865	c.512A>G	c.(511-513)cAa>cGa	p.Q171R	SLC26A8_ENST00000355574.2_Missense_Mutation_p.Q171R|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Q171R	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	171					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATGACCAGTTGACCGTTGTT	0.463000													84	101					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925477	6925477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:6925477G>A	ENST00000409757.4	+	2	485	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E121K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	121						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CACCGAGCGGGAACAGAGCGT	0.632000													9	320					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30829437	30829437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:30829437G>A	ENST00000256079.4	-	6	1062	c.724C>T	c.(724-726)Cct>Tct	p.P242S	IPO8_ENST00000544829.1_Missense_Mutation_p.P37S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	242					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTACAGGAGGAACGGTCCTG	0.413000													11	36					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36994276	36994276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:36994276G>A	ENST00000379242.3	+	7	829	c.527G>A	c.(526-528)gGg>gAg	p.G176E	VIT_ENST00000404084.1_Missense_Mutation_p.G154E|VIT_ENST00000379241.3_Missense_Mutation_p.G176E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.G176E|VIT_ENST00000389975.3_Missense_Mutation_p.G176E	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	176						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTATTCCAGGGACAACTGCA	0.507000													5	72					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17205825	17205825	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:17205825G>A	ENST00000285681.2	+	17	2521	c.2152G>A	c.(2152-2154)Gcg>Acg	p.A718T	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.A718T|USP25_ENST00000285679.6_Missense_Mutation_p.A718T			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	718					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AAAGCTTTTAGCGTCTCAGAA	0.338000													13	61					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11537035	11537035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11537035C>T	ENST00000356392.4	-	7	979	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CCDC151_ENST00000591179.1_Missense_Mutation_p.E238K|CCDC151_ENST00000586836.1_Missense_Mutation_p.E107K|CCDC151_ENST00000545100.1_Missense_Mutation_p.E244K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	298										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						ATGTAGCGTTCCCGCTTCTTG	0.627000													23	54					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023776	6023776	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6023776G>A	ENST00000330728.4	-	1	648	c.603C>T	c.(601-603)gtC>gtT	p.V201V		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAACAAAGACCACGGCCC	0.493000													15	24					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072875	17072875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:17072875C>T	ENST00000359963.3	-	1	825	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	189					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				CTTGATAGCCCAGCAGGCGTG	0.622000													53	85					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23640578	23640578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:23640578G>A	ENST00000261584.4	-	6	2685	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	845					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCAGAAGCAGGAAGCTCTGCT	0.383000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					27	72					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136319625	136319625	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136319625G>T	ENST00000371929.3	+	24	3577	c.3133G>T	c.(3133-3135)Ggc>Tgc	p.G1045C	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1014C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1045C|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1045	TSP type-1 7.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCGACCAAGGCCAGGACGT	0.657000													5	101					0.014758	0.014773	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814517	242814517	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242814517C>T	ENST00000343216.3	+	2	838	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	270						integral to membrane											ACCCCCTCTTCCACGGCCCCG	0.672000													58	108					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41201788	41201788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41201788C>T	ENST00000263413.3	-	3	436	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C6_ENST00000337836.5_Missense_Mutation_p.E58K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	58	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAAAGTTTTCCTGGTAGTAC	0.408000													45	123					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72699522	72699522	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:72699522C>T	ENST00000341689.3	+	4	637	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	195						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GACCTATTATCTTAACTGGTG	0.488000													45	109					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760924	6760924	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6760924C>T	ENST00000245908.6	-	3	413	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	48	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCAGGAGATCACGGGGTTGC	0.642000													20	54					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113304903	113304903	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:113304903C>T	ENST00000297405.5	-	55	8895	c.8651G>A	c.(8650-8652)gGa>gAa	p.G2884E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2814E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2844E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2715E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2884	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTGTTCTTCCATAAATTGG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	60					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643343	138643343	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:138643343C>T	ENST00000394800.2	+	6	788	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MATR3_ENST00000361059.2_Missense_Mutation_p.S80F|MATR3_ENST00000502929.1_Missense_Mutation_p.S80F|MATR3_ENST00000394805.3_Missense_Mutation_p.S80F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.S80F|MATR3_ENST00000509990.1_Missense_Mutation_p.S80F			P43243	MATR3_HUMAN	matrin 3	80						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTACTTCTTCCCATAATTTG	0.433000													6	147					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762184	2762184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:2762184C>T	ENST00000320876.6	+	36	4854	c.4516C>T	c.(4516-4518)Cgc>Tgc	p.R1506C	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1506C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1506					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCAAATGTTCGCTCAGTTGC	0.378000													61	77					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860076	5860076	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:5860076G>A	ENST00000327087.8	-	11	1175	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ANO2_ENST00000546188.1_Silent_p.F369F|ANO2_ENST00000356134.5_Silent_p.F369F			Q9NQ90	ANO2_HUMAN	anoctamin 2	373						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGGGATGAGGAATGATGTAT	0.328000													13	21					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757543	53757543	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:53757543C>T	ENST00000288139.3	+	14	1927	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	CACNA1D_ENST00000422281.2_Silent_p.F583F|CACNA1D_ENST00000350061.5_Silent_p.F583F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	583					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGCATATTTCGTCTCTCTTT	0.488000													81	153					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801592	48801592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48801592G>A	ENST00000315396.7	-	11	1817	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	379										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGAGGAGCTGGATATCTGCG	0.612000													23	77					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52999096	52999096	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52999096C>T	ENST00000259803.7	-	3	313	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	34						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGGCCACTCCTGGAACCAGT	0.488000													48	147					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931395	66931395	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:66931395A>G	ENST00000374690.3	+	4	2561	c.2037A>G	c.(2035-2037)gaA>gaG	p.E679E	AR_ENST00000396043.2_Silent_p.E147E|AR_ENST00000396044.3_Silent_p.E679E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	678	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATGTCCTGGAAGCCATTGAGC	0.537000									Androgen Insensitivity Syndrome				16	6					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101628	25101628	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:25101628C>T	ENST00000216341.4	-	3	347	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.E115K|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Intron|GZMB_ENST00000382540.1_Intron|GZMB_ENST00000415355.3_Missense_Mutation_p.E69K			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	81	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGCTCCTGTTCTTTGATATTG	0.517000													14	92					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766464	11766464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11766464G>A	ENST00000294485.5	+	2	284	c.149G>A	c.(148-150)tGg>tAg	p.W50*		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCAGCGCTGTGGACGCCTCAG	0.726000													19	40					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815719	152815719	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:152815719G>A	ENST00000370186.1	+	10	2082	c.1756G>A	c.(1756-1758)Ggg>Agg	p.G586R	ATP2B3_ENST00000370181.2_Missense_Mutation_p.G586R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G600R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G600R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G586R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G600R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	600					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGCAAGGGGGCCTCAGA	0.547000													10	76					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421040	53421040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:53421040G>A	ENST00000377942.3	-	1	1735	c.1532C>T	c.(1531-1533)cCg>cTg	p.P511L	PCDH8_ENST00000338862.4_Missense_Mutation_p.P511L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	511	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGCCTGGCGGGTTGTTCTC	0.731000													4	15					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37149872	37149872	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:37149872C>T	ENST00000331299.5	-	10	1406	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SLC25A21_ENST00000555449.1_Silent_p.E297E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	297					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATCACCAGTTCTCTTGAAGCC	0.413000													50	104					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108690227G>A	ENST00000232603.5	-	25	2582	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_ENST00000483760.1_Missense_Mutation_p.P813S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	834					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						TGATGCTCAGGAAAAAAATAC	0.403000													36	67					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862331	8862331	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:8862331G>A	ENST00000338037.6	+	32	3513	c.3486G>A	c.(3484-3486)ttG>ttA	p.L1162L	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1162					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCGAGATTTTGGAATTCGTGC	0.488000													105	192					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33675852	33675852	+	RNA	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33675852T>A	ENST00000532280.1	-	0	1645					NR_023917.1																						TTTTGTCCTTTTTTAGCATCT	0.383000													44	82					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562862	111562862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:111562862G>A	ENST00000389811.4	+	9	867	c.643G>A	c.(643-645)Gga>Aga	p.G215R	ACOXL_ENST00000439055.1_Missense_Mutation_p.G215R|ACOXL_ENST00000340561.4_Missense_Mutation_p.G215R			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	215					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGCTCCAGATGGACAGTACCA	0.507000													54	130					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150300881	150300881	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:150300881C>T	ENST00000324862.6	+	4	544	c.379C>T	c.(379-381)Cct>Tct	p.P127S	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	127					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AGAGGTGATCCCTGGGCCTCC	0.488000													115	160					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242524138	242524138	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242524138G>A	ENST00000407315.1	-	6	2048	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	THAP4_ENST00000402545.1_Silent_p.I154I|THAP4_ENST00000402136.1_Silent_p.I127I	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	539							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ACTTCCGGGTGATCTGAGCAG	0.488000													113	229					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266945	18266945	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:18266945C>T	ENST00000377369.2	+	5	1139	c.866C>T	c.(865-867)tCt>tTt	p.S289F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S289F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S289F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S155F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	289					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGGACTATTCTAATTTCTCT	0.373000													5	167					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37924012	37924012	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37924012G>A	ENST00000199447.4	+	13	1474	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	NME8_ENST00000440017.1_Missense_Mutation_p.E368K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	368	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATATGAAAATGAAGACTATTT	0.303000													24	55					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133587	33133587	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33133587G>A	ENST00000341947.2	-	63	4716	c.4489C>T	c.(4489-4491)Cca>Tca	p.P1497S	COL11A2_ENST00000361917.1_Missense_Mutation_p.P1390S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1471S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1416S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1450S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1437S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1476S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1411S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1497	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCTCGCCTGGGGGACCCTGG	0.622000													40	141					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957800	74957800	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:74957800G>A	ENST00000370891.2	+	25	2520	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N	TNNI3K_ENST00000326637.3_Missense_Mutation_p.S734N|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S835N	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CCTGCATCAAGTAACAGCAGT	0.453000													102	200					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842778	4842778	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:4842778G>A	ENST00000322110.5	+	1	228	c.163G>A	c.(163-165)Gga>Aga	p.G55R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCGTCTCTGGAAATAGCAT	0.493000													124	125					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44453173	44453173	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44453173C>T	ENST00000372557.1	-	4	322	c.115G>A	c.(115-117)Gag>Aag	p.E39K	TNNC2_ENST00000372555.3_Missense_Mutation_p.E54K			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	54	EF-hand 1.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				TCCAGCTCCTCCTTGGTGGGT	0.632000													48	99					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24981429	24981429	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24981429C>T	ENST00000323848.9	+	9	1439	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P370L|SRRM1_ENST00000537199.1_Missense_Mutation_p.257_257insS|SRRM1_ENST00000447431.2_Missense_Mutation_p.P375L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	375	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGAAGCCTCCCAAGAGGACA	0.522000													53	101					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36704088	36704088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:36704088C>T	ENST00000280527.2	+	6	1415	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	350	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGACATGTTTCGAATGGACAA	0.448000													66	137					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956522	188956522	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:188956522G>A	ENST00000345063.3	+	4	470	c.302_splice	c.e4-1	p.K101_splice	TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Splice_Site_p.K101_splice	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	101										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATTCCTATAGGATAGACCACT	0.398000													38	77					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54855949	54855949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54855949C>T	ENST00000552397.1	-	6	1232	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GTSF1_ENST00000305879.5_Nonsense_Mutation_p.W112*|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	112							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TGGTCTGCTCCCACAAATCTG	0.408000													21	54					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98509803	98509803	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:98509803C>T	ENST00000359863.4	+	18	2375	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S	TRRAP_ENST00000355540.3_Silent_p.S722S|TRRAP_ENST00000446306.3_Silent_p.S721S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCTGTCTCCCTCTTTGCAG	0.458000													41	181					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479061	6479061	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6479061G>A	ENST00000381480.2	-	5	295	c.183C>T	c.(181-183)ccC>ccT	p.P61P	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Silent_p.P17P	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	61	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CGGGGCTGGGGGGCTCCCTGG	0.627000													42	68					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5787325	5787325	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5787325G>A	ENST00000309061.7	-	7	1356	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	DUS3L_ENST00000320699.8_Silent_p.I178I	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	420					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCCACGGACGATCTGCTGGA	0.657000													15	31					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101929689	101929689	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101929689G>A	ENST00000348070.1	-	10	1286	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PCSK6_ENST00000398181.2_Silent_p.I429I|PCSK6_ENST00000344273.2_Silent_p.I429I|PCSK6_ENST00000358417.3_Silent_p.I429I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.I264I	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	430	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGCCAAGGCGATGATGCCCG	0.488000													30	96					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141214161	141214161	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141214161G>A	ENST00000389484.3	-	62	10797	c.9826C>T	c.(9826-9828)Ctc>Ttc	p.L3276F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3276					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)		ATCATGCAGAGATGTTTGGAG	0.383000										TSP Lung(27;0.18)			48	66					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275729	152275729	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152275729C>T	ENST00000368799.1	-	3	11668	c.11633G>A	c.(11632-11634)aGg>aAg	p.R3878K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3878	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGATCGCCTCTCAGAGTC	0.587000									Ichthyosis				21	349					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107170347G>A	ENST00000390633.2	-	0	81																											CCACAAAGAGGAACCTCCAGG	0.507000													39	81					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48877104	48877104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48877104C>T	ENST00000314014.2	+	2	156	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Nonsense_Mutation_p.Q9*	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	9										endometrium(1)|large_intestine(4)	5						CTGCCAGGATCAGGAACAAAA	0.473000													16	47					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579847	1579847	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1579847G>A	ENST00000572621.1	-	15	2605	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	PRPF8_ENST00000304992.6_Silent_p.T780T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	780						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATAGAGCCGGGTGAGGCGGC	0.592000													151	344					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395193	160395193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:160395193G>A	ENST00000320767.2	+	1	246	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	20					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTTCTTTTGGGACTTGACTCA	0.393000													5	88					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773627	41773627	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41773627G>A	ENST00000394253.3	-	3	1424	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	USP49_ENST00000297229.2_Silent_p.F365F|USP49_ENST00000373010.1_Silent_p.F365F|USP49_ENST00000373006.1_Silent_p.F365F|USP49_ENST00000373009.3_Silent_p.F365F			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	365					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACATGACTCGGAAGAGGGTGT	0.602000													7	160					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505636	27505636	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27505636G>A	ENST00000296098.4	+	1	307	c.37G>A	c.(37-39)Gat>Aat	p.D13N	TRIM54_ENST00000380075.2_Missense_Mutation_p.D13N	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	13					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTAGGGGATGCACACAG	0.592000													118	207					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478104	88478104	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:88478104T>A	ENST00000267549.3	+	2	1471	c.913T>A	c.(913-915)Tta>Ata	p.L305I	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	305					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTGGAATATATTAAAATTCTG	0.343000													23	63					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108781	93108781	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:93108781G>A	ENST00000359558.2	-	5	443	c.144C>T	c.(142-144)acC>acT	p.T48T	CALCR_ENST00000394441.1_Silent_p.T30T|CALCR_ENST00000421592.1_Silent_p.T30T|CALCR_ENST00000360249.4_Silent_p.T30T|CALCR_ENST00000426151.1_Silent_p.T30T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	30					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGTTGGATAGGTTTGATTTG	0.413000													72	231					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151949088	151949088	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151949088G>A	ENST00000355193.2	-	11	1775	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	KMT2C_ENST00000262189.6_Silent_p.H519H					lysine (K)-specific methyltransferase 2C																		CAGCTCCCAGGTGTTTACAAT	0.403000													27	79					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096152	144096152	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:144096152G>A	ENST00000467773.1	-	8	1359	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	NOBOX_ENST00000223140.5_Missense_Mutation_p.P337S|NOBOX_ENST00000483238.1_Missense_Mutation_p.P422S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	454	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGGGGGAAAGGAAGATCGGCC	0.637000													18	21					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52531657	52531657	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52531657G>A	ENST00000242839.4	-	9	2598	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	ATP7B_ENST00000417240.2_Silent_p.I86I|ATP7B_ENST00000448424.2_Silent_p.I736I|ATP7B_ENST00000344297.5_Silent_p.I652I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.I703I|ATP7B_ENST00000418097.2_Silent_p.I814I|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	814					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCACCTGATGATTAAATTGT	0.438000									Wilson disease				41	94					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802838	159802838	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159802838C>T	ENST00000289707.5	+	3	689	c.540C>T	c.(538-540)ttC>ttT	p.F180F	SLAMF8_ENST00000368104.4_Silent_p.F71F|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	180	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACAGCCTCTTCACAGACGGAC	0.542000													81	110					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261725	19261725	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:19261725G>A	ENST00000328041.6	+	2	462	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	89						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAACTGCACCGAACCAGGTAA	0.507000													32	52					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624036	128624036	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:128624036C>T	ENST00000371122.4	-	15	2078		c.e15+1		SMARCA1_ENST00000371121.3_Splice_Site|SMARCA1_ENST00000371123.1_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGTATAAATACCTTGTTGTAT	0.313000													29	17					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368744	27368744	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:27368744G>A	ENST00000244576.4	+	3	1140	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TAGTGAATGTGGAAAAGCCTT	0.413000													62	75					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15307268	15307268	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:15307268T>A	ENST00000281513.5	-	52	7045	c.7020A>T	c.(7018-7020)gaA>gaT	p.E2340D	NBAS_ENST00000441750.1_Missense_Mutation_p.E2220D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2340										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGGCTTCGGCTTCATGGCCGG	0.637000													38	51					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513136	75513136	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:75513136G>A	ENST00000332272.4	-	3	770	c.591C>T	c.(589-591)atC>atT	p.I197I	CHST6_ENST00000390664.2_Silent_p.I197I|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	197					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCAGGTGCACGATGCGTAGGT	0.682000													10	59					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805887	46805887	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:46805887C>T	ENST00000290295.7	-	1	653	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	23					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GATTCCGCCCCCCTCCCGCTC	0.657000													25	50					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82545171C>T	ENST00000423517.2	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(2)		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						GACATAATTTCGTGGAGTATG	0.408000													37	96					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170176567	170176567	+	Missense_Mutation	SNP	C	C	T	rs141044415		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:170176567C>T	ENST00000588451.1	+	15	1642	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	C6orf70_ENST00000392095.4_Missense_Mutation_p.R387C|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R513C			Q5T6L9	CF070_HUMAN		513						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CCAGCTTCTCCGTGAGCTCTG	0.602000													21	27					0	0	1	0	0
CRLS1	54675	broad.mit.edu	37	20	6015147	6015147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:6015147C>T	ENST00000378863.4	+	6	924	c.767C>T	c.(766-768)tCt>tTt	p.S256F	CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000464921.1_3'UTR|CRLS1_ENST00000378868.3_Missense_Mutation_p.S157F	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	256					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						GTGGCAGCTTCTTTGGCAGCT	0.363000													45	86					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931505	23931505	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:23931505G>A	ENST00000331837.4	-	1	945	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	287	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCAGGCCTGGGGGTCTTTCTT	0.602000									Prader-Willi syndrome				5	67					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64469845	64469845	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:64469845C>T	ENST00000358025.3	+	30	4424	c.4194C>T	c.(4192-4194)tcC>tcT	p.S1398S	SYNE2_ENST00000344113.4_Silent_p.S1398S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S1398S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1398					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGACACCTCCTGTGAAAACC	0.398000													6	100					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207834013	207834013	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:207834013C>T	ENST00000272852.3	+	9	1024	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	326					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AAGCTCAGATCCAGCCCACCT	0.527000													29	43					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843474	57843474	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:57843474G>A	ENST00000309668.2	+	2	855	c.728G>A	c.(727-729)gGg>gAg	p.G243E	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	243					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCCAAGGAGGGTCCAGGATG	0.577000													28	68					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205362	56205362	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56205362G>A	ENST00000361673.3	-	5	2270	c.2057C>T	c.(2056-2058)aCc>aTc	p.T686I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	686							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATTGTTGTGGTCCCAGTGAA	0.502000													28	56					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666774	11666774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11666774C>T	ENST00000262442.3	+	36	7081	c.7013C>T	c.(7012-7014)cCc>cTc	p.P2338L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2338L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2338					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCATTCCCATCCCAGAG	0.498000													41	108					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7787922	7787922	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:7787922G>A	ENST00000420658.1	-	12	1801	c.1530_splice	c.e12+1	p.S510_splice	AFAP1_ENST00000358461.2_Splice_Site_p.S510_splice|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Splice_Site_p.S510_splice|AFAP1_ENST00000360265.4_Splice_Site_p.S510_splice	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	510						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGCACTCACCGAGCCGTTGAT	0.512000													40	81					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637937	7637937	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7637937C>T	ENST00000359156.4	-	11	2736	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	CD163_ENST00000432237.2_Missense_Mutation_p.G845E|CD163_ENST00000396620.3_Missense_Mutation_p.G878E|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G833E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	845	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						GCCCCAAGCTCCATTGTAAAA	0.512000													46	127					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48057353	48057353	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48057353G>A	ENST00000005386.3	-	17	2048	c.1933C>T	c.(1933-1935)Cac>Tac	p.H645Y	RPAP3_ENST00000432584.3_Missense_Mutation_p.H486Y|RPAP3_ENST00000380650.4_Missense_Mutation_p.H611Y|RPAP3_ENST00000548211.1_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	645							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTGTCTATGTGATTAAATAAT	0.299000													24	49					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656262	34656262	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:34656262G>A	ENST00000314891.6	-	5	781	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTGCCCTCAGGAAAGAATAGC	0.458000													12	234					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71886031	71886031	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71886031C>T	ENST00000258104.3	+	43	4939	c.4662C>T	c.(4660-4662)ctC>ctT	p.L1554L	DYSF_ENST00000409651.1_Silent_p.L1586L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.L1572L|DYSF_ENST00000394120.2_Silent_p.L1555L|DYSF_ENST00000429174.2_Silent_p.L1575L|DYSF_ENST00000409366.1_Silent_p.L1576L|DYSF_ENST00000409744.1_Silent_p.L1562L|DYSF_ENST00000409582.3_Silent_p.L1592L|DYSF_ENST00000409762.1_Silent_p.L1571L|DYSF_ENST00000413539.2_Silent_p.L1585L|DYSF_ENST00000410020.3_Silent_p.L1593L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1554						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTATCCCCTCCCAGAAGACC	0.507000													60	122					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184102390	184102390	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:184102390C>T	ENST00000204604.1	+	13	1752	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CHRD_ENST00000450923.1_Silent_p.F502F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.F132F|CHRD_ENST00000348986.3_Silent_p.F462F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	502	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGAGCTCTTCCTGAACGTGG	0.647000													18	182					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3670729	3670729	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3670729G>A	ENST00000294600.2	+	2	450	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	122										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCCAAAATGGAACTTCGAA	0.602000													6	256					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654547	31654547	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31654547G>A	ENST00000340345.4	-	1	729	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	235	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity	p.P235H(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AAAGGTACTGGGTATATAGCT	0.428000													58	104					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303947	115303947	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:115303947G>A	ENST00000371906.4	+	3	604	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	138					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCACCTGCATGAGTGTTGATA	0.403000													137	53					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456429	102456429	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102456429C>T	ENST00000413150.2	+	10	977	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R308C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R288C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	308					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCATATAGATCGTACCAGGAA	0.403000													7	88					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57808831	57808831	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:57808831T>G	ENST00000262291.4	+	2	334	c.24T>G	c.(22-24)tgT>tgG	p.C8W	VMP1_ENST00000537567.1_5'UTR|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.C8W|VMP1_ENST00000536180.1_5'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	8					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GAAAAAATTGTGACCAGAGAC	0.363000													20	74					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109614056	109614056	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109614056C>T	ENST00000338432.7	+	9	1544	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	ACACB_ENST00000377848.3_Silent_p.I475I|ACACB_ENST00000377854.5_Silent_p.I475I|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	475	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACTTCCCGATCCTTTTCAGAC	0.468000													24	225					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67914622	67914622	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67914622C>T	ENST00000358933.5	+	18	2499	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	754					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.R754C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCCCTGTCCCGTGGTTTTGG	0.647000													114	148					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328861	57328861	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57328861T>G	ENST00000326441.9	-	10	1312	c.949A>C	c.(949-951)Aaa>Caa	p.K317Q	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K191Q|PEG3_ENST00000598410.1_Missense_Mutation_p.K193Q|PEG3_ENST00000423103.2_Missense_Mutation_p.K317Q|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	317					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGATGAATTTTTCCATTATC	0.468000													29	90					0	0	1	0	0
TRBV27	28560	broad.mit.edu	37	7	142423617	142423617	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142423617G>A	ENST00000506718.1	+	0	625				TRBV27_ENST00000390399.3_RNA																							AAGAGAAGAGGAATTTCCCCC	0.512000													31	98					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126771126	126771126	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:126771126C>T	ENST00000274473.6	+	17	2316	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	MEGF10_ENST00000503335.2_Silent_p.P683P	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	683	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTGTAACCCCATTGACAGAT	0.423000													19	28					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839998	122839998	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122839998C>T	ENST00000194130.2	-	1	42	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	1						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGAAGAATTTCATTGTCCTGA	0.423000													10	61					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004887	248004887	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004887G>A	ENST00000355784.2	-	1	367	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGAGGAATACGAAGAAGTAGA	0.592000													11	33					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543603	28543603	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28543603C>T	ENST00000452236.2	-	3	1496	c.879G>A	c.(877-879)ggG>ggA	p.G293G		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	293					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TATCTGTTTCCCCATTTACAG	0.408000													12	342					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844924	18844924	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:18844924C>T	ENST00000412938.1	+	0	3174																											CGTTCACGTCCATCTCGCTCA	0.572000													16	152					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31927102	31927102	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31927102C>T	ENST00000432498.1	+	4	718	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	SFI1_ENST00000400288.2_Missense_Mutation_p.P109S|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	109					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AAGAGTATTTCCCTCTAAAGC	0.318000													51	99					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452885	100452885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:100452885G>A	ENST00000279907.7	-	14	2382	c.2170C>T	c.(2170-2172)Ctt>Ttt	p.L724F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L374F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	724										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CAAATGGAAAGAGGGAATGAG	0.388000													13	149					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262668	39262668	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39262668G>A	ENST00000407418.3	-	5	908	c.785C>T	c.(784-786)gCc>gTc	p.A262V	CBX6_ENST00000216083.6_Missense_Mutation_p.A244V			O95503	CBX6_HUMAN	chromobox homolog 6	262					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCGGGGGCGGCCAGAAGTAG	0.741000													14	20					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85770808	85770808	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:85770808G>A	ENST00000306434.3	+	9	1224	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K		NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	367					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGATCTGAAGAAGCCAATTT	0.393000													5	24					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068490	103068490	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103068490G>A	ENST00000264260.2	+	12	2238	c.1649G>A	c.(1648-1650)aGg>aAg	p.R550K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R408K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	550	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCCAATTCTAGGTTCTGGGCC	0.463000													11	238					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28848891	28848891	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:28848891G>A	ENST00000357727.2	+	9	1504	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CREB5_ENST00000396298.2_Missense_Mutation_p.E233K|CREB5_ENST00000409603.1_Missense_Mutation_p.E339K|CREB5_ENST00000396300.2_Missense_Mutation_p.E365K|CREB5_ENST00000396299.2_Missense_Mutation_p.E339K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	372					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGTGGTAGACGAGGATCCGGA	0.607000													6	113					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097668	167097668	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167097668G>A	ENST00000361200.2	+	6	3466	c.3300G>A	c.(3298-3300)gaG>gaA	p.E1100E	DUSP27_ENST00000443333.1_Silent_p.E1100E|DUSP27_ENST00000271385.5_Silent_p.E1100E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1100					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGGGAGAGAAAGAGAGGA	0.498000													16	61					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455891	138455891	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138455891C>T	ENST00000310018.2	-	3	384	c.102G>A	c.(100-102)ttG>ttA	p.L34L	ATP6V0A4_ENST00000393054.1_Silent_p.L34L|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.L34L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	34					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGAACTGAACCAATCCGAGCT	0.468000													29	563					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984154	2984154	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2984154C>T	ENST00000396946.4	-	5	779	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	126					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCGTGAGGCCCTCGTGGCCT	0.612000			Mis		DLBCL								29	85					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34662922	34662922	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34662922G>A	ENST00000488417.1	+	2	537	c.417G>A	c.(415-417)gaG>gaA	p.E139E	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	0							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGGTCGAAGAGAGTTCTGGGG	0.582000													9	11					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500806	44500806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44500806G>A	ENST00000270014.2	+	5	925	c.797G>A	c.(796-798)gGg>gAg	p.G266E	ZNF155_ENST00000407951.2_Missense_Mutation_p.G277E|ZNF155_ENST00000590615.1_Missense_Mutation_p.G266E	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	266						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAGGCATGTGGGAAGGCCTTC	0.393000													78	133					0	0	1	0	0
DENR	8562	broad.mit.edu	37	12	123252104	123252104	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:123252104G>A	ENST00000280557.6	+	6	551	c.365G>A	c.(364-366)aGa>aAa	p.R122K	DENR_ENST00000455982.2_Missense_Mutation_p.R122K	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	122	SUI1.						protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		AAAATTCCCAGAGCAAAGAAG	0.348000													4	21					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38500931	38500931	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38500931G>A	ENST00000356264.2	-	11	1184	c.969C>T	c.(967-969)ttC>ttT	p.F323F	AMPH_ENST00000325590.5_Silent_p.F323F|AMPH_ENST00000428293.2_Silent_p.F323F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	323					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCCTCAAAGAAACTGATGA	0.483000													40	119					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690661	33690661	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33690661G>A	ENST00000451316.1	-	7	1604	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	IP6K3_ENST00000293756.4_Missense_Mutation_p.P357S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	357					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGACCACCGGGAGAGCTACCG	0.577000													50	156					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277029	186277029	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186277029G>A	ENST00000445192.2	+	7	2223	c.2178G>A	c.(2176-2178)aaG>aaA	p.K726K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K685K|PRG4_ENST00000367485.4_Silent_p.K633K|PRG4_ENST00000367486.3_Silent_p.K683K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	726	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						CTACTCCCAAGAAGCCTGCCC	0.587000													101	305					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11541596	11541596	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11541596C>T	ENST00000356392.4	-	3	454	c.366_splice	c.e3-1	p.G123_splice	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Splice_Site_p.G69_splice	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	123										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTCTCATCTCCCTGCAAGGAG	0.587000													59	114					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226860	43226860	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:43226860G>A	ENST00000259750.4	+	11	1184	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	TTBK1_ENST00000304139.5_Silent_p.Q316Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	367						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGTGACCAGGAGAATGCAC	0.667000													16	173					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323152	31323152	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31323152C>T	ENST00000265071.2	+	12	2375	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	704					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCGACGGACTCCAACAGCTCG	0.522000													35	55					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72277960	72277960	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72277960G>A	ENST00000579490.1	+	1	310	c.175G>A	c.(175-177)Gag>Aag	p.E59K	DNAI2_ENST00000311014.6_Missense_Mutation_p.E2K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E2K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E2K|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	2					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.E2K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGCACCATGGAGATTGTGTA	0.627000									Kartagener syndrome				43	146					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229922	20229922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:20229922G>A	ENST00000043402.7	-	2	1172	c.734C>T	c.(733-735)gCc>gTc	p.A245V		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	245					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGGGGCCAGGGCCTCAGTGGG	0.637000													17	36					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110885658	110885658	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110885658G>A	ENST00000265171.5	+	10	1985	c.1540G>A	c.(1540-1542)Gtt>Att	p.V514I	EGF_ENST00000509793.1_Missense_Mutation_p.V472I|EGF_ENST00000503392.1_Missense_Mutation_p.V514I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	514					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GATGGGAATGGTTTATGCCCT	0.408000													8	204					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147451760	147451760	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147451760C>T	ENST00000359874.3	+	4	332	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	SPINK5_ENST00000398454.1_Missense_Mutation_p.P87S|SPINK5_ENST00000256084.7_Missense_Mutation_p.P87S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	87					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGAGCTCCCAAGGCTAC	0.403000													37	79					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155596355	155596355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:155596355C>T	ENST00000297261.2	-	3	778	c.628G>A	c.(628-630)Ggc>Agc	p.G210S		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	210					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGTGCCGCCCTGCTCCAGG	0.672000													23	34					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49405915	49405915	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49405915G>A	ENST00000418115.1	-	3	607	c.223C>T	c.(223-225)Cca>Tca	p.P75S	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.P75S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	75					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCGGTATCTGGGTAGGAGAGG	0.498000													76	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179398942C>T	ENST00000589042.1	-	358	102624	c.102400G>A	c.(102400-102402)Gaa>Aaa	p.E34134K	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32493	Ig-like 151.|Ser-rich.						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)			GGGCCAATTTCAATGGATGCC	0.443000													55	122					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71025384	71025384	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:71025384C>G	ENST00000354624.5	+	17	2549	c.2416C>G	c.(2416-2418)Ctg>Gtg	p.L806V	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	806					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTGCAGCAGCTGGGCCTGGA	0.682000													32	106					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86368203	86368203	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:86368203C>T	ENST00000376371.2	-	9	1210	c.810G>A	c.(808-810)caG>caA	p.Q270Q	GKAP1_ENST00000376365.3_Silent_p.Q219Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	270					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTTTCAGCTTCTGGATTTCAG	0.323000													39	68					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579377	82579377	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82579377G>A	ENST00000423517.2	-	6	10864	c.10527C>T	c.(10525-10527)ccC>ccT	p.P3509P	PCLO_ENST00000333891.8_Silent_p.P3509P|PCLO_ENST00000437081.1_Silent_p.P229P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3440					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						CTTTGGAAAGGGGTTTGGTCT	0.478000													26	96					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158824632	158824632	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:158824632G>A	ENST00000262178.2	-	11	1283	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	VIPR2_ENST00000402066.1_Silent_p.F507F|VIPR2_ENST00000377633.3_Silent_p.F350F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	366					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CACCTACCTGGAACGACCCGA	0.597000													37	166					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937295	6937295	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6937295G>A	ENST00000312053.4	+	19	2460	c.2423G>A	c.(2422-2424)gGc>gAc	p.G808D	EMR1_ENST00000381407.5_Missense_Mutation_p.G667D|EMR1_ENST00000450315.3_Missense_Mutation_p.G631D|EMR1_ENST00000250572.8_Missense_Mutation_p.G743D|EMR1_ENST00000381404.4_Missense_Mutation_p.G789D	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	808					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					TTCATCCTGGGCTGCTCCTGG	0.552000													5	149					0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471804	39471804	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39471804G>A	ENST00000334202.3	-	1	143	c.99C>T	c.(97-99)ggC>ggT	p.G33G		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	33						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaggagccgcagcagc	0.682000													15	23					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51752070	51752070	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51752070T>G	ENST00000395052.3	+	6	2795	c.2561T>G	c.(2560-2562)tTt>tGt	p.F854C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.F576C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	854					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCTCCCAGTTTGTCCCCACT	0.602000													93	211					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961076	133961076	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:133961076G>A	ENST00000361069.4	+	25	4329	c.4196G>A	c.(4195-4197)aGa>aAa	p.R1399K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1399	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGAAGGGCAGAGAAGCAGAG	0.622000													18	50					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178905	107178905	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107178905G>A	ENST00000390634.2	-	0	347																											GGTGTCCTTGGAGATGGTGAG	0.517000													65	100					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227271	75227271	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:75227271G>A	ENST00000342232.4	-	2	1004	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	322					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCCGTCAGGAAACACGGTA	0.463000													75	160					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14212044	14212044	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14212044A>T	ENST00000285021.7	-	3	520	c.306T>A	c.(304-306)ttT>ttA	p.F102L	XPC_ENST00000449060.2_Missense_Mutation_p.F102L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	102	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			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						GGTCACTTGGAAAGTCCCTGT	0.423000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	179					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520525	129520525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:129520525C>T	ENST00000305031.4	+	3	2048	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	564						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGCCTATCTTCAGCAGTTGTT	0.443000													4	75					0	0	1	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079460	38079460	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38079460C>G	ENST00000394169.1	-	5	1725	c.231G>C	c.(229-231)caG>caC	p.Q77H	ORMDL3_ENST00000584220.1_Missense_Mutation_p.Q61H|ORMDL3_ENST00000579695.1_Missense_Mutation_p.Q77H|ORMDL3_ENST00000304046.2_Missense_Mutation_p.Q77H			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	77					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TCGCCTTGCCCTGGTCCGGGG	0.552000													104	175					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627165	108627165	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:108627165C>T	ENST00000264047.2	+	9	1867	c.1591C>T	c.(1591-1593)Ctt>Ttt	p.L531F	SLC5A7_ENST00000540517.1_Missense_Mutation_p.L426F|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L531F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	531					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TAAGACAATTCTTGTCAAAAA	0.378000													23	48					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142389935	142389935	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:142389935C>T	ENST00000337777.3	+	4	548	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLS1_ENST00000497002.1_Missense_Mutation_p.S112F|PLS1_ENST00000457734.2_Missense_Mutation_p.S112F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	112	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCAACTATTTCCAGTGAGGGC	0.338000													101	146					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55142736	55142736	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55142736C>T	ENST00000396331.1	+	4	406	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Missense_Mutation_p.P17S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P17S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P17S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P17S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.P17S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P53S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P17S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	17					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGTCTGGGCCCCAGGACCCA	0.677000										HNSCC(37;0.09)			54	116					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56636848	56636848	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56636848C>T	ENST00000389934.3	-	31	4470	c.4353G>A	c.(4351-4353)agG>agA	p.R1451R	TEX14_ENST00000349033.5_Silent_p.R1411R|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000240361.8_Silent_p.R1457R	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1457						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCTGATTTCCTTCTTTCTG	0.353000													16	460					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255981	137255981	+	Silent	SNP	G	G	A	rs146866035	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:137255981G>A	ENST00000453654.1	-	19	1526	c.987C>T	c.(985-987)ttC>ttT	p.F329F	DGKI_ENST00000446122.1_Silent_p.F629F|DGKI_ENST00000424189.2_Silent_p.F629F|DGKI_ENST00000288490.5_Silent_p.F629F			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	629					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTGAGGTTCGAAATCATGGT	0.383000													14	71					0	0	1	0	0
CT47A6	728062	broad.mit.edu	37	X	120094341	120094341	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:120094341C>T	ENST00000443600.2	-	1	996	c.742_splice	c.e1+1	p.E248_splice	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	248										large_intestine(1)|lung(4)	5						CGTTCCTTACCCTCTGGGGCC	0.682000													216	80					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154437848	154437848	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154437848C>T	ENST00000368485.3	+	10	1836	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	IL6R_ENST00000344086.4_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	467					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTACTTCTTCCCCAGATAGCT	0.557000													8	181					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815986	31815986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31815986G>A	ENST00000446923.2	+	9	3512	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	ZEB1_ENST00000320985.10_Missense_Mutation_p.E1057K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1037K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1058K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E990K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1057	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aaaagaatgtgaaaaaccaca	0.448000													7	10					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777613	123777613	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123777613C>T	ENST00000321355.2	+	1	505	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTGTGATCCATGGAGGTTG	0.468000													69	112					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739210	46739210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:46739210G>A	ENST00000306448.4	-	2	1754	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A214V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	214					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	p.A214V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAAACAAGGCCATTCGTAT	0.413000													6	161					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92147512	92147512	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92147512G>A	ENST00000248633.4	-	4	510	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P139S	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	139					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGGCTTTTGGAAAAACTATT	0.343000													34	154					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348096	89348096	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:89348096G>A	ENST00000301030.4	-	9	5314	c.4854C>T	c.(4852-4854)ccC>ccT	p.P1618P	ANKRD11_ENST00000378330.2_Silent_p.P1618P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1618	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTTGAGCTTGGGGTCTCCGG	0.597000													19	114					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176223	159176223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159176223C>T	ENST00000537147.1	+	3	1837	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	DARC_ENST00000368121.2_Missense_Mutation_p.L334F|DARC_ENST00000368122.2_Missense_Mutation_p.L332F			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	332					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TCTGGACACCCTTGGAAGCAA	0.547000													12	647					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961542	1961542	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1961542G>A	ENST00000217305.2	-	4	417	c.192C>T	c.(190-192)agC>agT	p.S64S	PDYN_ENST00000540134.1_Silent_p.S64S|PDYN_ENST00000539905.1_Silent_p.S64S|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	64					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGACAGAAAGCTCTGGCATC	0.557000													35	91					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159461780	159461780	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:159461780C>T	ENST00000367066.3	-	7	893	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TAGAP_ENST00000326965.6_Missense_Mutation_p.E10K|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.E188K|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	188	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATTCTGTCCTCCTCGTCCTGC	0.507000													6	141					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672472	186672472	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:186672472G>A	ENST00000343098.5	+	17	18706	c.18706G>A	c.(18706-18708)Gaa>Aaa	p.E6236K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6147K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTGGAAGTTGAAAACATCGT	0.393000													34	63					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499624	75499624	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75499624C>T	ENST00000360639.2	+	2	1555	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V	C15orf39_ENST00000394987.4_Missense_Mutation_p.A412V|C15orf39_ENST00000567617.1_Missense_Mutation_p.A412V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	412										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCTGGTGCCTTCCAGAGG	0.632000													52	118					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824560	96824560	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96824560G>A	ENST00000371270.3	-	4	733	c.639C>T	c.(637-639)atC>atT	p.I213I	CYP2C8_ENST00000535898.1_Silent_p.I111I|CYP2C8_ENST00000539050.1_Silent_p.I127I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	213					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCCTTACCTGGATCCATGGGG	0.338000													28	62					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139742612	139742612	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:139742612G>A	ENST00000230993.6	+	7	1030	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R332Q|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R308Q|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R308Q|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R308Q	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	332						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACAGCCCGGATTCCCCCG	0.577000											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	57					0	0	1	0	0
ZNF826P	664701	broad.mit.edu	37	19	20607649	20607649	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:20607649G>A	ENST00000502675.1	-	0	113					NR_036455.1															large_intestine(4)	4						AATACCTGCAGGTCAAAGGGC	0.577000													16	27					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77287543	77287543	+	Missense_Mutation	SNP	G	G	A	rs138427349		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:77287543G>A	ENST00000329101.4	+	10	2815	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.R690Q|NFATC1_ENST00000427363.2_Missense_Mutation_p.R933Q|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.R703Q|NFATC1_ENST00000545796.1_Missense_Mutation_p.R461Q	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	933	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GAAATAATACGAAATGACCTC	0.428000													31	99					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600104	28600104	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:28600104C>T	ENST00000568624.1	-	0	390																											CCACTCACCTCTAGCTCCCTC	0.512000													15	75					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15301702	15301702	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:15301702G>A	ENST00000537676.1	-	7	906	c.834C>T	c.(832-834)ctC>ctT	p.L278L	ASB11_ENST00000480796.1_Silent_p.L299L|ASB11_ENST00000344384.4_Silent_p.L278L|ASB11_ENST00000380470.3_Silent_p.L282L			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	299	SOCS box.				intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					ATGCTCGACCGAGACACTTCC	0.512000													168	35					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257704	41257704	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:41257704C>T	ENST00000307221.4	-	1	426	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	99					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAAAAATTTCTTTAAAAACA	0.383000													8	140					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901651	31901651	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:31901651C>T	ENST00000456570.1	+	4	493	c.438C>T	c.(436-438)taC>taT	p.Y146Y	C2_ENST00000418949.2_Silent_p.Y208Y|C2_ENST00000452323.2_Silent_p.Y85Y|C2_ENST00000442278.2_Silent_p.Y76Y|C2_ENST00000299367.5_Silent_p.Y208Y|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Silent_p.Y146Y			P00751	CFAB_HUMAN	complement factor B	222	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGAACCCTACTCTTATGACT	0.622000													30	112					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:15605946C>T	ENST00000382020.4	+	9	1208	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_ENST00000506802.1_Intron|TUSC3_ENST00000503731.1_Missense_Mutation_p.R334C	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000													69	50					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966213	87966213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:87966213G>A	ENST00000327946.7	-	3	513	c.428C>T	c.(427-429)tCg>tTg	p.S143L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	143						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGTGGTCTCGAAGCCAGTGT	0.612000										Multiple Myeloma(13;0.14)			19	55					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223270	118223270	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:118223270C>T	ENST00000402510.2	-	11	1922	c.1923G>A	c.(1921-1923)atG>atA	p.M641I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	641										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGAATTGTCCATGTTTTCAG	0.463000													3	37					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578076	9578076	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9578076A>T	ENST00000301480.4	-	10	1760	c.1547T>A	c.(1546-1548)tTt>tAt	p.F516Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTAACACTTAAAGGGCTTCTC	0.408000													48	105					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970643	115970643	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115970643C>T	ENST00000251864.2	+	13	1730	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	TDRD1_ENST00000369280.1_Missense_Mutation_p.S526F|TDRD1_ENST00000369281.2_Missense_Mutation_p.S526F|TDRD1_ENST00000422662.1_Missense_Mutation_p.S187F|TDRD1_ENST00000369282.1_Missense_Mutation_p.S526F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	526					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTTCAGGCATCCCTTAGCAAG	0.383000													38	49					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238244836	238244836	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238244836G>A	ENST00000295550.4	-	40	9359	c.8907C>T	c.(8905-8907)gtC>gtT	p.V2969V	COL6A3_ENST00000472056.1_Silent_p.V2362V|COL6A3_ENST00000353578.4_Silent_p.V2763V|COL6A3_ENST00000346358.4_Silent_p.V2769V|COL6A3_ENST00000347401.3_Silent_p.V2768V|COL6A3_ENST00000409809.1_Silent_p.V2763V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2969	Ala-rich.|Nonhelical region.				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)		GTGGCCTAGGGACCTCAGGCT	0.602000													34	77					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105792440	105792440	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105792440C>T	ENST00000353479.5	-	55	4720	c.4430G>A	c.(4429-4431)gGa>gAa	p.G1477E	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1395E	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1477	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTTTGTCTCCTTTTTCTCC	0.552000													11	136					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043033	30043033	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30043033G>A	ENST00000244360.6	-	1	631	c.534C>T	c.(532-534)atC>atT	p.I178I	RNF39_ENST00000376751.3_Silent_p.I178I	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	178						cytoplasm	zinc ion binding										CCATGGTGGGGATGCGCCCCC	0.711000													5	17					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167849417	167849417	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167849417G>A	ENST00000367848.1	-	11	1373	c.876C>T	c.(874-876)atC>atT	p.I292I	ADCY10_ENST00000367851.4_Silent_p.I384I|ADCY10_ENST00000545172.1_Silent_p.I231I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	384					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						TGGCAACACCGATGGATACAG	0.488000													19	19					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991800	85991800	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85991800C>T	ENST00000372105.3	-	4	1776	c.1755G>A	c.(1753-1755)gaG>gaA	p.E585E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	585						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGACAGCTCCTCCAAGCCGT	0.567000													15	38					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50683792G>A	ENST00000442544.2	+	8	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_ENST00000581580.1_Missense_Mutation_p.R98Q|DCC_ENST00000412726.1_Missense_Mutation_p.R291Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	443	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R443Q(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527000													91	153					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130914193	130914193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130914193G>A	ENST00000540948.1	+	4	437	c.364G>A	c.(364-366)Gga>Aga	p.G122R	LCN2_ENST00000373017.1_Missense_Mutation_p.G122R|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.G122R|LCN2_ENST00000372998.1_Missense_Mutation_p.G124R|LCN2_ENST00000373013.2_Missense_Mutation_p.G124R			P80188	NGAL_HUMAN	lipocalin 2	122					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AGGTTACCCTGGATTAACGAG	0.562000													65	105					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817066	2817066	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2817066C>T	ENST00000301740.8	+	11	7086	c.6537C>T	c.(6535-6537)tcC>tcT	p.S2179S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2179	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGCTCAGTCCAGGATTGCAC	0.577000													39	91					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656722	40656722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:40656722C>T	ENST00000406785.1	-	2	888	c.699G>A	c.(697-699)tgG>tgA	p.W233*	SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.W233*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	233					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)	GCAAACCTTCCCAGACCTCCA	0.443000													39	60					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151531	105151531	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:105151531G>A	ENST00000303694.5	+	3	1448	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CHST11_ENST00000549260.1_Missense_Mutation_p.D332N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	337					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTACAAACTCGATTTTTTAAT	0.393000													28	65					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881341	64881341	+	Missense_Mutation	SNP	C	C	T	rs150302406		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:64881341C>T	ENST00000533854.1	+	6	1049	c.812C>T	c.(811-813)tCc>tTc	p.S271F	CACNG5_ENST00000307139.3_Missense_Mutation_p.S271F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	271				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GATCAGATGTCCTCTTCACCC	0.647000													36	107					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604724	160604724	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:160604724C>T	ENST00000259050.3	+	5	1045	c.923C>T	c.(922-924)tCa>tTa	p.S308L	MARCH7_ENST00000539065.1_Missense_Mutation_p.S252L|MARCH7_ENST00000409591.1_Missense_Mutation_p.S270L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S308L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	308	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AATACAAGATCATTGAATTCT	0.418000													31	58					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839507	19839507	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:19839507C>T	ENST00000405640.1	-	2	946	c.278G>A	c.(277-279)aGg>aAg	p.R93K	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.R93K|C22orf29_ENST00000407472.1_Missense_Mutation_p.R93K|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	93										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GAAGTCCACCCTGTGGGGTCG	0.617000													53	105					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18186107	18186107	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18186107G>A	ENST00000321105.5	-	16	2140	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	TOP3A_ENST00000540524.1_Silent_p.A172A|TOP3A_ENST00000542570.1_Silent_p.A547A	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	642					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTTCTTGCTGGGCCAACTCTG	0.537000													8	205					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43519065	43519065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43519065C>T	ENST00000400427.1	+	7	1141	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	UMODL1_ENST00000408910.2_Missense_Mutation_p.L321F|UMODL1_ENST00000408989.2_Missense_Mutation_p.L321F|UMODL1_ENST00000400424.1_Missense_Mutation_p.L249F	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	321						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTACGTGGTCCTCAACGTCAC	0.493000													64	159					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123778063	123778063	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123778063A>T	ENST00000321355.2	+	1	955	c.925A>T	c.(925-927)Ata>Tta	p.I309L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGAAGAAAAATATCTTTATC	0.264000													21	23					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52960053	52960053	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52960053G>A	ENST00000394752.3	-	10	1507	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	SFMBT1_ENST00000296295.6_Silent_p.F375F|SFMBT1_ENST00000358080.2_Silent_p.F375F|SFMBT1_ENST00000394750.1_Silent_p.F375F	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	375					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCACCGGAGGGAAGCACCTCT	0.557000													81	163					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048882	107048882	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107048882G>A	ENST00000390627.2	-	0	358																											TACTGACGGTGAACCCAGAGG	0.587000													59	199					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2168223	2168223	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2168223G>A	ENST00000262304.4	-	5	978	c.770C>T	c.(769-771)cCc>cTc	p.P257L	PKD1_ENST00000423118.1_Missense_Mutation_p.P257L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	257	WSC.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTACAGGTGGGGGCAGGAGG	0.731000													7	6					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457298	107457298	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107457298C>T	ENST00000318763.5	+	1	639	c.596C>T	c.(595-597)cCt>cTt	p.P199L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATGATGTTGCCTTTCTGTGGG	0.408000													46	137					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676407	73676407	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73676407C>T	ENST00000264448.6	+	8	2861	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S917F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S875F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	917	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTATTTTTTCCCAGCAGACC	0.478000													52	125					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9908883	9908883	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:9908883C>T	ENST00000336832.2	-	6	791	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CIDEC_ENST00000430427.1_Missense_Mutation_p.E228K|CIDEC_ENST00000423850.1_Missense_Mutation_p.E144K|CIDEC_ENST00000383817.1_Missense_Mutation_p.G102E|CIDEC_ENST00000455015.1_Missense_Mutation_p.E144K|CIDEC_ENST00000443115.1_Missense_Mutation_p.G102E	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	218					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGCTGCCCTTCCTCCGTAGCA	0.597000													57	116					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70246069	70246069	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70246069C>T	ENST00000216540.4	-	3	709	c.576G>A	c.(574-576)atG>atA	p.M192I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	192					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GAATGATGATCATCCCTCCCT	0.488000													17	22					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243690	10243690	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10243690C>T	ENST00000418404.3	-	16	2086	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G	MYH13_ENST00000252172.4_Silent_p.G641G|MYH13_ENST00000570743.1_Silent_p.G641G|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	641	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTTCTTCCCGCCCTTCT	0.552000													25	51					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209952659	209952659	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209952659G>A	ENST00000367024.1	+	14	1768		c.e14-1		TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367023.1_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTTTCCAACAGGTTTGCTTCA	0.328000													43	46					0	0	1	0	0
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11									p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577000													4	22					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417638	150417638	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150417638G>A	ENST00000307194.5	+	3	686	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGAGTGCGGGGGCCGGGTCT	0.672000													33	112					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513441	4513441	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:4513441C>T	ENST00000301286.3	-	3	488	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	163	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACTGCCCCCGTGAGCCCAG	0.632000													56	126					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768682	51768682	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51768682C>T	ENST00000316401.7	+	3	464	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TGCAGCTGTTCCTTCCATGGG	0.582000													42	86					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124728665	124728665	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124728665A>C	ENST00000311127.4	-	8	3144	c.3077T>G	c.(3076-3078)gTg>gGg	p.V1026G		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1026	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GCACTCATTCACATCTGTAGA	0.453000													4	28					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028981	37028981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:37028981C>T	ENST00000358047.3	+	1	2550	c.2498C>T	c.(2497-2499)tCa>tTa	p.S833L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	833										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GAAGGTACATCAAGCACAATG	0.517000													59	23					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76211887	76211887	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:76211887C>T	ENST00000298832.9	+	17	1655	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	TTLL5_ENST00000556893.1_Missense_Mutation_p.R22C|TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R498C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	484					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGATTTATTCGCATATTTCC	0.353000													32	59					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673263	38673263	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38673263C>T	ENST00000222345.6	+	16	4822	c.4313C>T	c.(4312-4314)tCc>tTc	p.S1438F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1438					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)			TTTCAGCTCTCCGCCTCCGTC	0.632000													67	191					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263054	167263054	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167263054C>T	ENST00000409855.1	-	25	4211	c.4085G>A	c.(4084-4086)gGa>gAa	p.G1362E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1362					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACCTTTGGTCCTTTTCCAAG	0.448000													13	138					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49214155	49214155	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:49214155C>T	ENST00000327979.2	-	14	2151	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	FAM65C_ENST00000045083.2_Silent_p.L580L|FAM65C_ENST00000535356.1_Silent_p.L584L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	580			L -> P (in dbSNP:rs6020624).							endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCTCATCCAGGGCGAAGT	0.652000													4	15					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156696914	156696914	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156696914C>T	ENST00000313146.6	-	1	1313	c.531G>A	c.(529-531)cgG>cgA	p.R177R	ISG20L2_ENST00000368219.1_Silent_p.R177R	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	177					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACCATCTTCCGTGGCAACT	0.493000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	302					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131522136	131522136	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:131522136G>A	ENST00000423981.1	+	2	2601	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	AMER3_ENST00000321420.4_Missense_Mutation_p.E831K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AAGTGCCCCAGAATGCCGCTG	0.667000													9	13					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	977218	977218	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:977218C>T	ENST00000537687.1	+	9	2969	c.2326C>T	c.(2326-2328)Ctg>Ttg	p.L776L	WNK1_ENST00000574564.1_Silent_p.L75L|WNK1_ENST00000530271.2_Silent_p.L861L|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCAACCCCTGCTGAGGAC	0.547000													61	117					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172634262	172634262	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172634262G>A	ENST00000351008.3	-	9	1531	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	450					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGGATGCAGGAAAACTCCCC	0.473000													86	156					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40765704	40765704	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40765704G>A	ENST00000251413.3	+	7	708	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	216					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GATTGCCACAGACCGCCTGCA	0.572000													91	173					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361406	105361406	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:105361406C>G	ENST00000297581.2	+	2	675	c.626C>G	c.(625-627)tCc>tGc	p.S209C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S209C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	209					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GTGTTGTCCTCCCTGGGTCAG	0.537000													20	161					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090195	114090195	+	Silent	SNP	G	G	A	rs144434655		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:114090195G>A	ENST00000374428.1	-	1	605	c.606C>T	c.(604-606)atC>atT	p.I202I	OR2K2_ENST00000302681.1_Silent_p.I173I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGAAGTGATCGATGAGATTCC	0.532000													39	64					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018516	211018516	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:211018516G>A	ENST00000281772.9	-	2	1054	c.791C>T	c.(790-792)tCt>tTt	p.S264F	KANSL1L_ENST00000418791.1_Missense_Mutation_p.S264F|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S264F|KANSL1L_ENST00000452086.1_Missense_Mutation_p.S264F	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	264																	ATGTTTCATAGACAATTTCAT	0.373000													50	114					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826693	92826693	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92826693C>T	ENST00000394468.2	-	6	1233	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E374K|HEPACAM2_ENST00000492616.1_Intron|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E409K|HEPACAM2_ENST00000440868.1_Intron	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	386						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TACCTGCCTTCTAGTTTCTGT	0.269000													21	87					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089731	102089731	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102089731C>T	ENST00000318222.3	-	1	512	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G44R|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G44R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	44					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGAGAGGCCCCGTGCTGGAG	0.622000													56	92					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208160	126208160	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126208160C>T	ENST00000290868.2	-	17	1720	c.1667G>A	c.(1666-1668)aGg>aAg	p.R556K	UROC1_ENST00000383579.3_Missense_Mutation_p.R616K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	556					histidine catabolic process	cytosol	urocanate hydratase activity	p.R556M(1)|p.R616M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGAGGTCTCCCTAAAGGGGCT	0.502000													53	130					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622646	108622646	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:108622646G>A	ENST00000264047.2	+	7	1159	c.883G>A	c.(883-885)Gga>Aga	p.G295R	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G190R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G295R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	295					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGGCCATTGGAGCATCAAC	0.542000													4	130					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35818911	35818911	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:35818911G>A	ENST00000374704.4	+	6	592	c.412G>A	c.(412-414)Gga>Aga	p.G138R	CCNY_ENST00000265375.9_Missense_Mutation_p.G84R|CCNY_ENST00000339497.5_Missense_Mutation_p.G113R|CCNY_ENST00000374706.1_Missense_Mutation_p.G84R|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	138					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|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						GGACCCAGATGGAAGGATGCT	0.323000													83	143					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318661	153318661	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153318661G>A	ENST00000368739.3	-	3	414	c.56C>T	c.(55-57)tCc>tTc	p.S19F	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S19F|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	19					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCAGGAGGAATCACCTGC	0.478000													69	207					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921094	24921094	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:24921094C>T	ENST00000329468.2	+	1	554	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCCCGCTCCCCTGTCCCGG	0.701000													10	17					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401346	27401346	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:27401346G>A	ENST00000521400.1	+	17	1960	c.1530_splice	c.e17+1	p.W510_splice	EPHX2_ENST00000380476.3_Splice_Site_p.W457_splice|EPHX2_ENST00000518379.1_Splice_Site_p.W478_splice|EPHX2_ENST00000517536.1_Splice_Site_p.W327_splice|EPHX2_ENST00000521780.1_Splice_Site_p.W444_splice	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	510	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGGAGGACTGGGTGAGGGAAT	0.597000													8	97					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140210043	140210043	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140210043G>A	ENST00000529310.1	+	1	2481	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGAATCAGGATTTAAATG	0.388000													43	83					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60582654	60582654	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:60582654T>A	ENST00000252996.3	-	6	1922	c.1923A>T	c.(1921-1923)ttA>ttT	p.L641F		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	641	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTTCTCGGTATAACCTGCTTG	0.438000													12	226					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895692	17895692	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17895692G>A	ENST00000594202.1	+	26	2664	c.2385G>A	c.(2383-2385)ggG>ggA	p.G795G	FCHO1_ENST00000596951.1_Silent_p.G795G|FCHO1_ENST00000389133.4_Silent_p.G795G|FCHO1_ENST00000595033.1_Silent_p.G745G|FCHO1_ENST00000600676.1_Silent_p.G795G|FCHO1_ENST00000597512.1_Silent_p.G802G|FCHO1_ENST00000539407.1_Silent_p.G795G|FCHO1_ENST00000252771.7_Silent_p.G795G|FCHO1_ENST00000596536.1_Silent_p.G795G	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	795										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCCTGTGGGGGAGCCTGTGA	0.647000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	89					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156659399	156659399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156659399G>A	ENST00000422843.3	+	8	915	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	255	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTCTTTTGGACACAGTAAG	0.378000			T	SYK	peripheral T-cell lymphoma								12	21					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998778	99998778	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99998778G>A	ENST00000398027.2	-	18	2053	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	ZCWPW1_ENST00000324725.6_Silent_p.V431V|ZCWPW1_ENST00000490721.1_Silent_p.V431V|ZCWPW1_ENST00000360951.4_3'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	602							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCAAGGGGGACACTTCCAG	0.612000													33	70					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683113	50683113	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:50683113G>A	ENST00000008391.3	+	2	552	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	108							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCACCACGGGGAGCCCACCG	0.622000													45	150					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42735116	42735116	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42735116C>T	ENST00000441594.1	-	10	1502	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	HHATL_ENST00000310417.5_Missense_Mutation_p.R414Q	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	414					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACCTCAATTCGTGCTAGGGG	0.577000													11	28					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626578	142626578	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142626578A>G	ENST00000265310.1	-	4	780	c.432T>C	c.(430-432)tcT>tcC	p.S144S	TRPV5_ENST00000442623.1_Silent_p.S144S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	144					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)					TGGCTCTGGCAGAGACACTGG	0.612000													23	187					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11851286	11851286	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11851286G>A	ENST00000376592.1	-	10	1858	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	MTHFR_ENST00000376585.1_Missense_Mutation_p.P618L|MTHFR_ENST00000376583.3_Missense_Mutation_p.P618L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P577L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	577					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAAGCTGACGGGATCCACTAC	0.592000													29	72					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820142	113820142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113820142G>A	ENST00000393200.2	+	5	517	c.356G>A	c.(355-357)tGg>tAg	p.W119*	IL36RN_ENST00000346807.3_Nonsense_Mutation_p.W119*	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	119						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TACCCGGGCTGGTTCCTGTGC	0.592000													35	75					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	G	A	rs140332483		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:55846490G>A	ENST00000322678.1	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000													55	108					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381808	57381808	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57381808C>T	ENST00000403558.1	+	7	1752	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	SERPING1_ENST00000378323.4_Silent_p.F424F|SERPING1_ENST00000378324.2_Silent_p.F367F|SERPING1_ENST00000278407.4_Silent_p.F419F|SERPING1_ENST00000340687.6_Silent_p.F382F	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	419					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TAGAATTCTTCGATTTTTCTT	0.483000													40	122					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269305	53269305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53269305G>A	ENST00000338230.3	-	3	1971	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GGTGAACAAGGGATGGCTTGT	0.438000													7	379					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54424281	54424281	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:54424281G>A	ENST00000334206.5	-	7	1038	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	CDC20B_ENST00000322374.6_Silent_p.L288L|CDC20B_ENST00000296733.1_Silent_p.L288L|CDC20B_ENST00000381375.2_Silent_p.L288L			Q86Y33	CD20B_HUMAN	cell division cycle 20B	288										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCAACTGCCAGGCAAGTTCCC	0.398000													40	52					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053795	95053795	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95053795G>A	ENST00000329597.7	+	3	306	c.96G>A	c.(94-96)gaG>gaA	p.E32E	SERPINA5_ENST00000554866.1_Silent_p.E32E|SERPINA5_ENST00000553780.1_Silent_p.E32E|SERPINA5_ENST00000554276.1_Silent_p.E32E	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	32					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGAGAGTCGAGGACCTCCATG	0.627000													25	93					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105036984	105036984	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105036984G>A	ENST00000369849.4	+	1	65	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	6	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTTCGGCTCGGAGCACTACCT	0.716000													8	62					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179305320	179305320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:179305320C>T	ENST00000356834.3	-	10	1808	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G591S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	591	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGTAGCCGATGGTGGGG	0.652000													10	17					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681028	176681028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176681028C>T	ENST00000367662.3	+	12	4873	c.3709C>T	c.(3709-3711)Ccc>Tcc	p.P1237S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1237					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						TGGCTGGTTTCCCTGTGTTGC	0.458000													63	81					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038298	37038298	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:37038298G>A	ENST00000334116.7	-	6	1457	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	ZNF529_ENST00000591340.1_Missense_Mutation_p.H388Y	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTACCAGTATGAATTCTCTGA	0.403000													72	120					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256415	7256415	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7256415G>A	ENST00000333751.3	+	1	1208	c.154G>A	c.(154-156)Gga>Aga	p.G52R	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	52					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCGTGGGTACGGAGAGACAGC	0.667000													17	44					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105769034	105769034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:105769034G>A	ENST00000393127.2	+	7	1212	c.766G>A	c.(766-768)Gga>Aga	p.G256R	GRIA4_ENST00000530497.1_Missense_Mutation_p.G256R|GRIA4_ENST00000282499.5_Missense_Mutation_p.G256R|GRIA4_ENST00000428631.2_Missense_Mutation_p.G256R|GRIA4_ENST00000393125.2_Missense_Mutation_p.G256R|GRIA4_ENST00000525187.1_Missense_Mutation_p.G256R	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	256					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TATACATGGTGGAGCCAATGT	0.343000													27	31					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883793	228883793	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:228883793C>T	ENST00000392056.3	-	7	1823	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A593T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	593						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAAGCCTCAGCTGCAGGCGGG	0.577000													28	57					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685270	54685270	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54685270G>A	ENST00000545554.1	+	17	4738	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1580K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1578K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1580					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATTCCTCGTGAAGATCAGGG	0.393000													44	55					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51395194	51395194	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:51395194C>T	ENST00000266037.9	+	45	4712	c.4689C>T	c.(4687-4689)ttC>ttT	p.F1563F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1563	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACAGGCCTTCTTTGATAAAG	0.493000													30	74					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459393	148459393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:148459393C>T	ENST00000542281.1	+	4	1017	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	AGTR1_ENST00000404754.2_Missense_Mutation_p.L191F|AGTR1_ENST00000474935.1_Missense_Mutation_p.L191F|AGTR1_ENST00000402260.1_Missense_Mutation_p.L191F|AGTR1_ENST00000461609.1_Missense_Mutation_p.L191F|AGTR1_ENST00000497524.1_Missense_Mutation_p.L191F|AGTR1_ENST00000418473.2_Missense_Mutation_p.L191F|AGTR1_ENST00000349243.3_Missense_Mutation_p.L191F|AGTR1_ENST00000475347.1_Missense_Mutation_p.L191F	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	191					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAATTCAACCCTCCCGATAGG	0.393000													27	56					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99579324	99579324	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:99579324G>A	ENST00000305798.3	-	1	456	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	18						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AGCCAAATATGAAGTATTTGA	0.507000													62	114					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389646	56389646	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56389646C>T	ENST00000355701.3	-	17	3406	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.E846K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E786K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	846	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGGTTCTCCAGCACGGCC	0.667000													18	62					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171371499	171371499	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171371499G>A	ENST00000334231.6	+	29	3466	c.3466G>A	c.(3466-3468)Gtt>Att	p.V1156I	MYO3B_ENST00000408978.4_Missense_Mutation_p.V1147I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V1120I			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1147					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGTGCCGAGGTTCAAGACTG	0.502000													18	37					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989155	2989155	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2989155G>A	ENST00000246112.4	+	12	1038	c.837G>A	c.(835-837)aaG>aaA	p.K279K	TLE6_ENST00000452088.1_Silent_p.K156K|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	156					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGGAAAAGATGCGGATCT	0.592000													35	49					0	0	1	0	0
HYKK	123688	broad.mit.edu	37	15	78805534	78805534	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:78805534C>T	ENST00000566332.1	+	2	164	c.104C>T	c.(103-105)tCc>tTc	p.S35F	HYKK_ENST00000569878.1_Missense_Mutation_p.S35F|HYKK_ENST00000563233.1_Missense_Mutation_p.S35F|HYKK_ENST00000360519.3_Missense_Mutation_p.S35F|HYKK_ENST00000408962.2_Missense_Mutation_p.S35F|HYKK_ENST00000388988.4_Missense_Mutation_p.S35F					hydroxylysine kinase																		TTGAAAGTTTCCAAGGTCCGG	0.443000													35	70					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417092	89417092	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89417092G>A	ENST00000490686.1	-	0	118																											AGACAGGGAGGATGGAGACTG	0.458000													102	204					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73521477	73521477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73521477G>A	ENST00000394957.3	-	2	447	c.389C>T	c.(388-390)tCc>tTc	p.S130F	C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	130	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CATGGTGATGGAGAAGTTGCC	0.647000													25	46					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846242	230846242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:230846242C>T	ENST00000366667.4	-	2	569	c.355G>A	c.(355-357)Ggc>Agc	p.G119S		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	119					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTGTGCATGCCATATATACGG	0.587000													82	123					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150932129	150932129	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:150932129C>T	ENST00000309170.3	-	3	289		c.e3-1		P2RY14_ENST00000424796.2_Splice_Site|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCAGAGGCCTGAAAAGAGG	0.458000													23	50					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135205030	135205030	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:135205030C>T	ENST00000357296.3	+	6	1505	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Intron|PAOX_ENST00000278060.5_3'UTR|PAOX_ENST00000480071.2_3'UTR	NM_207128.1	NP_997011.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGACAGATTTCAGTCTGGCTT	0.552000													11	20					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68595658	68595658	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:68595658G>A	ENST00000229134.4	-	5	547	c.483C>T	c.(481-483)tcC>tcT	p.S161S	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	161					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTTAATCCAGGAAAGAAGAA	0.289000													37	67					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964218	88964218	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88964218C>T	ENST00000333190.4	+	4	2531	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	641						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATTGATTCCCTGCAGTCCT	0.423000										HNSCC(36;0.09)			25	103					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52512223	52512223	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52512223C>T	ENST00000345716.4	+	10	1232	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	NISCH_ENST00000420808.2_Silent_p.L366L|NISCH_ENST00000479054.1_Silent_p.L366L|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000488380.1_Silent_p.L366L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	366	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGGCAACCTCCTAGAGAGTC	0.537000													40	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599583	179599583	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179599583C>T	ENST00000589042.1	-	51	15292	c.15068G>A	c.(15067-15069)aGt>aAt	p.S5023N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4706N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3779N|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4706	Ig-like 30.						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)			GTTACTTTCACTGAGTTCTTT	0.398000													32	53					0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34502395	34502395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:34502395C>T	ENST00000312319.2	-	6	854	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	ELF5_ENST00000257832.2_Missense_Mutation_p.E199K|ELF5_ENST00000429939.2_Missense_Mutation_p.E104K	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	209					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GCCAGGGCTTCCGATTTAACC	0.413000													67	92					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228550411	228550411	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228550411G>A	ENST00000570156.2	+	91	21741	c.21667G>A	c.(21667-21669)Gaa>Aaa	p.E7223K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E3900K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E6266K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6266					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCACTCCAGGAAACCGGCTC	0.672000													8	18					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175612948	175612948	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:175612948C>T	ENST00000348749.5	-	9	1355	c.1278G>A	c.(1276-1278)atG>atA	p.M426I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M451I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M344I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M346I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	451					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTATGTGGTCCATCACCATTG	0.498000													38	69					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45515524	45515524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45515524C>T	ENST00000221452.8	+	4	644	c.494C>T	c.(493-495)cCc>cTc	p.P165L	RELB_ENST00000540120.1_Missense_Mutation_p.P165L|RELB_ENST00000505236.1_Missense_Mutation_p.P162L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	165	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		AAGACGCTGCCCGCCATCGAG	0.687000													5	22					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133037	64133037	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:64133037C>T	ENST00000295902.6	-	7	1714	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D433N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	377						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGAGCATGTCCATCTGCAGT	0.597000													84	130					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21765100	21765100	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:21765100G>A	ENST00000382254.1	-	12	2588	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	CDH12_ENST00000504376.2_Missense_Mutation_p.A501V|CDH12_ENST00000522262.1_Missense_Mutation_p.A461V|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	501	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCTGGCTTGGCATTTTCACA	0.358000										HNSCC(59;0.17)			64	49					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12185192	12185192	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:12185192G>A	ENST00000379033.3	+	3	299	c.152G>A	c.(151-153)aGa>aAa	p.R51K	SEC61A2_ENST00000304267.8_Missense_Mutation_p.R73K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.R73K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.R73K|SEC61A2_ENST00000298428.9_Missense_Mutation_p.R73K|SEC61A2_ENST00000379017.3_Missense_Mutation_p.R73K|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	73						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GCTTCCAATAGAGGTATGCGT	0.413000													11	242					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711631	155711631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:155711631C>T	ENST00000295101.2	+	3	1789	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	438					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CATGAAACTTCAACGAATAAG	0.423000													47	82					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973147	77973147	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:77973147C>T	ENST00000354212.4	-	9	1609	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	MAGI2_ENST00000522391.1_Silent_p.V452V|MAGI2_ENST00000535697.1_Silent_p.V289V|MAGI2_ENST00000536571.1_Silent_p.V284V|MAGI2_ENST00000419488.1_Silent_p.V452V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	452	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCACACTTTTCACCTGCAGAA	0.438000													44	87					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211030	55211030	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55211030T>C	ENST00000275493.2	+	3	450	c.273T>C	c.(271-273)atT>atC	p.I91I	EGFR_ENST00000420316.2_Silent_p.I91I|EGFR_ENST00000455089.1_Silent_p.I91I|EGFR_ENST00000344576.2_Silent_p.I91I|EGFR_ENST00000442591.1_Silent_p.I91I|EGFR_ENST00000342916.3_Silent_p.I91I|EGFR_ENST00000454757.2_Silent_p.I38I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	91					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGTCCTCATTGCCCTCAACA	0.413000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			26	74					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830510	23830510	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23830510G>A	ENST00000354639.3	+	22	3100	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	STK31_ENST00000428484.1_Missense_Mutation_p.G879E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G902E|STK31_ENST00000355870.3_Missense_Mutation_p.G902E	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	902	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGAAAATGGGAAAACCTGCT	0.353000													39	60					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542129	133542129	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133542129G>A	ENST00000409261.1	-	14	2628	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P752L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	752							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGACACCCTGGGAACATTATC	0.408000													36	68					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280478	238280478	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238280478G>A	ENST00000295550.4	-	9	4634	c.4182C>T	c.(4180-4182)ttC>ttT	p.F1394F	COL6A3_ENST00000472056.1_Silent_p.F787F|COL6A3_ENST00000392004.3_Silent_p.F1188F|COL6A3_ENST00000353578.4_Silent_p.F1188F|COL6A3_ENST00000346358.4_Silent_p.F1194F|COL6A3_ENST00000347401.3_Silent_p.F1193F|COL6A3_ENST00000392003.2_Silent_p.F987F|COL6A3_ENST00000409809.1_Silent_p.F1188F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1394	Nonhelical region.|VWFA 7.				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)		GCAGCTCCCGGAAGGTGCTCA	0.597000													44	99					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156688	61156688	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61156688C>T	ENST00000382771.4	+	4	707	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	SERPINB5_ENST00000489441.1_Missense_Mutation_p.L139F	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	139					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AATTAAGGATCTCACAGATGG	0.383000													19	47					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823898	146823898	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:146823898C>T	ENST00000508784.1	-	2	740	c.513G>A	c.(511-513)agG>agA	p.R171R	ZNF827_ENST00000379448.4_Silent_p.R171R|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGCCAACTTCCTGGCCAGAA	0.537000													48	91					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758679	72758679	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:72758679C>T	ENST00000377182.4	+	9	1965	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	450	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTGGAGTCCCCAAGGGGTGT	0.453000													55	121					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746650	95746650	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:95746650C>T	ENST00000311106.3	-	8	1160	c.923G>A	c.(922-924)gGa>gAa	p.G308E	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261E	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	308	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCCGTTTCCCGAAGCCCA	0.512000													89	159					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225684176	225684176	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:225684176G>A	ENST00000409592.3	-	29	3349	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1085F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1085							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGTCACCGGAGGAGAACAT	0.363000													32	81					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422856	58422856	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:58422856G>A	ENST00000300896.4	-	2	366	c.172C>T	c.(172-174)Cca>Tca	p.P58S	USP32_ENST00000393003.3_Missense_Mutation_p.P58S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	58					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCAACCTTTGGAGGCACTCCA	0.483000													41	108					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26598600	26598600	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26598600C>T	ENST00000274849.1	+	3	577	c.546C>T	c.(544-546)acC>acT	p.T182T		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AGCGTGAGACCGACTTCTATC	0.612000													42	103					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489203	65489203	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65489203G>A	ENST00000261883.4	-	9	3587	c.3421C>T	c.(3421-3423)Cct>Tct	p.P1141S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1141					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTGCAGCAGGGGACTGGGCT	0.622000													28	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596618	179596618	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179596618C>T	ENST00000589042.1	-	58	17208	c.16984G>A	c.(16984-16986)Ggc>Agc	p.G5662S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5345S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4418S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5345	Ig-like 37.						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)			GGAGGAGTGCCTGCCACCTCA	0.413000													48	114					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838062	92838062	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92838062G>A	ENST00000394468.2	-	4	920	c.843C>T	c.(841-843)tcC>tcT	p.S281S	HEPACAM2_ENST00000341723.4_Silent_p.S269S|HEPACAM2_ENST00000453812.2_Silent_p.S304S|HEPACAM2_ENST00000440868.1_Silent_p.S269S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	281	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TCCTAATCCAGGAGTAGGTGT	0.443000													67	120					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416594	105416594	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105416594G>A	ENST00000333244.5	-	7	5313	c.5194C>T	c.(5194-5196)Ccc>Tcc	p.P1732S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1732						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTCCCTCGGGAAGGGGGCCC	0.637000													28	373					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103530	52103530	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52103530C>T	ENST00000361781.2	-	7	1304	c.345G>A	c.(343-345)atG>atA	p.M115I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.M115I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	121					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGATCTTTATCATCTCTTTCC	0.507000													41	99					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70915182	70915182	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70915182G>A	ENST00000264436.3	-	9	1366	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	ADD2_ENST00000430656.1_Missense_Mutation_p.H324Y|ADD2_ENST00000355733.3_Missense_Mutation_p.H308Y|ADD2_ENST00000413157.2_Missense_Mutation_p.H308Y|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Missense_Mutation_p.H308Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	308					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCCTGCAGGTGGAAGATCTTG	0.502000													23	48					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11573061	11573061	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11573061G>A	ENST00000262442.3	+	17	3371	c.3303G>A	c.(3301-3303)aaG>aaA	p.K1101K	DNAH9_ENST00000454412.2_Silent_p.K1101K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1101	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATATTATTAAGAGGTGGAGCC	0.458000													6	243					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362526	169362526	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169362526C>T	ENST00000511577.1	-	10	1503	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K	DDX60L_ENST00000505890.1_Missense_Mutation_p.R419K|DDX60L_ENST00000260184.7_Missense_Mutation_p.R419K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	419							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAAATGTCTTCTTGTTGTTCT	0.373000													42	74					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94835652	94835652	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:94835652C>T	ENST00000371531.1	+	5	1105	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	CYP26A1_ENST00000394139.1_Silent_p.L243L|CYP26A1_ENST00000224356.4_Silent_p.L312L	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	312					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGCCACATCTCTGATCACTTA	0.507000													27	60					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457469	107457469	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107457469C>T	ENST00000318763.5	+	1	810	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATTCTCTCTTCCATCCTGAGA	0.388000													54	96					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121680	38121680	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38121680C>T	ENST00000406386.3	+	7	3372	c.3117C>T	c.(3115-3117)ccC>ccT	p.P1039P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1039					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			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)					ACCCCTTCCCCTTCTTCCCAG	0.657000													66	175					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307280	46307280	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46307280C>T	ENST00000357422.2	+	4	1174	c.631C>T	c.(631-633)Cct>Tct	p.P211S	CCR3_ENST00000541018.1_Missense_Mutation_p.P211S|CCR3_ENST00000395942.2_Missense_Mutation_p.P211S|CCR3_ENST00000545097.1_Missense_Mutation_p.P232S|CCR3_ENST00000395940.2_Missense_Mutation_p.P211S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	211					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCTCGTTCTCCCTCTGCTCGT	0.463000													23	70					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185941904	185941904	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:185941904C>T	ENST00000338875.4	+	4	962	c.962C>T	c.(961-963)cCc>cTc	p.P321L	HELT_ENST00000505610.1_Missense_Mutation_p.P235L|HELT_ENST00000515777.1_Missense_Mutation_p.P236L	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	321							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTGCACACGCCCCAGCACCCC	0.602000													34	68					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106621145	106621145	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:106621145G>T	ENST00000451321.2	-	2	497	c.18C>A	c.(16-18)aaC>aaA	p.N6K	INTS12_ENST00000394735.1_Missense_Mutation_p.N6K|INTS12_ENST00000340139.5_Missense_Mutation_p.N6K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	6					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CAAGTTCCAAGTTCACAGTAG	0.348000													12	233					4.3838e-07	4.40399e-07	1	1	0
TMED4	222068	broad.mit.edu	37	7	44621332	44621332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44621332G>A	ENST00000457408.2	-	2	303	c.251C>T	c.(250-252)cCc>cTc	p.P84L	TMED4_ENST00000289577.5_Missense_Mutation_p.P84L|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.P84L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	84	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTTGCCGTCGGGGTCCTTCAC	0.627000													49	91					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820335	50820335	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50820335C>T	ENST00000374115.3	+	1	1989	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	517					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCCGCCTGGCCCTTTTGATGC	0.642000													51	134					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425428	49425428	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49425428G>A	ENST00000301067.7	-	39	13059	c.13060C>T	c.(13060-13062)Cct>Tct	p.P4354S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCCCAGGAGGCGGCTCCAAG	0.612000													11	13					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941395	38941395	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38941395G>A	ENST00000302328.3	-	13	2210	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S671F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S671F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S671F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	671					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)	CACTCTGAAGGAACGCAAGAA	0.413000													21	34					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585271	7585271	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7585271G>A	ENST00000597229.1	+	2	1313	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.G381G	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	381					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCTCTGCGGGAAGGCCTTCG	0.692000													4	74					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249745	238249745	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238249745G>A	ENST00000295550.4	-	38	8266	c.7814C>T	c.(7813-7815)tCc>tTc	p.S2605F	COL6A3_ENST00000472056.1_Missense_Mutation_p.S1998F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2399F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2405F|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2404F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2399F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2605	Nonhelical region.				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)		GTCCCTGAAGGAAGGCCTCCA	0.527000													6	262					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126497	19126497	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19126497G>A	ENST00000381440.3	+	1	1244	c.714G>A	c.(712-714)gtG>gtA	p.V238V	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	238						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTTCTGCGTGGATGTGCGCG	0.652000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	136					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138650349	138650349	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138650349C>T	ENST00000298480.5	+	10	923	c.849C>T	c.(847-849)ttC>ttT	p.F283F	KCNT1_ENST00000371757.2_Silent_p.F283F|KCNT1_ENST00000263604.3_Silent_p.F264F|KCNT1_ENST00000486577.2_Silent_p.F244F|KCNT1_ENST00000488444.2_Silent_p.F264F|KCNT1_ENST00000487664.1_Silent_p.F235F|KCNT1_ENST00000490355.2_Silent_p.F264F|KCNT1_ENST00000491806.2_Silent_p.F250F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	283						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCTCGTTTTCACGGGGTGAG	0.612000													30	100					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018067	101018067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101018067C>T	ENST00000537247.1	+	10	2126	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	GAS2L3_ENST00000539410.1_Missense_Mutation_p.S495L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S495L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S495L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	495					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CATTCAAATTCATCCTCAAAA	0.363000													39	73					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394543	52394543	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52394543C>T	ENST00000354957.3	-	5	1130	c.846G>A	c.(844-846)agG>agA	p.R282R	ZNF649_ENST00000600738.1_Silent_p.R254R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCGTGTGAATCCTTTGATGTT	0.473000													10	77					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418287	38418287	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38418287C>T	ENST00000322350.5	+	12	1960	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	EGFLAM_ENST00000336740.6_Silent_p.L304L|EGFLAM_ENST00000354891.3_Silent_p.L538L|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	538	Laminin G-like 1.					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)					TGCAGTCGCTCGCTGTGAATG	0.577000													34	148					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101798471	101798471	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:101798471G>A	ENST00000375001.3	+	20	2732	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	770	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAGAGAAAGGAGACCGGGGA	0.488000													10	114					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797680	42797680	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42797680C>T	ENST00000314073.5	+	6	1785	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P537S					GLTSCR1-like																		CATGTCAGGACCTAGTCGGTT	0.547000													24	92					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34097694	34097694	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34097694C>T	ENST00000297161.2	+	11	1325	c.951C>T	c.(949-951)atC>atT	p.I317I	BMPER_ENST00000426693.1_Silent_p.I317I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	317	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTCCTCTATCAATTGTACCA	0.507000													16	37					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595333	55595333	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55595333C>T	ENST00000378397.1	+	1	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.498000										HNSCC(27;0.073)			59	121					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911817	158911817	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158911817C>T	ENST00000368140.1	+	5	875	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Silent_p.F201F|PYHIN1_ENST00000368138.3_Silent_p.F201F|PYHIN1_ENST00000392254.2_Silent_p.F210F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	210	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAAATATTTTCCGAGAAGACC	0.368000													54	57					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632148	32632148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:32632148C>T	ENST00000242310.4	-	1	3519	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1144					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTTCCGCTCCTGCTCCTCC	0.473000													4	93					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664623	88664623	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:88664623C>T	ENST00000301011.5	+	4	926	c.726C>T	c.(724-726)caC>caT	p.H242H	ZC3H18_ENST00000452588.2_Silent_p.H266H	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	242						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGTTTATACACCCTGGAGTGA	0.542000													9	88					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681078	73681078	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:73681078C>T	ENST00000339764.1	+	8	1621	c.870C>T	c.(868-870)ctC>ctT	p.L290L	DNAJB13_ENST00000543947.1_Silent_p.L115L|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.L115L	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	290					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AAGGGGATCTCTTCATCTTCT	0.547000													111	181					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649202	47649202	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:47649202G>A	ENST00000398742.2	+	5	752	c.703G>A	c.(703-705)Gga>Aga	p.G235R	GPR111_ENST00000507065.1_Missense_Mutation_p.G235R|GPR111_ENST00000296862.1_Missense_Mutation_p.G303R			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	303					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGATAACATTGGAAAAAATTT	0.398000													9	229					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618320	8618320	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8618320C>T	ENST00000338257.8	-	5	595	c.326_splice	c.e5-1	p.G110_splice		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	110	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACTCTCTCCACTGGGGATG	0.517000													37	70					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138116230	138116230	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:138116230T>C	ENST00000289104.4	+	3	905	c.258T>C	c.(256-258)gaT>gaC	p.D86D	MRAS_ENST00000474559.1_Silent_p.D86D|MRAS_ENST00000423968.2_Silent_p.D86D|MRAS_ENST00000464896.1_Silent_p.D10D	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	86					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCACGGGGGATGGCTTCCTCA	0.592000													26	44					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023163	76023163	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:76023163C>T	ENST00000393004.2	-	5	2606	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	FILIP1_ENST00000370020.1_Missense_Mutation_p.M696I|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.M795I			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	795										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACATCCACCATTCTTCTTC	0.498000													150	67					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617025	1617025	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:1617025C>T	ENST00000381580.1	-	3	637	c.458G>A	c.(457-459)gGg>gAg	p.G153E	SIRPG_ENST00000381583.2_Missense_Mutation_p.G186E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186E|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186E			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	186	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 cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	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						GAGCTCATTCCCATTTTTGAA	0.577000													41	111					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62570915	62570915	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:62570915G>A	ENST00000383710.4	-	8	1871	c.1522C>T	c.(1522-1524)Ctc>Ttc	p.L508F	CADPS_ENST00000357948.3_Missense_Mutation_p.L508F|CADPS_ENST00000283269.9_Missense_Mutation_p.L508F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	508					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGATTTTGAGATCTTGGTCG	0.468000													40	121					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408399	29408399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29408399G>A	ENST00000444197.2	+	1	1317	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGGCAACAGCCCTCCTCAT	0.582000													135	301					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70855920	70855920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:70855920C>T	ENST00000358731.4	+	37	7615	c.7352C>T	c.(7351-7353)tCt>tTt	p.S2451F	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2451					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGATCTAGATCTCCTGATGCA	0.433000													42	68					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755795	242755795	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242755795C>T	ENST00000391969.2	+	3	825	c.114C>T	c.(112-114)gcC>gcT	p.A38A	NEU4_ENST00000404257.1_Silent_p.A50A|NEU4_ENST00000405370.1_Silent_p.A38A|NEU4_ENST00000407683.1_Silent_p.A38A|NEU4_ENST00000325935.6_Silent_p.A51A	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	38						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCTGCTGGCCTTTGTGGAGC	0.726000													5	36					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745083	23745083	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23745083G>A	ENST00000357460.5	-	2	1518	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P454S|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P454S	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	452	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCAGAGGTGGTGTCTCAGCC	0.562000													15	30					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765166	49765166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:49765166C>T	ENST00000492622.2	+	18	2265	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F	FNDC3A_ENST00000541916.1_Missense_Mutation_p.L654F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.L598F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	654	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGAATCTTTACTTGTGCAGAC	0.408000													8	112					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66206166	66206166	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66206166G>A	ENST00000310999.7	-	1	153	c.60C>T	c.(58-60)atC>atT	p.I20I	MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000329819.4_Silent_p.I20I	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	20					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGATCGCCCGGATCACACCGC	0.721000													5	49					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884972	39884972	+	Silent	SNP	C	C	T	rs146172408	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:39884972C>T	ENST00000260356.5	+	17	2901	c.2736C>T	c.(2734-2736)ctC>ctT	p.L912L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	912					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACTGCAGACTCGTGCCCAATC	0.517000													10	41					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092218	35092218	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35092218G>A	ENST00000378617.3	-	7	2060	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	PIGO_ENST00000341666.3_Missense_Mutation_p.R556C|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	556					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAGCCAAGCGAAACAGCAGG	0.577000													30	66					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466732	51466732	+	Missense_Mutation	SNP	G	G	A	rs145988076	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51466732G>A	ENST00000376851.3	-	4	710	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	KLK6_ENST00000594641.1_Missense_Mutation_p.R91W|KLK6_ENST00000310157.2_Missense_Mutation_p.R91W|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000424910.2_Silent_p.S38S|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_5'UTR	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	91	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCACAGCCCGGACAACAGAA	0.577000													9	103					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221502	140221502	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140221502C>T	ENST00000531613.1	+	1	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PCDHA8_ENST00000378123.3_Missense_Mutation_p.S199F|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAAAATCCTTGGACAGA	0.478000													34	76					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108179190	108179190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108179190C>T	ENST00000273353.3	-	18	2005	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	650	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTTCTTTCGTTTCTTCTC	0.318000													9	27					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062188	31062188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:31062188C>T	ENST00000399914.1	-	3	925	c.404G>A	c.(403-405)tGg>tAg	p.W135*	GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W135*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W135*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W135*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W135*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W135*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	135					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGGGTGTTTCCAGCGGGTCTG	0.502000													53	216					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024249	71024249	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:71024249C>T	ENST00000344526.5	+	3	469	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	C4orf40_ENST00000502294.1_Missense_Mutation_p.P94S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	94						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCGTGGTTTTCCCTTAGCTAC	0.507000													98	211					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46615714	46615714	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46615714C>T	ENST00000396000.2	+	6	779	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Missense_Mutation_p.R172C|PPARA_ENST00000262735.5_Missense_Mutation_p.R172C|PPARA_ENST00000407236.1_Missense_Mutation_p.R172C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	172					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	p.R172C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTAGCGATTCGTTTTGGACG	0.493000													10	84					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390896	1390896	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:1390896C>T	ENST00000313408.7	+	5	278	c.255C>T	c.(253-255)ggC>ggT	p.G85G	NDUFS7_ENST00000539480.1_Silent_p.G85G|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Silent_p.G115G|NDUFS7_ENST00000546283.1_Silent_p.G85G|NDUFS7_ENST00000233627.9_Silent_p.G85G			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	85					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	TGACCTTCGGCCTGGCCTGCT	0.706000													20	54					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835268	35835268	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:35835268G>A	ENST00000187397.4	+	20	2713	c.2257G>A	c.(2257-2259)Ggt>Agt	p.G753S	ARPP21_ENST00000458225.1_Missense_Mutation_p.G754S|ARPP21_ENST00000444190.1_Missense_Mutation_p.G734S|ARPP21_ENST00000417925.1_Missense_Mutation_p.G754S|ARPP21_ENST00000337271.5_Missense_Mutation_p.G734S|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	753	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAACCAGGCAGGTCAAGGGTC	0.542000													43	69					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041526	90041526	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:90041526G>A	ENST00000405460.2	+	52	10984	c.10888G>A	c.(10888-10890)Gga>Aga	p.G3630R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3630					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G3630R(1)		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)		AAATCCCAAAGGAGGAGCAGA	0.363000													23	42					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196484	207196484	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207196484G>C	ENST00000359470.5	-	4	874	c.625C>G	c.(625-627)Cca>Gca	p.P209A	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	209						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CACTGCTCTGGCTGGGTGTCC	0.662000													10	319					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79460483	79460483	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79460483C>T	ENST00000264895.6	+	73	11774	c.11334C>T	c.(11332-11334)ttC>ttT	p.F3778F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3773					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATAAGTACTTCCATGATGTGC	0.423000													38	82					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18264805	18264805	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:18264805C>T	ENST00000251900.4	-	13	1873	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	SCML2_ENST00000398048.3_Missense_Mutation_p.D308N	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	572					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CGAGAAAAATCCTGGGAGACT	0.413000													106	23					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50666539	50666539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:50666539G>A	ENST00000216373.5	-	4	654	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SOS2_ENST00000543680.1_Missense_Mutation_p.S127F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	127					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AATATATAGGGATACATGGTA	0.308000													54	91					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56087690	56087690	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56087690C>T	ENST00000429804.2	-	7	1859	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CTCFL_ENST00000502686.2_Silent_p.E221E|CTCFL_ENST00000243914.3_Silent_p.E483E|CTCFL_ENST00000433949.2_Silent_p.E483E|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.E483E|CTCFL_ENST00000422869.2_Silent_p.E483E|CTCFL_ENST00000539382.1_Silent_p.E278E|CTCFL_ENST00000371196.2_Silent_p.E483E	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	483					cell cycle|DNA methylation involved in gamete generation|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)			TGAACCTCTTCTCATTCTTAT	0.473000													41	79					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196640651	196640651	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:196640651G>A	ENST00000312428.6	-	60	11221	c.11121C>T	c.(11119-11121)atC>atT	p.I3707I	DNAH7_ENST00000409063.1_Silent_p.I190I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3707					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						TCATCCCAAAGATTTCTGGTG	0.408000													31	70					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029636	13029636	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:13029636C>T	ENST00000399002.2	+	2	435	c.161C>T	c.(160-162)tCg>tTg	p.S54L	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.S54L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	54					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATTGTTGAATCGTTTGAGGAA	0.378000													89	170					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098803	11098803	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11098803C>T	ENST00000470054.1	-	0	122									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcgctgccatctctgttgcca	0.632000													29	139					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175356	57175356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57175356G>A	ENST00000537055.2	-	2	1442	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCTATAAGCGAGGACACGTG	0.657000													24	46					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560518	178560518	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:178560518G>A	ENST00000432997.1	+	5	853	c.501G>A	c.(499-501)agG>agA	p.R167R	RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R167R|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R167R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R167R|RP11-385J1.2_ENST00000451742.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	167					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAAACTTCAGGAAGTATCAAC	0.393000													27	88					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137328	40137328	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:40137328G>A	ENST00000278198.2	-	2	2478	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis	integral to membrane	protein binding			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)				GCGCAAAGAAGGAATTCTGTT	0.428000													38	86					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114168	107114168	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107114168G>A	ENST00000454421.2	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.468000													65	187					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682371	31682371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:31682371G>A	ENST00000319386.3	+	11	1936	c.943G>A	c.(943-945)Gta>Ata	p.V315I	CCDC129_ENST00000451887.2_Missense_Mutation_p.V489I|CCDC129_ENST00000409210.1_Missense_Mutation_p.V371I|CCDC129_ENST00000407970.3_Missense_Mutation_p.V463I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	463										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCACAGCTTAGTATCATCCCA	0.507000													42	82					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77680845	77680845	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:77680845G>A	ENST00000296043.6	+	9	6299	c.5346G>A	c.(5344-5346)aaG>aaA	p.K1782K	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1782	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAATGAAAAGAAGGTAAATA	0.463000													16	28					0	0	1	0	0
TK1	7083	broad.mit.edu	37	17	76178710	76178710	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76178710G>A	ENST00000588734.1	-	4	501	c.263C>T	c.(262-264)gCc>gTc	p.A88V	TK1_ENST00000405273.1_Missense_Mutation_p.A88V|TK1_ENST00000590862.1_Missense_Mutation_p.A88V|TK1_ENST00000590430.1_Intron|TK1_ENST00000301634.7_Missense_Mutation_p.A88V			P04183	KITH_HUMAN	thymidine kinase 1, soluble	88					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			CACGCCCAGGGCCTCCTGGGC	0.622000													4	24					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201418	187201418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187201418G>A	ENST00000264692.4	+	9	1084	c.751G>A	c.(751-753)Gga>Aga	p.G251R	F11_ENST00000403665.2_Missense_Mutation_p.G303R			P03951	FA11_HUMAN	coagulation factor XI	303	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGATTTCTTGGGAGAAGAACT	0.498000													40	127					0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63450332	63450332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:63450332G>A	ENST00000330194.2	+	4	546	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	81										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CAAGCTATACGAGTTTATGTT	0.313000													27	57					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215933057	215933057	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:215933057G>A	ENST00000366943.2	-	57	11562	c.11176C>T	c.(11176-11178)Ctg>Ttg	p.L3726L	USH2A_ENST00000307340.3_Silent_p.L3726L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3726	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCCACCCAGGAAAAGCAAG	0.403000										HNSCC(13;0.011)			77	94					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049401	67049401	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67049401G>A	ENST00000315962.4	+	4	952	c.579G>A	c.(577-579)ctG>ctA	p.L193L	TRIM55_ENST00000353317.5_Silent_p.L193L|TRIM55_ENST00000350034.4_Silent_p.L193L|TRIM55_ENST00000276573.7_Silent_p.L193L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	193						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCAGCCAGCTGGAAGACACCT	0.522000													26	47					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58478199	58478199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58478199G>A	ENST00000344743.3	-	5	493	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	118					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGGCTGCAAGATTTTGTATA	0.408000													46	92					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34049300	34049300	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:34049300G>A	ENST00000373381.4	-	47	7358	c.7182C>T	c.(7180-7182)tcC>tcT	p.S2394S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2396	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTGTGAGGGAGATGTTAT	0.507000													57	150					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115391294	115391294	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:115391294G>A	ENST00000369358.4	-	18	2084	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	NRAP_ENST00000359988.3_Silent_p.L606L|NRAP_ENST00000369360.3_Silent_p.L579L|NRAP_ENST00000360478.3_Silent_p.L571L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	606						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCAATCTGCAGGGAGTGCAGA	0.408000													61	129					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423623	26423623	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26423623G>A	ENST00000335473.7	+	43	7933	c.7683G>A	c.(7681-7683)atG>atA	p.M2561I	MYO18B_ENST00000536101.1_Missense_Mutation_p.M2561I|MYO18B_ENST00000407587.2_Missense_Mutation_p.M2562I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2561						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						CGAGCATAATGAAGAAATACC	0.567000													9	24					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356828	97356828	+	Missense_Mutation	SNP	C	C	T	rs61732635		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:97356828C>T	ENST00000389672.5	+	14	2724	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	EPHA6_ENST00000514100.1_Missense_Mutation_p.R288W|EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Missense_Mutation_p.R288W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	801	Protein kinase.					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						CCTAGCGGCTCGGAATATACT	0.448000													61	113					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341249	14341249	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:14341249T>C	ENST00000571589.1	+	12	2304	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.V700A	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	700	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCTGTTGTTGCTCAGCCC	0.587000													15	55					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3672074	3672074	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3672074T>G	ENST00000294600.2	+	3	580	c.496T>G	c.(496-498)Tgg>Ggg	p.W166G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	166										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTCGGAGACCTGGAGAGGCAC	0.612000													121	345					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209778894	209778894	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209778894G>A	ENST00000009105.1	+	5	555	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CAMK1G_ENST00000361322.2_Missense_Mutation_p.E104K			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	104	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TTCTGGTGGGGAGCTCTTTGA	0.498000													97	124					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50113510	50113510	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:50113510C>T	ENST00000376025.2	-	0	3709							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTTAATTTTCAGCCTGAGGC	0.423000													5	4					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991032	140991032	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140991032C>T	ENST00000277549.5	+	37	5342	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1731W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1732W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1730W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1729W|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R95W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1731W			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1731					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGTTCATCCGGGTCTGGGC	0.562000													42	46					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131229974	131229974	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:131229974C>T	ENST00000337057.3	-	5	1021	c.840G>A	c.(838-840)aaG>aaA	p.K280K	EPB41L2_ENST00000525271.1_Silent_p.K280K|EPB41L2_ENST00000525193.1_Silent_p.K280K|EPB41L2_ENST00000527411.1_Silent_p.K280K|EPB41L2_ENST00000530481.1_Silent_p.K280K|EPB41L2_ENST00000528282.1_Silent_p.K280K|EPB41L2_ENST00000445890.2_Silent_p.K280K|EPB41L2_ENST00000368128.2_Silent_p.K280K|EPB41L2_ENST00000527659.1_Silent_p.K280K|EPB41L2_ENST00000529208.1_Silent_p.K280K|EPB41L2_ENST00000392427.3_Silent_p.K280K|EPB41L2_ENST00000530148.1_5'UTR	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	280	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAGTTGTCTCTTTATTTCTT	0.289000													33	27					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484776	97484776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:97484776C>T	ENST00000376705.2	+	2	764	c.740C>T	c.(739-741)cCa>cTa	p.P247L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	247	3'-phosphate binding (Potential).					integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TTACGGGATCCAGTGTCACGT	0.428000													18	16					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969391	75969391	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75969391C>T	ENST00000274364.6	+	25	3483	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	IQGAP2_ENST00000502745.1_Silent_p.I558I|IQGAP2_ENST00000396234.3_Silent_p.I558I|IQGAP2_ENST00000379730.3_Silent_p.I564I	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1062	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAATTCTATCATTTCTTCCC	0.418000													52	105					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656475	19656475	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19656475G>A	ENST00000586018.1	+	8	3241	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	CILP2_ENST00000291495.4_Missense_Mutation_p.E1041K			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1041						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGCCCGCGGAGGACCCAGC	0.667000													7	33					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930427	46930427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46930427C>T	ENST00000264318.3	-	9	2462	c.1480G>A	c.(1480-1482)Ggg>Agg	p.G494R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	494					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G494W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAGTAGCCCCTATGGTATTA	0.468000													45	111					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541155	187541155	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187541155G>A	ENST00000441802.2	-	10	6794	c.6585C>T	c.(6583-6585)atC>atT	p.I2195I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2195	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTGCACCTGGATGCTCTCTG	0.512000										HNSCC(5;0.00058)			9	170					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39001172	39001172	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39001172C>T	ENST00000355481.4	+	59	9098	c.8967C>T	c.(8965-8967)tcC>tcT	p.S2989S	RYR1_ENST00000360985.3_Silent_p.S2989S|RYR1_ENST00000359596.3_Silent_p.S2989S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2989					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	TGGAAAAGTCCCCACATGAAC	0.567000													34	80					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283012	63283012	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:63283012C>T	ENST00000366671.3	+	5	902	c.626C>T	c.(625-627)tCc>tTc	p.S209F	OTX1_ENST00000282549.2_Missense_Mutation_p.S209F	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	209						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)					ATGCAGCGCTCCGTAGCTGCA	0.682000													14	33					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081536	141081536	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141081536G>A	ENST00000389484.3	-	81	13411	c.12440C>T	c.(12439-12441)tCa>tTa	p.S4147L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4147					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)		GTACTCTACTGAACCATGGCC	0.294000										TSP Lung(27;0.18)			42	88					0	0	1	0	0
STX8	9482	broad.mit.edu	37	17	9395211	9395211	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:9395211G>A	ENST00000306357.3	-	6	903	c.476C>T	c.(475-477)tCc>tTc	p.S159F	STX8_ENST00000574431.1_Missense_Mutation_p.S48F	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	159	t-SNARE coiled-coil homology.				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TATGATAGAGGAAAGGGCATC	0.383000													51	115					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5842579	5842579	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5842579A>G	ENST00000380191.4	-	2	425	c.135T>C	c.(133-135)tcT>tcC	p.S45S	GDI2_ENST00000380132.4_Silent_p.S49S|GDI2_ENST00000380181.3_Silent_p.S45S	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	45					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATGGTGTTATAGATGCACTCT	0.378000													47	103					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120602772	120602772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:120602772G>A	ENST00000427067.2	-	13	1348	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R446*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.R394*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R394*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.R33*			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	394					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTGGATCGAATTCTTCCT	0.333000													23	41					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28030370	28030370	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:28030370G>A	ENST00000375790.5	-	3	684	c.252C>T	c.(250-252)ccC>ccT	p.P84P	MKX_ENST00000419761.1_Silent_p.P84P			Q8IYA7	MKX_HUMAN	mohawk homeobox	84					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACTGCTTGAGGGGTCGCGCCA	0.632000													53	105					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46645140	46645140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:46645140G>A	ENST00000269445.6	-	15	2177	c.1720C>T	c.(1720-1722)Cag>Tag	p.Q574*	DYM_ENST00000442713.2_Nonsense_Mutation_p.Q384*|RP11-15F12.3_ENST00000585251.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	574						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTATATCCTGAAATGAAGGA	0.358000													24	44					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113328	75113328	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75113328T>C	ENST00000401621.2	-	3	356	c.236A>G	c.(235-237)cAc>cGc	p.H79R	TTC18_ENST00000394865.1_Missense_Mutation_p.H79R|TTC18_ENST00000340329.3_Missense_Mutation_p.H79R|TTC18_ENST00000310715.3_Missense_Mutation_p.H79R|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	79				H -> Y (in Ref. 1; CAH10391).			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)					CACAGGTTTGTGAGCGAGGTC	0.403000													29	75					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868749	61868749	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61868749C>T	ENST00000280772.1	-	27	3203	c.3012G>A	c.(3010-3012)ggG>ggA	p.G1004G	ANK3_ENST00000355288.2_Silent_p.G138G|ANK3_ENST00000503366.1_Silent_p.G1005G|ANK3_ENST00000373827.2_Silent_p.G998G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1004	ZU5.				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						TGATTCTCATCCCGTGATGAC	0.552000													32	61					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733521	50733521	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50733521C>T	ENST00000300589.2	+	2	301	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	66	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGGGAGGTCCTCTCCTGGGA	0.632000													45	81					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83936890	83936890	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83936890G>A	ENST00000345382.2	-	2	279	c.194C>T	c.(193-195)gCc>gTc	p.A65V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A58V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	65					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTACCGTGGGCCACCCATCC	0.418000													22	44					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557619	59557619	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:59557619C>T	ENST00000393853.4	+	8	1123	c.960C>T	c.(958-960)ccC>ccT	p.P320P	TBX4_ENST00000240335.1_Silent_p.P320P|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	320					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGACCTGCCCCTCAGCACCT	0.632000													42	93					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555144	44555144	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:44555144C>T	ENST00000330682.2	-	1	1305	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	357	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTAGGGGACCCCTTCCACGTC	0.647000													28	2119					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176983	140176983	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140176983A>G	ENST00000378132.1	+	1	2540	c.2434A>G	c.(2434-2436)Aaa>Gaa	p.K812E	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031495.1	NP_113683.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTTTTAAAAAATTCTA	0.308000													18	38					0	0	1	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815856	106815856	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106815856C>T	ENST00000390615.2	-	0	296																											TTACTTCCATCATACCATATA	0.517000													106	46					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312929	42312929	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:42312929C>T	ENST00000357396.3	+	3	744	c.503C>T	c.(502-504)gCc>gTc	p.A168V	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A168V|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A168V	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	168						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCGCTGGTGGCCGCGCTGGTG	0.597000													9	322					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56203374	56203374	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56203374C>T	ENST00000411543.2	+	7	1822	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	EPN1_ENST00000270460.6_Silent_p.A339A|EPN1_ENST00000085079.7_Silent_p.A314A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	339	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGACCCCAGCCCCTGCAGCTG	0.697000													5	13					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869094	150869094	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:150869094C>T	ENST00000370353.3	+	4	675	c.285C>T	c.(283-285)atC>atT	p.I95I	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Silent_p.I95I			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	95						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTGTCATCGCCTTGTTCA	0.597000													14	216					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794833	214794833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:214794833C>T	ENST00000331683.5	+	12	1459	c.1364C>T	c.(1363-1365)tCa>tTa	p.S455L	SPAG16_ENST00000374309.3_Missense_Mutation_p.S361L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	455					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCTTCCTCCTCACTGGATAAA	0.428000													46	60					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389937	150389937	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150389937G>A	ENST00000223293.5	+	3	657	c.563G>A	c.(562-564)gGg>gAg	p.G188E		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	188						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGCTGAAGGGAGCAATCAG	0.463000													66	126					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119103218	119103218	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119103218G>A	ENST00000264033.4	+	2	632	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	86	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTATATCTTAGACCTGCTACC	0.428000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				33	50					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098891	82098891	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:82098891C>T	ENST00000421924.2	-	5	772	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	DYDC1_ENST00000372202.1_Missense_Mutation_p.E121K|DYDC1_ENST00000372204.3_Missense_Mutation_p.E121K			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	121										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			ACTAGATTTTCCATATTCATT	0.254000													5	13					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6854018	6854018	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6854018G>A	ENST00000304076.2	+	25	2421	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R766Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R743Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R701Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R798Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	798					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCCGAGACCGATCAGAGCTG	0.552000													52	133					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770175	112770175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:112770175G>A	ENST00000390666.3	-	1	553	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	121	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GATGGCCAAGGAAAGCTGGTG	0.567000													27	55					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929800	23929800	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:23929800G>A	ENST00000382298.3	-	8	1539	c.951C>T	c.(949-951)tcC>tcT	p.S317S	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.S317S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	317					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGACATATAAGGAAACATCCT	0.443000													22	56					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543687	28543687	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28543687C>T	ENST00000452236.2	-	3	1412	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	265					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CAACTGATTCCTTTTTCGCCT	0.353000													68	245					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045559	119045559	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119045559C>T	ENST00000409109.1	+	6	1834	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	NLRX1_ENST00000292199.2_Missense_Mutation_p.P416L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P416L|NLRX1_ENST00000409991.1_Missense_Mutation_p.P416L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P416L			Q86UT6	NLRX1_HUMAN	NLR family member X1	416	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCACTGACCCCTCCAATTTG	0.582000													34	41					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135426623	135426623	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135426623C>T	ENST00000394143.1	+	6	1049	c.758C>T	c.(757-759)tCc>tTc	p.S253F	GPR112_ENST00000412101.1_Missense_Mutation_p.S48F|GPR112_ENST00000287534.4_Missense_Mutation_p.S190F|GPR112_ENST00000394141.1_Missense_Mutation_p.S48F|GPR112_ENST00000370652.1_Missense_Mutation_p.S253F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	253					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCACTCCATCCCAAATTACT	0.318000													28	15					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21951281	21951281	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21951281C>T	ENST00000406877.3	-	3	536	c.257G>A	c.(256-258)gGa>gAa	p.G86E	CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000356195.5_Missense_Mutation_p.G52E|CDCA7L_ENST00000465490.1_Intron	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	86	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGCGTAAATCCTGCAAAATC	0.383000													39	107					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431903	66431903	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:66431903C>T	ENST00000383703.3	-	18	3304	c.2701_splice	c.e18+1	p.E901_splice	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Splice_Site_p.E924_splice			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	924						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATCTCATACCCATCTTATGT	0.502000													23	100					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10463698	10463698	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:10463698C>T	ENST00000317552.4	-	4	1190	c.790G>A	c.(790-792)Gag>Aag	p.E264K	MID1_ENST00000380787.1_Missense_Mutation_p.E264K|MID1_ENST00000380782.2_Missense_Mutation_p.E264K|MID1_ENST00000380785.1_Missense_Mutation_p.E264K|MID1_ENST00000453318.2_Missense_Mutation_p.E264K|MID1_ENST00000380779.1_Missense_Mutation_p.E264K|MID1_ENST00000380780.1_Missense_Mutation_p.E264K	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	264					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACACTCCTCTGTCAATTTG	0.373000													84	29					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38282795	38282795	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:38282795C>T	ENST00000412331.2	+	12	2181	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	EIF3L_ENST00000381683.6_Silent_p.T485T|EIF3L_ENST00000406934.1_Silent_p.T435T	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	533						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCGCGGACACCAAGGTCGCCA	0.557000													7	83					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90212813	90212813	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:90212813G>A	ENST00000300055.5	-	6	854	c.689C>T	c.(688-690)tCt>tTt	p.S230F	PLIN1_ENST00000430628.2_Missense_Mutation_p.S230F	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	230					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGTGTATCGAGAGAGGGTGTT	0.647000													29	52					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228020	28228020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28228020G>A	ENST00000343684.3	+	1	923	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	291										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTCTCAAGATGAAAAACCTTT	0.453000													33	95					0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36359618	36359618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:36359618G>A	ENST00000454782.2	-	5	817	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	29						peroxisome											AAGACAAAATGATCTAGTGCA	0.338000													41	159					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406008	85406008	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:85406008C>T	ENST00000258888.5	+	10	5045	c.4878C>T	c.(4876-4878)tcC>tcT	p.S1626S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1626	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAAGGCCTCCCAGGCCAAGG	0.622000													18	46					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212331	43212331	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:43212331G>A	ENST00000255226.6	+	5	1354	c.538G>A	c.(538-540)Gga>Aga	p.G180R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G180R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	180						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G180*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATTGCCTCAGGACTCCATGG	0.532000													7	133					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122303581	122303581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122303581C>T	ENST00000334010.7	-	3	917	c.496G>A	c.(496-498)Gga>Aga	p.G166R	CADPS2_ENST00000449022.2_Missense_Mutation_p.G166R|CADPS2_ENST00000412584.2_Missense_Mutation_p.G166R|CADPS2_ENST00000313070.7_Missense_Mutation_p.G166R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	166					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GAACACCCTCCACTCTGTACC	0.373000													5	26					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172182	21172182	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21172182G>A	ENST00000421593.2	+	2	86	c.85_splice	c.e2-1	p.G29_splice	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTCTTTCTAGGAAATTTGTTT	0.333000													17	25					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123526069	123526069	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123526069G>A	ENST00000422452.2	-	28	5584	c.5521C>T	c.(5521-5523)Cct>Tct	p.P1841S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.P1834S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGCTTACAGGAGACCACAGA	0.403000													4	84					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149659	193149659	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:193149659C>T	ENST00000367434.4	-	2	1789	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	345					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAGACAGATCCCTACATATAC	0.418000													36	88					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105792441	105792441	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:105792441C>T	ENST00000353479.5	-	55	4719	c.4429G>A	c.(4429-4431)Gga>Aga	p.G1477R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1395R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1477	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGTCTCCTTTTTCTCCC	0.547000													11	135					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196303014	196303014	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:196303014C>T	ENST00000367433.5	-	17	2061	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E654K|KCNT2_ENST00000451324.2_Missense_Mutation_p.E265K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E604K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	654						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTGTAGTTTCATCTTCTGAT	0.353000													33	50					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265910	89265910	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:89265910G>A	ENST00000464162.1	-	0	250																											TTTGTAAACTGGATGCAGCAT	0.502000													99	220					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61689619	61689619	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:61689619G>A	ENST00000577390.1	-	11	2615	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	CDH8_ENST00000299345.6_Missense_Mutation_p.S554F|CDH8_ENST00000577730.1_Missense_Mutation_p.S554F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATACTGAGGGAATTATCTGA	0.343000													12	24					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78467965	78467965	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:78467965C>T	ENST00000278550.7	-	19	3103	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ACCTGTGTCTCCTGGATGATG	0.592000													4	58					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090198	238090198	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:238090198G>A	ENST00000450451.1	+	0	1704					NR_027247.2																						GGCTTTGCTGGGGACGATGCC	0.602000													12	26					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105713701	105713701	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:105713701C>G	ENST00000258455.3	+	10	1128	c.1018C>G	c.(1018-1020)Cag>Gag	p.Q340E	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	340					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGTCAGCGCAGGCTGGAGC	0.562000													34	61					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6475498	6475498	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:6475498T>C	ENST00000276893.5	+	5	1139	c.971T>C	c.(970-972)tTa>tCa	p.L324S		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	324					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGAAAGTTTTTAAGTATGGAT	0.338000													9	100					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58517015	58517015	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:58517015C>G	ENST00000302819.5	-	7	1073	c.782G>C	c.(781-783)cGg>cCg	p.R261P	ACOX2_ENST00000459701.2_Intron	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	261					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCTGGGGACCCGCACATGGTT	0.547000													44	70					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227482	56227482	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56227482G>A	ENST00000341744.3	-	4	810	c.491C>T	c.(490-492)cCc>cTc	p.P164L	PMEPA1_ENST00000395814.1_Missense_Mutation_p.P114L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.P129L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.P114L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.P114L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	164					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGGGTGCAGGGGCCCTGGTA	0.652000													19	38					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728920	167728920	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167728920G>A	ENST00000230256.3	+	8	1529	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	UNC93A_ENST00000366829.2_Missense_Mutation_p.E410K	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	452						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAGGATGAAGAAATACAAAC	0.522000													74	190					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7830697	7830697	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7830697G>A	ENST00000303790.2	-	4	368	c.369C>T	c.(367-369)aaC>aaT	p.N123N	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	123						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TGTCAAACAGGTTTACACCAT	0.502000													13	299					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114522	145114522	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145114522G>A	ENST00000426825.1	-	3	424	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	115							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGTCCCCACGGGCTTGGGTG	0.647000													25	45					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47202165	47202165	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:47202165G>A	ENST00000319190.5	+	4	939	c.571G>A	c.(571-573)Gag>Aag	p.E191K	TTC7A_ENST00000409245.1_Missense_Mutation_p.E157K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E191K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	191							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGCCTGACAGAGAGGGAGGA	0.607000													51	90					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144036	55144036	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55144036G>A	ENST00000396331.1	+	7	1140	c.783G>A	c.(781-783)ggG>ggA	p.G261G	LILRB1_ENST00000448689.1_Silent_p.G261G|LILRB1_ENST00000396332.4_Silent_p.G261G|LILRB1_ENST00000324602.7_Silent_p.G261G|LILRB1_ENST00000396315.1_Silent_p.G261G|LILRB1_ENST00000396317.1_Silent_p.G261G|LILRB1_ENST00000418536.2_Silent_p.G261G|LILRB1_ENST00000396321.2_Silent_p.G261G|LILRB1_ENST00000396327.3_Silent_p.G261G|LILRB1_ENST00000427581.2_Silent_p.G297G|LILRB1_ENST00000434867.2_Silent_p.G261G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	261	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATAAGGACGGGGAACGTGACT	0.617000										HNSCC(37;0.09)			58	118					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358672	102358672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102358672C>T	ENST00000332238.4	+	1	307	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CATCTCCTTTCGGGGATGTAT	0.448000													12	184					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596760	158596760	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158596760G>A	ENST00000368148.3	-	41	5882	c.5702C>T	c.(5701-5703)tCc>tTc	p.S1901F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1898F|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1901					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)					CTCTATCTTGGAAGAAATCTC	0.423000													14	285					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186257302	186257302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186257302G>A	ENST00000392499.2	-	3	445	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36C	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GAGTTGCAGCGACTTAGGTAT	0.463000													36	90					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48204603	48204603	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48204603C>T	ENST00000396720.3	+	15	3808	c.3614C>T	c.(3613-3615)tCc>tTc	p.S1205F	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1205							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GTGTCTTCCTCCCGCTCGCTC	0.677000													12	26					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011099	30011099	+	Missense_Mutation	SNP	G	G	A	rs35392254		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:30011099G>A	ENST00000346128.6	-	21	3721	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	TJP1_ENST00000400011.2_Missense_Mutation_p.R1007C|TJP1_ENST00000356107.6_Missense_Mutation_p.R1083C|TJP1_ENST00000545208.2_Missense_Mutation_p.R1003C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1083					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATGGGGACGCGATCTTCGTAT	0.483000													90	160					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945864	72945864	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:72945864C>T	ENST00000311131.2	+	3	1127	c.660C>T	c.(658-660)ctC>ctT	p.L220L	P2RY2_ENST00000393597.2_Silent_p.L220L|P2RY2_ENST00000393596.2_Silent_p.L220L	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	220					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GTTACGTGCTCATGGCTCGGC	0.652000													32	87					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379651	88379651	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:88379651C>T	ENST00000298699.2	-	11	1282	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E329K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	368										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTTTGGGTTCCCTGTTAGCA	0.498000													54	101					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	106995060	106995060	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:106995060C>T	ENST00000357881.4	+	1	146	c.6C>T	c.(4-6)atC>atT	p.I2I	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000392842.1_Intron	NM_001206691.1	NP_001193620.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	0					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACAGAATGATCAAAAGGAGAG	0.632000													10	9					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862814	14862814	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14862814G>A	ENST00000285046.5	+	1	2346	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	FGD5_ENST00000543601.1_Missense_Mutation_p.E505K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	746					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGAGTCCTTTGAAGACCGCTC	0.582000													105	200					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312811	25312811	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:25312811T>A	ENST00000524413.1	+	3	1006	c.659T>A	c.(658-660)aTt>aAt	p.I220N	THNSL1_ENST00000376356.4_Missense_Mutation_p.I220N			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	220					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTGAATGCAATTAAAAGATAC	0.398000													44	78					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407685	150407685	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150407685G>A	ENST00000388825.4	+	5	767	c.675G>A	c.(673-675)agG>agA	p.R225R	GPX3_ENST00000517973.1_3'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	225					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	GGGTCAAGAGGAAGTAACTGA	0.557000													8	5					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52998885	52998885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52998885G>A	ENST00000259803.7	-	3	524	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	105						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGCTTCTGCCGGGCCTTGTCA	0.617000													38	81					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133898850	133898850	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133898850G>A	ENST00000220616.4	+	9	1273	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	TG_ENST00000377869.1_Silent_p.T411T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	411					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCCACCCACGATCAAGGAGC	0.537000													32	342					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432608	140432608	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140432608G>A	ENST00000306549.3	+	1	1630	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		518	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGCGCTGAGAACCATGGAT	0.433000													25	50					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088985	220088985	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:220088985G>A	ENST00000366926.3	-	4	1425	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L177L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	422					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACGTGAGCCAGAGGCAGTGCC	0.567000													11	154					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976642	119976642	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:119976642T>G	ENST00000313400.4	-	3	1110	c.1010A>C	c.(1009-1011)aAg>aCg	p.K337T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.K337T|ASTN2_ENST00000361209.2_Missense_Mutation_p.K337T			O75129	ASTN2_HUMAN	astrotactin 2	337						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCACCTTTCTTCTCAAAGTC	0.562000													7	250					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45390254	45390254	+	Missense_Mutation	SNP	G	G	A	rs148718959		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:45390254G>A	ENST00000389039.6	-	27	3903	c.3518C>T	c.(3517-3519)tCc>tTc	p.S1173F	DUOX2_ENST00000603300.1_Missense_Mutation_p.S1173F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1173	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGAAGCTTGGACCTGGGGGG	0.582000													17	45					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971511	55971511	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:55971511G>A	ENST00000389286.4	-	7	1153	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	369	Ig-like 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTACCATTCGAATGTATCTT	0.378000													16	38					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819167	20819167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:20819167G>A	ENST00000328879.4	-	4	1246	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	KLHL22_ENST00000440659.2_Nonsense_Mutation_p.R221*	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTCTGCTCGAAATCCTTGG	0.567000													50	111					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95103648	95103648	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95103648C>T	ENST00000371501.4	-	38	4413	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	MYOF_ENST00000359263.4_Missense_Mutation_p.E1431K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1418K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1431K			Q9NZM1	MYOF_HUMAN	myoferlin	1431					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTCCATTTCGATAACGATG	0.428000													37	60					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890105	156890105	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156890105C>T	ENST00000311946.7	+	2	343	c.227C>T	c.(226-228)tCc>tTc	p.S76F	NIPAL4_ENST00000435489.2_Missense_Mutation_p.S76F|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	76						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CATCCAGGTTCCCTGCTCCAC	0.527000													38	81					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700902	44700902	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44700902C>T	ENST00000396056.2	+	4	1282	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.L189L|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	349					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCTCAAACCTCATTGTCCACC	0.453000													26	59					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743337	38743337	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38743337G>A	ENST00000449082.2	-	26	4649	c.4650C>T	c.(4648-4650)tcC>tcT	p.S1550S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1550					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TACTCGCAATGGAGAGAACCA	0.488000													17	59					0	0	1	0	0
LOC642943	642943	broad.mit.edu	37	9	95646877	95646877	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95646877G>A	ENST00000446878.1	+	0	411				ANKRD19P_ENST00000473204.1_RNA																							AGGCCTGGAGGAGACTTGGGA	0.592000													73	196					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898455	23898455	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23898455C>T	ENST00000355349.3	-	13	1402	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	414	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACATTCTGCCCCTTGGTGACG	0.567000													54	151					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149459700	149459700	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:149459700G>A	ENST00000286301.3	-	4	798	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CSF1R_ENST00000543093.1_Silent_p.F169F	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	169	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCTCTGAATGAACTTGGCCC	0.607000													27	60					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400708	113400708	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:113400708G>A	ENST00000228928.7	+	9	2263		c.e9+1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAAAACCCAGGTGAAGACCCG	0.557000													108	290					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250677	122250677	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:122250677C>T	ENST00000394427.2	-	6	1499	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	363						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TCCTGAATTTCCATGCCTTTG	0.363000													65	128					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943108	232943108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:232943108G>A	ENST00000418460.1	+	1	2466	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ATTCTGGGAGGAAATGTGGAA	0.353000													87	98					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141554373	141554373	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:141554373A>T	ENST00000220592.5	-	14	1890	c.1778T>A	c.(1777-1779)tTt>tAt	p.F593Y	AGO2_ENST00000519980.1_Missense_Mutation_p.F593Y	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGCTCCCAGAAAGATGACGGG	0.647000													6	219					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100195477	100195477	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:100195477G>A	ENST00000325103.6	-	4	403	c.170C>T	c.(169-171)tCc>tTc	p.S57F	HPS1_ENST00000361490.4_Missense_Mutation_p.S57F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.S57F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	57					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGTCATGGAGGAGATGATGAC	0.547000									Hermansky-Pudlak syndrome				35	103					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127424307	127424307	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:127424307C>T	ENST00000337623.3	+	12	1595	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	C10orf137_ENST00000356792.4_Missense_Mutation_p.S531F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGAGAATTCTGATGAAAGT	0.373000													26	65					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959629	16959629	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:16959629G>A	ENST00000412962.1	-	0	74																											ACCCACCAGGGACCCTCCTGG	0.602000													13	104					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(1)		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)				TGGTGTTTTTCGTCCTTGCAC	0.438000													67	94					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454600	47454600	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:47454600A>C	ENST00000265562.4	+	25	4913	c.4836A>C	c.(4834-4836)caA>caC	p.Q1612H	PTPN23_ENST00000431726.1_Missense_Mutation_p.Q1486H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1612					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATAACGGGCAAGGGCTGCGGG	0.607000													31	65					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80295759	80295759	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:80295759G>A	ENST00000435819.1	+	11	1386	c.701_splice	c.e11-1	p.R234_splice	CD36_ENST00000432207.1_Splice_Site_p.R234_splice|CD36_ENST00000534394.1_Splice_Site_p.R158_splice|CD36_ENST00000447544.2_Splice_Site_p.R234_splice|CD36_ENST00000544133.1_Splice_Site_p.R234_splice|CD36_ENST00000309881.7_Splice_Site_p.R234_splice|CD36_ENST00000433696.2_Intron|CD36_ENST00000394788.3_Splice_Site_p.R234_splice|CD36_ENST00000538969.1_Splice_Site_p.R174_splice			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	234					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						CTATTCCTAGGAATCTGTCCT	0.313000													26	101					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26823585	26823585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26823585G>A	ENST00000444914.3	+	11	2155	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N	SLC13A2_ENST00000545060.1_Missense_Mutation_p.D487N|SLC13A2_ENST00000314669.5_Missense_Mutation_p.D530N|SLC13A2_ENST00000537681.1_Missense_Mutation_p.D459N	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	530						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTCTTTCGGGGACCTCAAAGT	0.557000													47	104					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002814	69002814	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:69002814G>A	ENST00000288368.4	+	20	2391	c.2113_splice	c.e20-1	p.G705_splice	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	705	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTATTTATAGGAACTGTGGCT	0.353000													29	96					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14533139	14533139	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:14533139C>T	ENST00000358970.5	-	5	975	c.976G>A	c.(976-978)Gag>Aag	p.E326K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	326										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACATTTTGCTCAAGGAGAAGA	0.373000													103	166					0	0	1	0	0
STK32A	202374	broad.mit.edu	37	5	146754674	146754674	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:146754674C>T	ENST00000397936.3	+	11	1258	c.925C>T	c.(925-927)Cct>Tct	p.P309S	STK32A_ENST00000398523.3_Missense_Mutation_p.P309S	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	309							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATTGTGATCCTACCTTTGA	0.398000													6	14					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92430582	92430582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92430582C>T	ENST00000298047.6	+	3	3657	c.3640C>T	c.(3640-3642)Cga>Tga	p.R1214*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1214*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1064*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1214	Cadherin 11.				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)				GAAATTGGATCGAGAACAGCA	0.373000										TCGA Ovarian(4;0.039)			16	42					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476346	42476346	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:42476346G>A	ENST00000434000.1	-	9	3147	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	GPATCH8_ENST00000591680.1_Silent_p.S1033S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1033	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGGGGACTGGGAGCGGTAGA	0.562000													30	58					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847590	95847590	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:95847590C>T	ENST00000398107.2	+	4	1413	c.891C>T	c.(889-891)gaC>gaT	p.D297D	ZNF2_ENST00000425369.1_Silent_p.D259D|ZNF2_ENST00000295210.6_Silent_p.D301D|ZNF2_ENST00000453539.2_Silent_p.D352D|ZNF2_ENST00000340539.5_Silent_p.D339D	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATGCTGGGGACCCTCGCTATC	0.483000													33	83					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610777	95610777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95610777G>A	ENST00000395505.2	-	3	276	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	ZNF484_ENST00000332591.6_Nonsense_Mutation_p.Q62*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.Q98*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.Q100*	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTCAGACTGGAAAGAAACT	0.333000													33	68					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15484055	15484055	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15484055G>A	ENST00000269701.2	-	5	528	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	156					signal transduction	nuclear matrix		p.F156F(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ACCCCAGGTCGAACTCATAGT	0.652000													29	72					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22563767	22563767	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:22563767C>T	ENST00000550753.1	+	0	1422					NR_003676.2																						CTAAATAATTCCTCTGGGCTG	0.478000													22	216					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5223146	5223146	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5223146G>A	ENST00000372412.4	-	18	2893	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	PTPRS_ENST00000587303.1_Missense_Mutation_p.S886F|PTPRS_ENST00000262963.6_Missense_Mutation_p.S882F|PTPRS_ENST00000357368.4_Missense_Mutation_p.S886F|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.S864F|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.S864F|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	886	Fibronectin type-III 6.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTCCTCGGAGGGCGGGAA	0.731000													6	12					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3410560	3410560	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:3410560C>T	ENST00000356575.4	-	33	4484	c.4258_splice	c.e33+1	p.G1420_splice	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1420						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)		AAGCACTCACCCCTCTCACAG	0.687000													13	15					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903850	70903850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70903850C>T	ENST00000413157.2	-	13	2150	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	ADD2_ENST00000264436.3_Intron|ADD2_ENST00000430656.1_Silent_p.Q573Q|ADD2_ENST00000355733.3_Intron|ADD2_ENST00000407644.2_Intron	NM_017482.3	NP_059516.2	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTCAGGGGTCCTGCAACCCAG	0.622000													19	13					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287021	130287021	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130287021G>A	ENST00000358511.6	+	5	2005	c.1974G>A	c.(1972-1974)cgG>cgA	p.R658R	COL6A6_ENST00000453409.2_Silent_p.R658R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCAGATCGGGTGCAAATTG	0.413000													67	130					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300777	103300777	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103300777C>T	ENST00000233969.2	+	5	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	469						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						TTGTCATATTCTTTACTGTCT	0.403000													73	153					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281581	103281581	+	Missense_Mutation	SNP	C	C	T	rs146727651		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103281581C>T	ENST00000233969.2	+	3	918	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	259						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						TTGTTCAAGTCGTTTTGCCAG	0.453000													80	169					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968369	38968369	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38968369C>G	ENST00000302328.3	-	4	740	c.542G>C	c.(541-543)aGa>aCa	p.R181T	SCN11A_ENST00000444237.2_Missense_Mutation_p.R181T|SCN11A_ENST00000456224.3_Missense_Mutation_p.R181T|SCN11A_ENST00000450244.1_Missense_Mutation_p.R181T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	181					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)	AATGAAACCTCTTGCCAATAT	0.338000													52	95					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32458720	32458720	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:32458720G>A	ENST00000548411.1	+	4	850	c.669G>A	c.(667-669)ttG>ttA	p.L223L	BICD1_ENST00000281474.5_Silent_p.L223L	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	223					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCATCCGATTGAAAGAGATTG	0.458000													50	50					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210385	126210385	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:126210385C>T	ENST00000368357.3	+	10	1537	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S	NCOA7_ENST00000392477.2_Silent_p.S395S|NCOA7_ENST00000229634.9_Silent_p.S280S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	395					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGGAACCTTCCGACACTTCTT	0.448000													25	74					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193070310	193070310	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:193070310A>G	ENST00000367440.3	-	2	622	c.147T>C	c.(145-147)tcT>tcC	p.S49S	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Silent_p.S48S	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	48					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AATTCTCCAAAGATGATGATG	0.343000													6	88					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666531	15666531	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:15666531C>T	ENST00000262041.5	-	2	939	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	177					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)		CTTGTAATTTCCTTCCTGGGA	0.348000													48	91					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552978	140552978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140552978G>A	ENST00000231137.3	+	1	736	c.562G>A	c.(562-564)Ggg>Agg	p.G188R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		188	Cadherin 2.				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)			TAGCGGGGAGGGGAATATCTA	0.493000													36	65					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490421	149490421	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149490421G>A	ENST00000378016.2	+	0	5897							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGAGGGGTGTGAGCAT	0.647000													13	38					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29581167	29581167	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29581167G>A	ENST00000377034.4	-	12	1754	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	GABBR1_ENST00000355973.3_Silent_p.A356A|GABBR1_ENST00000377016.4_Silent_p.A411A|GABBR1_ENST00000377012.4_Silent_p.A356A|GABBR1_ENST00000376977.3_Silent_p.A473A	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	473					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGGCCCAGATGGCATCATAGG	0.562000													48	228					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44582525	44582525	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44582525G>A	ENST00000322927.2	-	18	2605	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	ZNF335_ENST00000426788.1_Silent_p.S680S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CACCTTCAGGGGAGGGCTGCC	0.667000													7	30					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79073861	79073861	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79073861C>T	ENST00000321300.6	+	7	716	c.623C>T	c.(622-624)tCc>tTc	p.S208F	BAIAP2_ENST00000435091.3_Missense_Mutation_p.S208F|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S241F|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S208F|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S208F|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S71F|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S208F|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S130F	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	208	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCAAGAACTCCGCGGCCTAC	0.672000													24	73					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669980	24669980	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24669980G>A	ENST00000376454.3	+	3	567	c.537G>A	c.(535-537)acG>acA	p.T179T	KIAA1217_ENST00000376452.3_Silent_p.T179T|KIAA1217_ENST00000430453.2_Silent_p.T100T|KIAA1217_ENST00000376462.1_Silent_p.T99T|KIAA1217_ENST00000458595.1_Silent_p.T179T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	179					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAACCAGACGAAAGAAAGAT	0.478000													31	60					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946161	38946161	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38946161G>A	ENST00000355481.4	+	15	1778	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K	RYR1_ENST00000360985.3_Silent_p.K549K|RYR1_ENST00000359596.3_Silent_p.K549K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	549					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	TGGTCAGCAAGCTGGATCGGC	0.587000													37	58					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467284	56467284	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56467284C>T	ENST00000291971.3	+	3	1931	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	NLRP8_ENST00000590542.1_Silent_p.A620A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	620						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGGAGGAAGCCTTTGTAAGCC	0.453000													6	113					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38770974	38770974	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38770974C>T	ENST00000359357.3	+	20	2524	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A757V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A974V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGAATGGGCTGACATTCTA	0.303000													19	66					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877070	16877070	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:16877070G>A	ENST00000377833.4	-	64	10370	c.10305C>T	c.(10303-10305)ctC>ctT	p.L3435L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3435	CUB 26.				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)	AATGAAAAAAGAGGGAAATGG	0.423000													31	74					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48805955	48805955	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:48805955C>T	ENST00000315396.7	-	10	1807	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	375										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCTCACCAGCCTTGAGCTTCT	0.642000													44	72					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365398	128365398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:128365398C>T	ENST00000262462.4	+	9	2691	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Q561*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Q561*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	561					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTAAGAATTCAGGTAATTTT	0.279000													23	39					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780333	113780333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113780333G>A	ENST00000259213.4	-	6	520	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	138					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGTTGAAAGGAACTCTTCCA	0.433000													19	63					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135379792	135379792	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135379792G>A	ENST00000442011.2	+	3	440	c.279G>A	c.(277-279)ggG>ggA	p.G93G	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.G93G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	93	EMI.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTCCCTGGGGAGAAGGGCT	0.532000													65	163					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95396671	95396671	+	Silent	SNP	C	C	T	rs112068349	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95396671C>T	ENST00000287996.3	-	11	1443	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	IPPK_ENST00000375522.1_Silent_p.T61T	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	389					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TGCCCACCTTCGTTAGCGCGA	0.423000											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974085	64974085	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:64974085A>G	ENST00000399262.2	-	8	2060	c.1842T>C	c.(1840-1842)caT>caC	p.H614H	JMJD1C_ENST00000402544.1_Silent_p.H395H|JMJD1C_ENST00000542921.1_Silent_p.H432H|JMJD1C_ENST00000399251.1_Silent_p.H395H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	614					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACTTCGCTTATGCAGCTTAT	0.373000													51	89					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701716	143701716	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143701716C>T	ENST00000408922.2	+	1	695	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTTCCTATTCCCACTCTTTA	0.468000													54	248					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767880	31767880	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:31767880C>T	ENST00000240587.4	-	2	3146	c.2819G>A	c.(2818-2820)gGg>gAg	p.G940E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572000													14	54					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507266	76507266	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:76507266C>T	ENST00000527881.1	+	2	1632	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TSKU_ENST00000333090.4_Silent_p.L202L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	202						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGCCCAACCTCCGAGACTTGC	0.672000													65	149					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624588	53624588	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:53624588G>A	ENST00000219022.2	+	5	1293	c.1215G>A	c.(1213-1215)atG>atA	p.M405I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	405	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTGGTAACATGGTGATTAGTA	0.413000													52	142					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56290392	56290392	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:56290392G>A	ENST00000393119.2	-	8	883	c.809C>T	c.(808-810)cCc>cTc	p.P270L	MKS1_ENST00000313863.6_Missense_Mutation_p.P270L|MKS1_ENST00000537529.2_Missense_Mutation_p.P260L|MKS1_ENST00000546108.1_Missense_Mutation_p.P67L|MKS1_ENST00000337050.7_Missense_Mutation_p.P270L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	270					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGCGTGGGGGGAAACATT	0.522000													41	121					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274272	74274272	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74274272C>T	ENST00000409262.3	+	1	823	c.823C>T	c.(823-825)Cct>Tct	p.P275S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	275							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTGTGGTTCCTCCTGAAGA	0.597000													42	64					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188518	70188518	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70188518G>A	ENST00000320256.4	-	1	879	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	101					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GTTCCGGGACGAAGGCATGCT	0.582000													39	88					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74646166	74646166	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:74646166G>A	ENST00000287936.4	+	8	903	c.747G>A	c.(745-747)ccG>ccA	p.P249P	HMGCR_ENST00000511206.1_Silent_p.P249P|HMGCR_ENST00000343975.5_Silent_p.P249P	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	249					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AAAATAAGCCGAATCCTGTAA	0.393000													6	99					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098399	69098399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69098399G>A	ENST00000295379.1	-	1	250	c.92C>T	c.(91-93)cCt>cTt	p.P31L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	31					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCTTCCAGAGGAGACTGCTC	0.502000													41	101					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307279	46307279	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46307279C>T	ENST00000357422.2	+	4	1173	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CCR3_ENST00000541018.1_Silent_p.L210L|CCR3_ENST00000395942.2_Silent_p.L210L|CCR3_ENST00000545097.1_Silent_p.L231L|CCR3_ENST00000395940.2_Silent_p.L210L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	210					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCTCGTTCTCCCTCTGCTCG	0.463000													22	72					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761799	160761799	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:160761799G>A	ENST00000274547.2	-	8	1009	c.792C>T	c.(790-792)ttC>ttT	p.F264F	GABRB2_ENST00000520240.1_Silent_p.F264F|GABRB2_ENST00000393959.1_Silent_p.F264F|GABRB2_ENST00000517547.1_Silent_p.F104F|GABRB2_ENST00000353437.6_Silent_p.F264F|GABRB2_ENST00000517901.1_Silent_p.F201F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	264					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATTAATCCAGAAGGAGACCC	0.433000													33	67					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447430	24447430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24447430C>T	ENST00000270800.1	-	7	1628	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	530						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCAGCAGGCCCCAGGGACTTG	0.607000													36	59					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430156	190430156	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:190430156C>T	ENST00000261024.2	-	6	1110	c.684G>A	c.(682-684)caG>caA	p.Q228Q		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	228					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CTGGGGTTTTCTGGTAAACCT	0.443000													6	91					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142532	18142532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:18142532C>T	ENST00000278816.2	+	6	1401	c.751C>T	c.(751-753)Cct>Tct	p.P251S	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P123S|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.P250S|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.P251S			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	251					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAGTCGGAATCCTGTGGAATC	0.443000													86	131					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55124952	55124952	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:55124952C>A	ENST00000257290.5	+	2	348	c.17C>A	c.(16-18)cCg>cAg	p.P6Q	PDGFRA_ENST00000508170.1_Missense_Mutation_p.P6Q|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	6					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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			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)	ACTTCCCATCCGGCGTTCCTG	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			44	115					2.68985e-26	2.72057e-26	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54756238	54756238	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54756238C>T	ENST00000450632.1	-	11	1617	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	LILRB5_ENST00000345866.6_Missense_Mutation_p.E423K|LILRB5_ENST00000316219.5_Missense_Mutation_p.E522K|LILRB5_ENST00000449561.2_Missense_Mutation_p.E523K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	522					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)		CTGAGAATTTCCTCCTGGATG	0.617000													44	93					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752615	151752615	+	Splice_Site	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151752615A>C	ENST00000368822.1	-	4	866	c.231_splice	c.e4-1	p.L78_splice	TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Splice_Site_p.L78_splice|TDRKH_ENST00000368827.6_Splice_Site_p.L78_splice|TDRKH_ENST00000368824.3_Splice_Site_p.L78_splice|TDRKH_ENST00000368823.1_Intron|TDRKH_ENST00000458431.2_Splice_Site_p.L78_splice			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	78	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTTTCCGCAGCTGCAAAGA	0.488000													67	105					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375656	93375656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:93375656C>T	ENST00000375765.3	-	2	842	c.454G>A	c.(454-456)Gcc>Acc	p.A152T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	152					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.A152T(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTGAGCTTGGCTGAGGTCTCC	0.592000													40	64					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783884	54783884	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54783884G>A	ENST00000391748.1	-	4	244	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRB2_ENST00000314446.5_Silent_p.I39I|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391749.4_Silent_p.I39I|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391746.1_Silent_p.I39I	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCCTGGGTGATCACAGAGT	0.527000													77	170					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486970	125486970	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:125486970G>A	ENST00000259466.1	+	1	702	c.702G>A	c.(700-702)ggG>ggA	p.G234G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	234			G -> R (in dbSNP:rs2215530).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTGCAGCCGGGAAGTGGAAGG	0.512000													87	294					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257917	57257917	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57257917C>T	ENST00000343433.6	-	2	649	c.569G>A	c.(568-570)gGa>gAa	p.G190E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	190								p.G190E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTCTGGGCTCCTTTTGTTTC	0.463000													58	90					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841511	4841511	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4841511C>T	ENST00000399583.3	-	12	2802	c.2615G>A	c.(2614-2616)aGg>aAg	p.R872K	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.R632K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	872	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGAGCCCCCCTCAAGGGAAG	0.736000													9	11					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130869423	130869423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:130869423C>T	ENST00000373066.5	+	10	1693	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	SLC25A25_ENST00000373064.5_Missense_Mutation_p.P397L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P431L|SLC25A25_ENST00000373069.5_Missense_Mutation_p.P443L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P294L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P417L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	397					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GCCAGCTACCCCCTGGCCCTA	0.657000													43	78					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67323565	67323565	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67323565C>T	ENST00000304372.5	-	16	2743	c.2688G>A	c.(2686-2688)agG>agA	p.R896R		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	896						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCATATTTCCTGGCGAAGG	0.542000													27	26					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572687	140572687	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140572687G>A	ENST00000239446.4	+	1	746	c.562G>A	c.(562-564)Ggc>Agc	p.G188S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		188	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGATGAAGGCATGATATA	0.493000													79	217					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262467	7262467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7262467C>T	ENST00000361972.4	-	11	1326	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	412					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTCAAGTTTCATGTTCTTTG	0.517000													64	126					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27076587	27076587	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27076587C>T	ENST00000262395.5	+	7	1534	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	TRAF4_ENST00000262396.6_Missense_Mutation_p.L194F|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	469					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCGGAAGATCCTCAGCTGAGT	0.577000													31	68					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849320	14849320	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14849320G>A	ENST00000261170.3	-	1	199	c.63C>T	c.(61-63)tcC>tcT	p.S21S	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	21					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGGAACTAAAGGACAGCCACC	0.527000													22	28					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949505	7949505	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:7949505T>A	ENST00000309838.2	-	1	704	c.705A>T	c.(703-705)caA>caT	p.Q235H		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAGGCCTTTTGTCTCCCAG	0.453000													32	29					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95840707	95840707	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:95840707C>T	ENST00000376887.4	-	10	1467	c.1353_splice	c.e10+1	p.K451_splice	ABCC4_ENST00000412704.1_Splice_Site_p.K451_splice|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Splice_Site_p.K451_splice|ABCC4_ENST00000536256.1_Splice_Site_p.K376_splice	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	451	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCTAACTCACCTTCCCTGCTC	0.483000													37	56					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41420033	41420033	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:41420033C>T	ENST00000373198.3	-	3	523	c.288G>A	c.(286-288)aaG>aaA	p.K96K	PTPRT_ENST00000373190.1_Silent_p.K96K|PTPRT_ENST00000373193.3_Silent_p.K96K|PTPRT_ENST00000373201.1_Silent_p.K96K|PTPRT_ENST00000373184.1_Silent_p.K96K|PTPRT_ENST00000373187.1_Silent_p.K96K|PTPRT_ENST00000356100.2_Silent_p.K96K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	96	MAM.				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)				TGTCATTCTCCTTCAGGGTTG	0.567000													23	32					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138588373	138588373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138588373C>T	ENST00000440172.1	-	8	3678	c.3630G>A	c.(3628-3630)tgG>tgA	p.W1210*	KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.W1210*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.W1160*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1210						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGCCCTTCTCCACATCCGCC	0.572000			O	BRAF	pilocytic astrocytoma								17	42					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54562033	54562033	+	Missense_Mutation	SNP	C	C	T	rs150173822	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:54562033C>T	ENST00000234827.1	+	5	714	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R202W	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	172	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						TGGGCCGTACCGGCGGACGGT	0.502000													12	114					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946010	50946010	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50946010G>A	ENST00000374103.4	-	19	2585	c.2500C>T	c.(2500-2502)Ctg>Ttg	p.L834L	OGDHL_ENST00000419399.1_Silent_p.L777L|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.L625L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	834					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGAAGGGCAGCAGGATCTGC	0.647000													65	156					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323365	137323365	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:137323365C>T	ENST00000367748.1	-	6	1245	c.659G>A	c.(658-660)gGa>gAa	p.G220E	IL20RA_ENST00000541547.1_Missense_Mutation_p.G282E|IL20RA_ENST00000316649.5_Missense_Mutation_p.G331E			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	331	Fibronectin type-III 2.					integral to membrane	receptor activity	p.G331V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ACTGCTTTTTCCCAGTAAACT	0.433000													57	32					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96078287	96078287	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96078287C>T	ENST00000233379.4	+	6	944	c.791C>T	c.(790-792)tCc>tTc	p.S264F	FAHD2A_ENST00000447036.1_Missense_Mutation_p.S264F	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	264							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCTGGGTCTCCCAGTGAGTG	0.582000													45	79					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040794	103040794	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103040794C>T	ENST00000264260.2	+	5	1088	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L25F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	167	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						agacctacttcttgggagcac	0.458000													40	75					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49684710	49684710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49684710C>T	ENST00000252826.5	+	10	1381	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*	TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.Q419*|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	419					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGGACATCCAATGGCGGGT	0.552000													11	78					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604275	189604275	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189604275T>C	ENST00000264731.3	+	11	1531	c.1442T>C	c.(1441-1443)cTt>cCt	p.L481P	TP63_ENST00000392460.3_Missense_Mutation_p.L481P|TP63_ENST00000449992.1_Missense_Mutation_p.L302P|TP63_ENST00000456148.1_Missense_Mutation_p.L383P|TP63_ENST00000392463.2_Missense_Mutation_p.L387P|TP63_ENST00000382063.4_Missense_Mutation_p.L396P|TP63_ENST00000320472.5_Missense_Mutation_p.L481P|TP63_ENST00000440651.2_Missense_Mutation_p.L477P|TP63_ENST00000392461.3_Missense_Mutation_p.L387P|TP63_ENST00000354600.5_Missense_Mutation_p.L387P	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	481					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTGAGCCAGCTTATCAACCCT	0.498000										HNSCC(45;0.13)			33	89					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134113296	134113296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:134113296G>A	ENST00000452510.2	+	6	804	c.646G>A	c.(646-648)Gag>Aag	p.E216K	DDX46_ENST00000354283.4_Missense_Mutation_p.E216K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	216					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGAAAAGGAGGGAAATGA	0.353000													41	83					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90699426	90699426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:90699426C>T	ENST00000458208.1	-	7	1120	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E216K|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	216					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CACAGTTTCTCCTTGATGTCC	0.493000													20	44					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978267	38978267	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38978267C>T	ENST00000269576.5	-	1	580	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	191	Gly-rich.|Linker 1.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CGAGGCTCCCCCTGATGTGAG	0.423000													79	191					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110416246	110416246	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:110416246G>A	ENST00000519681.1	+	12	1272	c.829_splice	c.e12-1	p.R277_splice	PAK3_ENST00000518291.1_Splice_Site_p.R292_splice|PAK3_ENST00000425146.1_Splice_Site_p.R256_splice|PAK3_ENST00000360648.4_Splice_Site_p.R292_splice|PAK3_ENST00000262836.4_Splice_Site_p.R271_splice|PAK3_ENST00000446737.1_Splice_Site_p.R256_splice|PAK3_ENST00000417227.1_Splice_Site_p.R277_splice|PAK3_ENST00000372007.4_Splice_Site_p.R256_splice|PAK3_ENST00000372010.1_Splice_Site_p.R271_splice			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	271	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CATCTCTTAGGAAGCATTGTG	0.348000										TSP Lung(19;0.15)			13	4					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815797	31815797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:31815797G>A	ENST00000446923.2	+	9	3323	c.2932G>A	c.(2932-2934)Gac>Aac	p.D978N	ZEB1_ENST00000320985.10_Missense_Mutation_p.D994N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D974N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D995N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D927N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	994					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGAAGAACGTGACAGCACAGA	0.532000													20	43					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118514544	118514544	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:118514544C>T	ENST00000336338.5	-	45	6333	c.6268G>A	c.(6268-6270)Gaa>Aaa	p.E2090K	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2090						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTATGTCCTTCCTTAAGCACT	0.468000													31	57					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259234	147259234	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147259234C>T	ENST00000361727.3	+	12	2298	c.1782C>T	c.(1780-1782)atC>atT	p.I594I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	594	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCTAGCTATCTACGAGCCTT	0.448000										HNSCC(39;0.1)			33	126					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83676436	83676436	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:83676436A>G	ENST00000398309.2	-	8	1287	c.817T>C	c.(817-819)Tat>Cat	p.Y273H	DLG2_ENST00000280241.8_Missense_Mutation_p.Y312H|DLG2_ENST00000398301.2_Missense_Mutation_p.Y312H|DLG2_ENST00000418306.2_Missense_Mutation_p.Y222H|DLG2_ENST00000543673.1_Missense_Mutation_p.Y378H|DLG2_ENST00000531015.1_Missense_Mutation_p.Y240H|DLG2_ENST00000537455.1_Missense_Mutation_p.Y27H|DLG2_ENST00000524982.1_Missense_Mutation_p.Y273H|DLG2_ENST00000330014.6_Missense_Mutation_p.Y212H|DLG2_ENST00000376104.2_Missense_Mutation_p.Y378H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.Y273H	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	273	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTTTTAAATAAACTACCTCT	0.353000													8	201					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459782	82459782	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:82459782G>A	ENST00000369754.3	-	3	1328	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	FAM46A_ENST00000369756.3_Missense_Mutation_p.S401F|FAM46A_ENST00000320172.6_Missense_Mutation_p.S320F			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	320										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GAAAAACCTGGAACACATATA	0.488000													22	56					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923897	92923897	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:92923897C>T	ENST00000327111.3	+	2	2425	c.738C>T	c.(736-738)acC>acT	p.T246T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	246					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCAGATCACCGACCAGGTGT	0.662000													47	89					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199302	71199302	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:71199302G>A	ENST00000554752.2	-	11	2783	c.2784C>T	c.(2782-2784)gcC>gcT	p.A928A	MAP3K9_ENST00000555993.2_Silent_p.A942A|MAP3K9_ENST00000553414.1_Silent_p.A661A|MAP3K9_ENST00000381250.4_Silent_p.A905A|MAP3K9_ENST00000554146.1_Silent_p.A656A			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	928	Pro-rich.				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)		GGCTCCTGCTGGCTAGGAGAG	0.597000													42	87					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	174										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547000													126	252					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616491	73616491	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:73616491C>T	ENST00000261917.3	-	7	3075	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	694					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGGGTACTCCTCCAGCACCT	0.687000													38	139					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563248	21563248	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:21563248G>A	ENST00000382592.4	-	4	1076	c.671C>T	c.(670-672)cCc>cTc	p.P224L	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.P224L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	224					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGGTGGCCGGGCCCGTGGGG	0.726000													5	37					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36106232	36106232	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36106232C>T	ENST00000203166.5	+	6	454	c.429C>T	c.(427-429)ctC>ctT	p.L143L	HAUS5_ENST00000379045.2_Silent_p.L143L	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	143					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCATACGCTCCGAGATCCCA	0.652000													8	23					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105393493	105393493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:105393493G>A	ENST00000394767.2	-	3	1540	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	CXXC4_ENST00000426831.1_Nonsense_Mutation_p.R195*|CXXC4_ENST00000466963.1_5'UTR	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	195					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.R195R(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		AAGAACCATCGGAATGCTTCA	0.348000													45	125					0	0	1	0	0
LIN37	55957	broad.mit.edu	37	19	36243354	36243354	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36243354G>C	ENST00000301159.9	+	3	494	c.130G>C	c.(130-132)Gct>Cct	p.A44P	AC002398.9_ENST00000591613.2_3'UTR|AC002398.11_ENST00000591091.1_RNA	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	44							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATGAGGAAGCTGGGAAAAC	0.517000													6	38					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131283104	131283104	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:131283104C>T	ENST00000512055.1	-	15	3143	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	CPNE4_ENST00000512332.1_Silent_p.L357L|CPNE4_ENST00000511604.1_Silent_p.L339L|CPNE4_ENST00000502818.1_Silent_p.L357L|CPNE4_ENST00000429747.1_Silent_p.L339L			Q96A23	CPNE4_HUMAN	copine IV	339	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCAAAGCTTTCAGATACTCAT	0.478000													44	88					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17880980	17880980	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:17880980G>A	ENST00000313838.8	+	4	447	c.68G>A	c.(67-69)gGg>gAg	p.G23E	LRRC48_ENST00000399187.1_Missense_Mutation_p.G23E|LRRC48_ENST00000411504.2_Missense_Mutation_p.G23E|LRRC48_ENST00000584166.1_Missense_Mutation_p.G23E|LRRC48_ENST00000399182.1_Missense_Mutation_p.G23E	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	23						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTGGCCGTCGGGGACCAGGGC	0.597000													29	63					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085363	87085363	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:87085363C>T	ENST00000390655.6	-	2	278	c.220G>A	c.(220-222)Gat>Aat	p.D74N	CD8B_ENST00000349455.3_Missense_Mutation_p.D74N|CD8B_ENST00000393761.2_Missense_Mutation_p.D74N|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.D74N|CD8B_ENST00000393759.2_Missense_Mutation_p.D74N	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	74	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGCGGAATCCCAGAGGGCC	0.542000													43	82					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39141230	39141230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39141230C>T	ENST00000351578.6	-	4	1496	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	FYB_ENST00000505428.1_Missense_Mutation_p.E436K|FYB_ENST00000512982.1_Missense_Mutation_p.E436K|FYB_ENST00000515010.1_Missense_Mutation_p.E436K|FYB_ENST00000540520.1_Missense_Mutation_p.E446K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	436	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGATTGTCTTCATTGACAGGG	0.343000													4	22					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129421	68129421	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:68129421G>A	ENST00000585558.1	+	4	1686	c.1298G>A	c.(1297-1299)aGg>aAg	p.R433K	KCNJ16_ENST00000283936.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R437K|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R398K			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	398					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CATGAATATAGGGAAACACCT	0.453000													27	112					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839558	100839558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100839558C>T	ENST00000223114.4	-	6	947	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	MOGAT3_ENST00000440203.2_Missense_Mutation_p.G261S|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	261					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGAGAGAAGCCCATGAGCTTC	0.577000													8	38					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358508	124358508	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124358508G>A	ENST00000338354.3	+	26	3281	c.3175G>A	c.(3175-3177)Gat>Aat	p.D1059N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D1049N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1049N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1059N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D560N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D560N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1059	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGATGTGCGCTG	0.592000													11	243					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52226432	52226432	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:52226432C>T	ENST00000371710.3	+	10	889	c.707C>T	c.(706-708)tCc>tTc	p.S236F	OSBPL9_ENST00000361556.5_Missense_Mutation_p.S108F|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S228F|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S137F|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S201F|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S53F|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S40F|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S53F|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S205F|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S40F|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S223F|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S218F	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	218					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ACAATGCCTTCCCAGACTGTG	0.348000													37	74					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98737774	98737774	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98737774G>A	ENST00000477737.1	+	5	759	c.555G>A	c.(553-555)gaG>gaA	p.E185E	VWA3B_ENST00000435344.1_Silent_p.E185E|VWA3B_ENST00000451075.2_Silent_p.E35E	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	185										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCTCAAGAGCCTGTGAAGT	0.527000													21	41					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657488	138657488	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138657488C>T	ENST00000298480.5	+	13	1293	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	KCNT1_ENST00000371757.2_Silent_p.L407L|KCNT1_ENST00000263604.3_Silent_p.L388L|KCNT1_ENST00000486577.2_Silent_p.L368L|KCNT1_ENST00000488444.2_Silent_p.L388L|KCNT1_ENST00000487664.1_Silent_p.L362L|KCNT1_ENST00000490355.2_Silent_p.L388L|KCNT1_ENST00000491806.2_Silent_p.L374L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	407						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTGGTCATCCTGTGCCCCAC	0.647000													13	26					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57085349	57085349	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:57085349C>T	ENST00000261556.6	+	10	1216	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.A365V	NM_017799.3	NP_060269.3			transmembrane protein 260																		GCAGTAGTGGCCGTCCTCGCT	0.493000													25	64					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832600	150832600	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:150832600T>A	ENST00000370357.4	+	11	1096	c.851T>A	c.(850-852)tTg>tAg	p.L284*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	284						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTATCCTTGCAAGACTTT	0.483000													8	45					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096402	147096402	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:147096402C>T	ENST00000234739.3	+	10	4663	c.3923C>T	c.(3922-3924)cCa>cTa	p.P1308L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1308	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTACAGCTCCATCCATGCCA	0.567000			T	"""IGH@, IGL@"""	B-ALL								8	112					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401714	10401714	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10401714C>T	ENST00000397077.1	-	12	2193	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	ATP2B2_ENST00000352432.4_Missense_Mutation_p.E585K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E571K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E540K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E585K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	585					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGCACGGGCTCGTAGTCCTGC	0.617000													36	102					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535292	96535292	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96535292C>T	ENST00000371321.3	+	3	559	c.477C>T	c.(475-477)acC>acT	p.T159T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	159					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)	TGAGAAAAACCAAGGGTGGGT	0.498000													65	116					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053356	17053356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:17053356G>A	ENST00000418129.2	+	2	2605	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	PLCL2_ENST00000432376.1_Missense_Mutation_p.E714K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E714K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	840	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CATTGGGGATGAATTCATCGG	0.483000													57	132					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15207273	15207273	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:15207273G>A	ENST00000395930.1	-	9	1639	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.R485W	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	485					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCGACCAGCCGGAGGGTGTTG	0.537000													8	96					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075309	9075309	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9075309C>T	ENST00000397910.4	-	3	12340	c.12137G>A	c.(12136-12138)gGg>gAg	p.G4046E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4048	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCTAGGCCCCTTGGTGAT	0.502000													47	134					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239072	48239072	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48239072C>T	ENST00000309562.2	+	1	729	c.711C>T	c.(709-711)acC>acT	p.T237T		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	237			T -> N (in dbSNP:rs12292056).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCTCTCCACCTGTGCTTCTC	0.468000													32	59					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38652319	38652319	+	Missense_Mutation	SNP	G	G	A	rs143645356		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38652319G>A	ENST00000254051.6	-	2	517	c.359C>T	c.(358-360)cCc>cTc	p.P120L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	120					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGTCCCTGGGGGAAGCAGCTG	0.572000													62	134					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38946806	38946806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38946806G>A	ENST00000302328.3	-	11	1678	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	SCN11A_ENST00000444237.2_Missense_Mutation_p.L494F|SCN11A_ENST00000456224.3_Missense_Mutation_p.L494F|SCN11A_ENST00000450244.1_Missense_Mutation_p.L494F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	494					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)	TGCTCTAGGAGCTGTGGCTGT	0.473000													39	98					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71050186	71050186	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:71050186C>T	ENST00000318789.4	-	13	1524	c.999G>A	c.(997-999)ctG>ctA	p.L333L	FOXP1_ENST00000491238.1_Silent_p.L335L|FOXP1_ENST00000468577.1_Silent_p.L333L|FOXP1_ENST00000493089.1_Silent_p.L333L|FOXP1_ENST00000484350.1_Silent_p.L257L|FOXP1_ENST00000475937.1_Silent_p.L333L|FOXP1_ENST00000498215.1_Silent_p.L333L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	333					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTCTATCGTCCAGCGCATGCT	0.353000			T	PAX5	ALL								5	58					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198276	20198276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20198276G>A	ENST00000400331.5	-	5	2016	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	MACC1_ENST00000332878.4_Missense_Mutation_p.L570F|MACC1_ENST00000589011.1_Missense_Mutation_p.L570F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	570	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAATATTCAAGGAAGTAATCA	0.393000													59	141					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167730	28167730	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:28167730G>A	ENST00000304658.5	-	7	1262	c.762C>T	c.(760-762)gcC>gcT	p.A254A	XPO6_ENST00000565698.1_Silent_p.A240A	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	254					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAAGAGATGGGCCAGGCACT	0.517000													34	93					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385718	33385718	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33385718G>A	ENST00000541274.1	-	5	726	c.277C>T	c.(277-279)Cat>Tat	p.H93Y	AQP7_ENST00000537089.1_Silent_p.A132A|AQP7_ENST00000377425.4_Silent_p.A167A|AQP7_ENST00000539936.1_Silent_p.A224A			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACGGGTTGATGGCATATCCTG	0.592000													62	141					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681847	100681847	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100681847G>A	ENST00000306151.4	+	3	7214	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2384	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)					AACTGCTGACGATACTAGCAT	0.498000													160	627					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965736	123965736	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:123965736G>A	ENST00000314393.4	+	3	2821	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	662						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCAGTTAGCGGCCAAGACTG	0.532000													19	112					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66361121	66361121	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66361121C>T	ENST00000533244.1	+	2	489	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CCS_ENST00000310190.4_5'UTR	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	16	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGTTGGAGTTCGCGGTGCAGA	0.567000													8	48					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30918574	30918574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:30918574C>T	ENST00000375318.2	-	1	117	c.61G>A	c.(61-63)Gac>Aac	p.D21N		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TCAGTTGAGTCTGCGGAAGAA	0.522000													5	89					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691903	116691903	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:116691903C>T	ENST00000357780.3	-	3	985	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCCAGCTCTGCCAGTGAC	0.662000													8	66					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694534	33694534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33694534G>A	ENST00000451316.1	-	5	1098	c.563C>T	c.(562-564)tCc>tTc	p.S188F	IP6K3_ENST00000293756.4_Missense_Mutation_p.S188F	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	188					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TGGGTACTCGGAGCACAGGCG	0.617000													26	121					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167319988	167319988	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167319988C>T	ENST00000308378.3	-	3	484	c.179G>A	c.(178-180)gGc>gAc	p.G60D	WDR49_ENST00000479765.1_Missense_Mutation_p.G401D|WDR49_ENST00000453925.2_Missense_Mutation_p.G113D	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	60										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGCTGAGTGGCCCCAAAGGAC	0.373000													46	50					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713532	70713532	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70713532C>T	ENST00000530196.1	-	0	986					NR_003951.1																						TGATTTGTTTCCGTTGAGAGA	0.353000													34	67					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206830	58206830	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58206830G>A	ENST00000302572.2	-	1	816	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	265					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)				CTGTGCCCATGAAATGGCTGG	0.453000													22	50					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018649	58018649	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:58018649C>T	ENST00000379218.2	+	11	1646	c.1334_splice	c.e11-1	p.S445_splice	SLC26A10_ENST00000320442.4_Splice_Site_p.L410_splice|SLC26A10_ENST00000490243.1_3'UTR			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GACCTCTTAGCTCCTCCAGGT	0.582000													64	133					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138424325	138424325	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138424325C>T	ENST00000310018.2	-	15	1814	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G511E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G511E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	511					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAAATACACTCCTGGTATGGC	0.418000													4	121					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345246	33345246	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33345246G>A	ENST00000374796.2	-	8	3875	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	NCOA6_ENST00000359003.2_Silent_p.F435F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	435	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCCCTGCTGGAAGGAGGAGG	0.582000													33	62					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89093993	89093993	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:89093993C>T	ENST00000554922.1	-	34	4776	c.4528G>A	c.(4528-4530)Gaa>Aaa	p.E1510K	EML5_ENST00000352093.5_Missense_Mutation_p.E1464K|EML5_ENST00000380664.5_Missense_Mutation_p.E1502K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1502						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCTACCTTCCTGCCATCTC	0.363000													5	45					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545664	82545664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82545664G>A	ENST00000423517.2	-	7	11975	c.11638C>T	c.(11638-11640)Cct>Tct	p.P3880S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3880S|PCLO_ENST00000437081.1_Missense_Mutation_p.P600S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3811	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTCGGAGGAACTAGTTGA	0.458000													167	515					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75668164	75668164	+	Silent	SNP	G	G	A	rs146955132		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:75668164G>A	ENST00000319410.5	-	8	1027	c.906C>T	c.(904-906)atC>atT	p.I302I	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.I274I	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	274					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTCCCCCTGGGATGATGTTCA	0.448000													44	31					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918101	26918101	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:26918101A>G	ENST00000539517.2	-	5	905	c.588T>C	c.(586-588)gcT>gcC	p.A196A	NOVA1_ENST00000267422.7_Silent_p.A74A|NOVA1_ENST00000465357.2_Silent_p.A172A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	199	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCTCCATTACAGCCTTCACAG	0.438000													72	122					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562359	145562359	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:145562359G>A	ENST00000355594.4	+	10	2134	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	683										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTGGCCATGGAGAAGGAGGC	0.647000													36	103					0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47351613	47351613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:47351613G>A	ENST00000378720.3	-	9	928	c.746C>T	c.(745-747)cCc>cTc	p.P249L	ESD_ENST00000378697.1_Missense_Mutation_p.P220L	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	249						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AAAAACAACGGGGATTTTCTT	0.348000													6	136					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129854420	129854420	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:129854420G>A	ENST00000254667.3	+	7	733	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	PTPRE_ENST00000471218.1_Silent_p.*150*|PTPRE_ENST00000419012.2_Missense_Mutation_p.E152K|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Missense_Mutation_p.E94K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	152	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGGAACTTTTGAACTGGCAAA	0.363000													7	162					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41842799	41842799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41842799G>A	ENST00000196371.5	-	6	809	c.649C>T	c.(649-651)Cga>Tga	p.R217*	OXCT1_ENST00000509987.1_Nonsense_Mutation_p.R31*	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	217					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTTCCTGCTCGGTCCGCCTTC	0.418000													14	330					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74790102	74790102	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:74790102G>A	ENST00000412021.2	-	11	1508	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	P4HA1_ENST00000373008.2_Missense_Mutation_p.P392L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P392L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P392L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P392L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P392L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	392						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGACACCACAGGATTTTCATA	0.343000													26	46					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651245	121651245	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121651245C>T	ENST00000393386.2	+	12	2556	c.2145C>T	c.(2143-2145)acC>acT	p.T715T	PTPRZ1_ENST00000449182.1_Silent_p.T715T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	715					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTATTCTACCTTTGCCTACT	0.478000													28	116					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451767	83451767	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:83451767C>T	ENST00000334574.8	-	4	927	c.746G>A	c.(745-747)gGa>gAa	p.G249E	FSD2_ENST00000541889.1_Missense_Mutation_p.G249E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	249										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTCTTGTTTTCCAAAATTCTC	0.333000													47	105					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27703969	27703969	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27703969G>A	ENST00000260570.3	-	8	832	c.729C>T	c.(727-729)ttC>ttT	p.F243F	IFT172_ENST00000416524.2_Silent_p.F222F|IFT172_ENST00000359466.6_Silent_p.F243F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	243					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCTGTGGTGAACTCCCGCT	0.493000													28	50					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7980483	7980483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7980483G>A	ENST00000319144.4	-	9	1360	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	367	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGAAGATGGGGCAATCTGG	0.602000										Multiple Myeloma(8;0.094)			12	35					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710688	117710688	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117710688G>A	ENST00000368508.3	-	12	1782	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ROS1_ENST00000368507.3_Silent_p.F537F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	528					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCCACGATGAATTCATTAA	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	66					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126160731	126160731	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126160731G>A	ENST00000389709.3	-	8	2324	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	757					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCTTGCATGGAAATGGGGAG	0.527000													40	68					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595340	152595340	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152595340G>A	ENST00000335674.1	-	1	239	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	80					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCCACAGCTGGAGCTCC	0.557000													102	95					0	0	1	0	0
PDX1	3651	broad.mit.edu	37	13	28498679	28498679	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28498679C>T	ENST00000381033.4	+	2	812	c.693C>T	c.(691-693)tcC>tcT	p.S231S		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	231					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CCGTGACCTCCGGCGAGGAGC	0.756000													7	16					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736339	24736339	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:24736339G>A	ENST00000483544.1	-	0	763					NR_029451.2																						CACCCTTTGCGAGGGGCACGT	0.562000													14	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993448	8993448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8993448C>T	ENST00000397910.4	-	66	41844	c.41641G>A	c.(41641-41643)Gag>Aag	p.E13881K	MUC16_ENST00000380951.5_Missense_Mutation_p.E522K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13884	SEA 12.			Missing (in Ref. 3; AAK74120).	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						TGGCTCAGCTCCAAATACAGC	0.602000													5	192					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108698393	108698393	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108698393C>T	ENST00000232603.5	-	24	2528	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	MORC1_ENST00000483760.1_Missense_Mutation_p.E795K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	816					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						CTCACTGTTTCCTTGACAGGT	0.398000													42	95					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24981428	24981428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24981428C>T	ENST00000323848.9	+	9	1438	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P370S|SRRM1_ENST00000537199.1_Missense_Mutation_p.256_256insL|SRRM1_ENST00000447431.2_Missense_Mutation_p.P375S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	375	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAAGAAGCCTCCCAAGAGGAC	0.527000													53	102					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149523829	149523829	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149523829C>T	ENST00000378016.2	+	0	14642							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATTCTCTGCCCTGGGGCCTC	0.687000													5	75					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6928492	6928492	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6928492C>T	ENST00000293805.5	+	5	954	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	288						nucleus	zinc ion binding			skin(1)	1						CTCTGGATCACCCTCTGAACG	0.562000													57	162					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235897	106235897	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106235897C>T	ENST00000390551.2	-	0	810																											CGGGGCTGTCCTGTAGGGACA	0.632000													6	247					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899715	4899715	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4899715G>A	ENST00000404991.1	-	1	1910	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	575					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGTTGCAAGGAAAATTCAGT	0.463000													51	60					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249360	123249360	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123249360C>T	ENST00000264501.4	+	66	11470	c.11097C>T	c.(11095-11097)ccC>ccT	p.P3699P	KIAA1109_ENST00000388738.3_Silent_p.P3699P			Q2LD37	K1109_HUMAN	KIAA1109	3699					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAGTTCTCCCAAAACTCCAG	0.458000													7	122					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973144	46973144	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46973144G>A	ENST00000264318.3	-	7	1812	c.830C>T	c.(829-831)tCa>tTa	p.S277L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	277					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATCCAAAATGAAACTTGAGA	0.343000													17	32					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163085	72163085	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:72163085C>G	ENST00000537465.1	-	13	2003	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q465H|PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q610H			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	615										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTGTGGCCTCCTGAAGATCTT	0.443000													165	154					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228444418	228444418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228444418G>A	ENST00000570156.2	+	16	4726	c.4652G>A	c.(4651-4653)aGc>aAc	p.S1551N	OBSCN_ENST00000284548.11_Missense_Mutation_p.S1459N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1459N|OBSCN_ENST00000359599.6_Missense_Mutation_p.S23N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGGGGCCAGCACCACACTC	0.627000													24	56					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505286	228505286	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228505286G>A	ENST00000570156.2	+	63	16628	c.16554G>A	c.(16552-16554)gtG>gtA	p.V5518V	OBSCN_ENST00000284548.11_Silent_p.V4561V|OBSCN_ENST00000366707.4_Silent_p.V2195V|OBSCN_ENST00000422127.1_Silent_p.V4561V|OBSCN_ENST00000366709.4_Silent_p.V1680V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4561					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGTGGAGGTGAAGGAGGGGG	0.667000													15	23					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31389227	31389227	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:31389227C>T	ENST00000328111.2	+	19	2461	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	DNMT3B_ENST00000456297.2_Silent_p.L618L|DNMT3B_ENST00000201963.3_Silent_p.L706L|DNMT3B_ENST00000443239.3_Silent_p.L652L|DNMT3B_ENST00000348286.2_Silent_p.L694L|DNMT3B_ENST00000353855.2_Silent_p.L694L|DNMT3B_ENST00000344505.4_Silent_p.L694L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	714					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCACGGTTCCTGGAGGTGAG	0.547000													21	42					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626664	43626664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:43626664G>A	ENST00000332857.6	-	4	2051	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGATTTTGTGGGGTCTCACCC	0.542000													14	223					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672567	108672567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108672567G>A	ENST00000261047.3	-	1	175	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GUCA1C_ENST00000471108.1_Missense_Mutation_p.P15S|GUCA1C_ENST00000393963.3_Missense_Mutation_p.P15S	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	15	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCTTGTGTAGGAACTGCTTTC	0.423000													47	87					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262140	45262140	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:45262140C>T	ENST00000303230.4	-	8	2613	c.2556G>A	c.(2554-2556)ccG>ccA	p.P852P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	852						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P852P(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCCTCGGTTCGGGGGGATGG	0.632000													33	123					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243470	10243470	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10243470G>A	ENST00000418404.3	-	17	2216	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	MYH13_ENST00000252172.4_Missense_Mutation_p.P685S|MYH13_ENST00000570743.1_Missense_Mutation_p.P685S|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	685	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACTCACCAGGAGTCTTGGTC	0.433000													9	11					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427583	119427583	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:119427583C>T	ENST00000369429.3	-	8	1590	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	TBX15_ENST00000207157.3_Silent_p.R421R			Q96SF7	TBX15_HUMAN	T-box 15	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGCAGCTAGCCTAGGGGAAG	0.537000													17	49					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945656	7945656	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7945656G>A	ENST00000229307.4	+	2	481	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	NANOG_ENST00000526286.1_Missense_Mutation_p.E88K	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	88					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CGCAAAAAAGGAAGACAAGGT	0.473000													55	74					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46165713	46165713	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46165713G>A	ENST00000396478.3	-	9	1782	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N	IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	560						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTGAATGAGGGTTATAAACTT	0.438000													7	200					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204937468	204937468	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:204937468G>A	ENST00000367172.4	+	9	1126	c.798G>A	c.(796-798)ctG>ctA	p.L266L	NFASC_ENST00000338586.6_Silent_p.L266L|NFASC_ENST00000539706.1_Silent_p.L277L|NFASC_ENST00000401399.1_Silent_p.L266L|NFASC_ENST00000339876.6_Silent_p.L266L|NFASC_ENST00000403080.1_Silent_p.L266L|NFASC_ENST00000513543.1_Silent_p.L277L|NFASC_ENST00000360049.4_Silent_p.L277L|NFASC_ENST00000404076.1_Silent_p.L260L|NFASC_ENST00000367170.4_Silent_p.L266L|NFASC_ENST00000404907.1_Silent_p.L277L|NFASC_ENST00000367169.4_Silent_p.L266L|NFASC_ENST00000367171.4_Silent_p.L266L|NFASC_ENST00000338515.6_Silent_p.L266L			O94856	NFASC_HUMAN	neurofascin	266	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTCCTGCTGGAATGCATCG	0.577000													43	100					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943362	17943362	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17943362G>A	ENST00000458235.1	-	19	2745	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	JAK3_ENST00000534444.1_Silent_p.F882F|JAK3_ENST00000527670.1_Silent_p.F882F	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	882	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACTTGACAATGAAATCACTGT	0.552000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								12	194					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40439863	40439863	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40439863C>T	ENST00000319592.4	-	4	1757	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.D350N|RBM47_ENST00000514014.1_Missense_Mutation_p.D312N|RBM47_ENST00000295971.7_Missense_Mutation_p.D350N|RBM47_ENST00000381793.2_Missense_Mutation_p.D350N			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	350						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGTAGGGGTCGCAGGAGTAC	0.632000													43	65					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74054413	74054413	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74054413G>A	ENST00000298198.4	-	10	1578	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	423					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)					CCATTTTCCAGGAGGTCTATT	0.323000													27	77					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77273189	77273189	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77273189A>G	ENST00000251089.2	-	5	1062	c.950T>C	c.(949-951)tTt>tCt	p.F317S		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	317										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GAAACAGGTAAAGCCTGCAAG	0.537000													61	194					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855877	144855877	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:144855877C>T	ENST00000369359.4	-	44	7122	c.7084G>A	c.(7084-7086)Ggc>Agc	p.G2362S	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G2120S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G2226S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G2311S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G2226S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2226					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTTGCTGCCTAGCACCTGG	0.562000			T	PDGFRB	MPD								57	95					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136547361	136547361	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:136547361C>T	ENST00000264162.2	-	16	5353	c.5343G>A	c.(5341-5343)caG>caA	p.Q1781Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1781	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACCTTGTCCTGCACAGCTG	0.507000													38	59					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119146716	119146716	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:119146716C>T	ENST00000264033.4	+	6	1255	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	293	Cbl-PTB.|SH2-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Y291_F336del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTTATATCTTCCGGCTGAGCT	0.428000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				47	45					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126753351	126753351	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:126753351G>A	ENST00000274473.6	+	11	1419	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	MEGF10_ENST00000508365.1_Silent_p.E384E|MEGF10_ENST00000503335.2_Silent_p.E384E|MEGF10_ENST00000418761.2_Silent_p.E384E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	384	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTCTGGAGAGTGTGCCTGCA	0.498000													54	137					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805500	125805500	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:125805500C>T	ENST00000346248.5	-	2	871	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	CHST15_ENST00000435907.1_Missense_Mutation_p.G77R|CHST15_ENST00000421115.1_Missense_Mutation_p.G77R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	77					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CATCGCTTCCCCTTTTTGAAG	0.473000													33	61					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792824	9792824	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:9792824G>A	ENST00000262441.5	+	13	1977	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	GLP2R_ENST00000574745.1_Silent_p.E308E	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	488					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ATGGCGCTGAGAAGCTTCGGA	0.607000													42	84					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241272	126241272	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126241272G>A	ENST00000394329.3	+	1	3719	c.3706G>A	c.(3706-3708)Gat>Aat	p.D1236N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1236	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTGCCTCAGATGTTGATGA	0.338000													7	66					0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888304	37888304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37888304G>A	ENST00000377716.2	-	3	987	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	SLC25A51_ENST00000242275.6_Missense_Mutation_p.R82C|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R82C			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	82					transport	integral to membrane|mitochondrial inner membrane		p.R82C(1)									AGGATTCCACGATACAAATTT	0.448000													7	164					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127555725	127555725	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:127555725G>A	ENST00000284690.3	-	2	800	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	DHX32_ENST00000284688.6_Missense_Mutation_p.L104F	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	104	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGATGGAAAGACAATATTCA	0.498000													6	29					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47959822	47959822	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:47959822G>A	ENST00000318711.7	+	17	2140	c.1957G>A	c.(1957-1959)Gtc>Atc	p.V653I	DIP2A_ENST00000427143.2_Missense_Mutation_p.V588I|DIP2A_ENST00000400274.1_Missense_Mutation_p.V648I|DIP2A_ENST00000466639.1_Missense_Mutation_p.V609I|DIP2A_ENST00000435722.3_Missense_Mutation_p.V652I|DIP2A_ENST00000457905.3_Missense_Mutation_p.V652I|DIP2A_ENST00000417564.2_Missense_Mutation_p.V652I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	652					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTTCCTCAACGTCTTCCAGTC	0.587000													78	114					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551083	101551083	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:101551083C>T	ENST00000536262.2	-	15	2365	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	603					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGCTCTTGCCACTCTGATCT	0.363000													11	41					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817262	45817262	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:45817262G>A	ENST00000358525.4	-	4	688	c.573C>T	c.(571-573)tcC>tcT	p.S191S	SLC6A20_ENST00000456124.2_Silent_p.S191S|SLC6A20_ENST00000353278.4_Silent_p.S191S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	191					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCTTGCCAGTGGACTCGGTGC	0.667000													32	68					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566193	155566193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:155566193C>T	ENST00000295101.2	+	2	1258	c.781C>T	c.(781-783)Caa>Taa	p.Q261*	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	261					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGGGCAGATCAACTTTTTCT	0.483000													28	68					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867104	5867104	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:5867104G>A	ENST00000252675.5	-	5	1195	c.633C>T	c.(631-633)tcC>tcT	p.S211S	FUT5_ENST00000588525.1_Silent_p.S211S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	211					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCTTCCAGTTGGACACCGCCC	0.677000													28	69					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848381	117848381	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117848381C>T	ENST00000350763.4	-	3	2040	c.1629G>A	c.(1627-1629)gtG>gtA	p.V543V	TNC_ENST00000542877.1_Silent_p.V543V|TNC_ENST00000537320.1_Silent_p.V543V|TNC_ENST00000341037.4_Silent_p.V543V|TNC_ENST00000345230.3_Silent_p.V543V|TNC_ENST00000423613.2_Silent_p.V543V|TNC_ENST00000535648.1_Silent_p.V543V|TNC_ENST00000340094.3_Silent_p.V543V|TNC_ENST00000346706.3_Silent_p.V543V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	543	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGCCCATTCACACAGCGAC	0.592000													26	58					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357613	40357613	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40357613G>A	ENST00000221347.6	-	34	15707	c.15700C>T	c.(15700-15702)Ctc>Ttc	p.L5234F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5234	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)			AGGACACAGAGACCACGGGTG	0.632000													31	77					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33750011	33750011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:33750011C>T	ENST00000394562.1	-	4	560	c.37G>A	c.(37-39)Gag>Aag	p.E13K	SLFN12_ENST00000452764.3_Missense_Mutation_p.E13K|SLFN12_ENST00000304905.5_Missense_Mutation_p.E13K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	13							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACCAACTCGGCATAATTC	0.393000													65	188					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49166502	49166502	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49166502C>G	ENST00000418109.1	-	14	1846	c.1682G>C	c.(1681-1683)cGg>cCg	p.R561P	LAMB2_ENST00000305544.4_Missense_Mutation_p.R561P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	561	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGAAGGGCCGGAAGTAGCC	0.622000													52	95					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764221	82764221	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82764221C>T	ENST00000423517.2	-	3	2982	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R882Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(2)|p.R828L(1)		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						AGCGGTAGGTCGTGGGCCAGG	0.517000													161	373					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550647	8550647	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:8550647C>T	ENST00000348943.3	+	15	1450	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	HNRNPM_ENST00000325495.4_Silent_p.G445G	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	445	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACCGCATGGGCTCCGTGGAGC	0.706000													87	173					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785091	207785091	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207785091G>A	ENST00000367049.4	+	38	6365	c.6365G>A	c.(6364-6366)gGg>gAg	p.G2122E	CR1_ENST00000400960.2_Missense_Mutation_p.G1672E|CR1_ENST00000367052.1_Missense_Mutation_p.G1672E|CR1_ENST00000367053.1_Missense_Mutation_p.G1672E|CR1_ENST00000367051.1_Missense_Mutation_p.G1672E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1672					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCACCTGGGCAGGAAGTG	0.567000													116	112					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418879	39418879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39418879G>A	ENST00000216099.7	+	2	477	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.E24K|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.E24K	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	24					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGAAAACGAACCCATCCT	0.517000													54	106					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861052	77861052	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77861052G>A	ENST00000380835.2	-	6	1168	c.1002C>T	c.(1000-1002)acC>acT	p.T334T		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	334					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTATAGATGGGTAAGGTGGT	0.468000													43	61					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54614145	54614145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54614145C>T	ENST00000545554.1	+	13	4277	c.4277C>T	c.(4276-4278)tCa>tTa	p.S1426L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1426L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1424L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1426					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGCACTTTTCATGTCTGTCT	0.368000													7	5					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150318	70150318	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70150318G>A	ENST00000325555.9	+	0	580				RAB3IP_ENST00000550536.1_Missense_Mutation_p.D145N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D129N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D129N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.D145N|RAB3IP_ENST00000378815.6_Missense_Mutation_p.D129N	NM_022456.3	NP_071901.2	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGAGGCTTGCGATGGCAGTGA	0.398000													84	131					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621848	234621848	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234621848G>A	ENST00000373414.3	+	1	211	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GTACATCAAAGAAGAGAACTT	0.527000													5	118					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262729	144262729	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:144262729C>T	ENST00000360537.2	-	5	3137	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	PLAGL1_ENST00000437412.1_Silent_p.G356G|PLAGL1_ENST00000429150.1_Silent_p.G408G|PLAGL1_ENST00000416623.1_Silent_p.G408G|PLAGL1_ENST00000354765.2_Silent_p.G408G|PLAGL1_ENST00000392307.1_Silent_p.G356G|PLAGL1_ENST00000392309.1_Silent_p.G408G|PLAGL1_ENST00000367571.1_Silent_p.G408G|PLAGL1_ENST00000367572.1_Silent_p.G356G|PLAGL1_ENST00000444202.1_Silent_p.G408G			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	408					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GCAAAGATTCCCCAGGCCCCA	0.632000													17	34					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40568173	40568173	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:40568173G>A	ENST00000455577.2	+	10	2701	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N	PAK6_ENST00000453867.1_Missense_Mutation_p.D642N|PAK6_ENST00000560346.1_Missense_Mutation_p.D642N|PAK6_ENST00000441369.1_Missense_Mutation_p.D642N|PAK6_ENST00000542403.2_Missense_Mutation_p.D642N|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.D642N	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	642	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCTGGTGCGGGACCCCCAAGA	0.617000													67	154					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	19999992	19999992	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19999992C>T	ENST00000395529.3	+	2	80	c.28C>T	c.(28-30)Cca>Tca	p.P10S	SPECC1_ENST00000395527.4_Missense_Mutation_p.P10S|SPECC1_ENST00000261503.5_Missense_Mutation_p.P10S|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	10						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCCCTGGAACCCAGCCATCAG	0.562000													77	138					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48053197	48053197	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:48053197T>C	ENST00000316364.5	+	4	683	c.244T>C	c.(244-246)Tta>Cta	p.L82L	SEMA6D_ENST00000537942.1_Silent_p.L82L|SEMA6D_ENST00000354744.4_Silent_p.L82L|SEMA6D_ENST00000389428.3_Silent_p.L82L|SEMA6D_ENST00000558816.1_Silent_p.L82L|SEMA6D_ENST00000389433.2_Silent_p.L82L|SEMA6D_ENST00000355997.3_Silent_p.L82L|SEMA6D_ENST00000389425.3_Silent_p.L82L|SEMA6D_ENST00000389432.2_Silent_p.L82L|SEMA6D_ENST00000558014.1_Silent_p.L82L|SEMA6D_ENST00000358066.4_Silent_p.L82L|SEMA6D_ENST00000536845.2_Silent_p.L82L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	82	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACAGTAAACTTAAATGAAAT	0.328000													21	49					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268527	65268527	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:65268527C>T	ENST00000534336.1	+	0	3295					NR_002819.2																						AATTTGATAGCCAAATTGAGA	0.353000													7	129					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30893387	30893387	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30893387C>T	ENST00000321897.5	+	27	3484	c.2852C>T	c.(2851-2853)aCc>aTc	p.T951I	VARS2_ENST00000542001.1_Missense_Mutation_p.T811I|VARS2_ENST00000541562.1_Missense_Mutation_p.T981I|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.T951I			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	951					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCCTGGGCACCCTGGGCTAC	0.647000													18	49					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457936	45457936	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:45457936C>T	ENST00000548424.1	+	0	448																											GTACAGTTTTCACTCTGAGGA	0.428000													36	50					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197241	32197241	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:32197241G>A	ENST00000375250.5	-	3	784	c.543C>T	c.(541-543)ccC>ccT	p.P181P	ARHGAP12_ENST00000375245.4_Silent_p.P181P|ARHGAP12_ENST00000311380.4_Silent_p.P181P|ARHGAP12_ENST00000344936.2_Silent_p.P181P|ARHGAP12_ENST00000396144.4_Silent_p.P181P	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACTCTGGACCGGGAAAATGAC	0.428000													36	93					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189700914	189700914	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:189700914C>T	ENST00000319332.5	-	8	1442	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	LEPREL1_ENST00000427335.2_Silent_p.V234V	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	415					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCTACGTTCACTCCTGAAG	0.398000													53	131					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448148	155448148	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155448148C>T	ENST00000368346.3	-	3	5152	c.4513G>A	c.(4513-4515)Ggc>Agc	p.G1505S	ASH1L_ENST00000392403.3_Missense_Mutation_p.G1505S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1505					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CGGGAAGAGCCAGTGTCCATA	0.473000													29	120					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348207	348207	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:348207C>T	ENST00000604971.1	+	3	1172	c.59C>T	c.(58-60)tCc>tTc	p.S20F	DUSP22_ENST00000605035.1_Missense_Mutation_p.S20F|DUSP22_ENST00000419235.2_Missense_Mutation_p.S123F|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20F|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20F|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20F|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123F			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577000													46	248					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843526	137843526	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:137843526G>A	ENST00000236709.3	-	3	804	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	201					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ACAAAAAGGGGTGGTGGGGGA	0.488000													5	190					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380230	107380230	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107380230G>A	ENST00000259362.1	-	1	255	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	86					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						CTTTCTGAAAGGAAGCTCACT	0.512000													38	111					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205250	104205250	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:104205250G>A	ENST00000202556.9	-	13	2985	c.2703C>T	c.(2701-2703)ttC>ttT	p.F901F	PPP1R13B_ENST00000423488.2_Silent_p.F320F|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	901					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCACCAGATCGAACTCTCCTT	0.632000													69	188					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29553501	29553501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:29553501C>T	ENST00000358273.4	+	18	2433	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q684*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	684					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q684*(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)		CCGACAAGCCCAGACCAAACT	0.507000			"""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)			24	60					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67672666	67672666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:67672666G>A	ENST00000347310.5	+	6	897	c.726G>A	c.(724-726)tgG>tgA	p.W242*	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Nonsense_Mutation_p.W242*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	242	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TAATTTATTGGGATAGTCAAA	0.353000													15	52					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174589	150174589	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150174589G>A	ENST00000307271.3	+	5	2293	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	573						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TAGGGGCGGGGAATTTGGAAG	0.468000													55	209					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178489839	178489839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:178489839G>A	ENST00000367641.3	+	7	432	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TEX35_ENST00000367639.1_Missense_Mutation_p.E133K|TEX35_ENST00000258298.2_Missense_Mutation_p.E49K|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.E125K|TEX35_ENST00000367643.3_Missense_Mutation_p.E125K					testis expressed 35																		GGAGCAGCAGGAACTCAGGCT	0.552000													30	38					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36766626	36766626	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:36766626C>T	ENST00000361475.2	-	10	1677	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	TGM2_ENST00000536724.1_Missense_Mutation_p.E442K|TGM2_ENST00000536701.1_Missense_Mutation_p.E421K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	502					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGACGTACTCCTCAGCGGTG	0.597000													11	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784887	82784887	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82784887C>T	ENST00000423517.2	-	2	1407	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	PCLO_ENST00000333891.8_Missense_Mutation_p.G357E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	323	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTGTTGTCCCTGGTGGCTG	0.602000													17	60					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281283	158281283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:158281283G>A	ENST00000296526.7	+	13	2604	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	GRIA2_ENST00000393815.2_Missense_Mutation_p.G713E|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000264426.9_Missense_Mutation_p.G760E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G713E|GRIA2_ENST00000507898.1_Missense_Mutation_p.G713E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	760					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACCTAAAGGATCCTCATTA	0.423000													19	61					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275852	238275852	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:238275852G>A	ENST00000295550.4	-	11	5430	c.4978C>T	c.(4978-4980)Cgt>Tgt	p.R1660C	COL6A3_ENST00000472056.1_Missense_Mutation_p.R1053C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1454C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1460C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1459C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1454C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1660	Nonhelical region.|VWFA 9.				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)		GACACAAAACGAAGCACTTCC	0.443000													30	54					0	0	1	0	0
SFRP5	6425	broad.mit.edu	37	10	99527510	99527510	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:99527510C>T	ENST00000266066.3	-	3	833	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	239	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CGCTTGGTGTCCTTGCGCTTC	0.602000													55	94					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871506	871506	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:871506C>T	ENST00000314167.4	-	16	1863	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	GAK_ENST00000511163.1_Missense_Mutation_p.V506M	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	585	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AACAGCGGCACGGGTGTCATG	0.632000													38	62					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39760256	39760256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:39760256G>A	ENST00000381535.4	+	1	82	c.57G>A	c.(55-57)tgG>tgA	p.W19*	SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000406293.3_Intron|SYNGR1_ENST00000318801.4_Intron|SYNGR1_ENST00000328933.5_Intron	NM_145738.2	NP_663791.1			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TAGGCAGCTGGACACAGAGGT	0.592000													55	123					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85690055	85690055	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:85690055G>A	ENST00000253458.7	+	7	1272	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	GSE1_ENST00000393243.1_Missense_Mutation_p.E293K|GSE1_ENST00000405402.2_Missense_Mutation_p.E262K	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		gcgcgaacgcgagaaggagcg	0.697000													7	3					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76251538	76251538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76251538C>T	ENST00000274368.4	+	4	816	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	CRHBP_ENST00000506501.1_Missense_Mutation_p.P132S	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	132					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TCATCCTCTCCCCTCAGCTGA	0.463000													38	72					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37020785	37020785	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37020785C>T	ENST00000358127.4	-	2	134	c.60G>A	c.(58-60)gtG>gtA	p.V20V	PAX5_ENST00000414447.1_Silent_p.V20V|PAX5_ENST00000523241.1_Silent_p.V20V|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Silent_p.V20V|PAX5_ENST00000377847.2_Silent_p.V20V|PAX5_ENST00000520154.1_Silent_p.V20V|PAX5_ENST00000377852.2_Silent_p.V20V|PAX5_ENST00000377853.2_Silent_p.V20V|PAX5_ENST00000446742.1_Silent_p.V20V|PAX5_ENST00000522003.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	20	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAAGCTGATTCACTCCTCCAT	0.532000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								10	169					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45832545	45832545	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:45832545G>A	ENST00000263736.4	-	2	98	c.36C>T	c.(34-36)gtC>gtT	p.V12V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	12					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCACATCCTGGACCTGTACTT	0.348000													76	150					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86791060	86791060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:86791060G>T	ENST00000441037.2	+	6	642	c.547G>T	c.(547-549)Gag>Tag	p.E183*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E183*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	183					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTCCGGCAGGGAGGCCTTCCT	0.637000													33	57					2.87052e-16	2.89584e-16	1	1	0
GPR162	27239	broad.mit.edu	37	12	6936219	6936219	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:6936219C>T	ENST00000311268.3	+	5	2404	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	GPR162_ENST00000382315.3_Silent_p.S235S|GPR162_ENST00000428545.2_Silent_p.S255S	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	539						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCCGACTCTCCCTTGGGTCCC	0.647000													83	194					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049659	109049659	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:109049659C>T	ENST00000335658.6	-	5	445	c.390_splice	c.e5-1	p.D131_splice	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	131						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTAGGAAAATCCTACAAAAAG	0.348000													36	70					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87765335	87765335	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87765335G>A	ENST00000398204.4	+	14	1532	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	ADAM22_ENST00000265727.7_Missense_Mutation_p.M403I|ADAM22_ENST00000315984.7_Missense_Mutation_p.M403I|ADAM22_ENST00000398201.4_Missense_Mutation_p.M403I|ADAM22_ENST00000398209.3_Missense_Mutation_p.M403I	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	403	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGCATAATGGGAGACACTG	0.398000													30	115					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517442	195517442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195517442G>A	ENST00000463781.3	-	2	1468	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q337*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458000													78	161					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220676	108220676	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108220676G>A	ENST00000273353.3	-	4	338	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	94	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCATCTGCTGGATTTTGTCCT	0.433000													56	153					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004539	248004539	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248004539G>A	ENST00000355784.2	-	1	715	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGACACAATGAAAACATAGG	0.488000													74	76					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191381	23191381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:23191381G>A	ENST00000400191.3	+	5	997	c.979G>A	c.(979-981)Gcg>Acg	p.A327T	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Missense_Mutation_p.A327T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A327T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A321T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A327T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	327	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATCCCCTCCGCGCCCCAGGC	0.647000													36	68					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989852	70989852	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70989852G>A	ENST00000256389.3	-	2	2017	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	541	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CACAGTGACCGAAACGGTTTC	0.418000													28	82					0	0	1	0	0
IAPP	3375	broad.mit.edu	37	12	21531321	21531321	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21531321G>A	ENST00000240652.3	+	3	367	c.231G>A	c.(229-231)gaG>gaA	p.E77E	SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Silent_p.E77E|SLCO1A2_ENST00000537524.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	77					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	ATGCAGTAGAGGTTTTAAAGA	0.378000													10	121					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3845984	3845984	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:3845984G>A	ENST00000309890.7	-	12	1611	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	ATP2A3_ENST00000359983.3_Silent_p.F487F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.F487F|ATP2A3_ENST00000397035.3_Silent_p.F487F|ATP2A3_ENST00000352011.3_Silent_p.F487F|ATP2A3_ENST00000397043.3_Silent_p.F487F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	487					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCTCGGGAGAACTCCAGGG	0.622000													50	83					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749641	80749641	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80749641G>A	ENST00000458043.2	+	46	5698	c.5692G>A	c.(5692-5694)Gaa>Aaa	p.E1898K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1886K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGACTGTGATGAAGAGCCCAC	0.453000													67	174					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923787	166923787	+	Silent	SNP	G	G	A	rs150080589	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:166923787G>A	ENST00000510118.1	-	6	772	c.432C>T	c.(430-432)ccC>ccT	p.P144P	RPS6KA2_ENST00000503859.1_Silent_p.P127P|RPS6KA2_ENST00000405189.3_Silent_p.P30P|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.P119P|RPS6KA2_ENST00000481261.2_Silent_p.P30P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	119	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCACAATGAAGGGGTGATTCA	0.403000													28	61					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118421	120118421	+	Silent	SNP	G	G	A	rs148434952	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:120118421G>A	ENST00000332843.2	+	6	866	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	275						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCATCAAGAAGAAAAAGTAAC	0.408000													51	95					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:19378093G>A	ENST00000550708.1	+	1	572	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000													26	348					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1539182	1539182	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:1539182G>A	ENST00000389470.4	-	7	1154	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	INTS1_ENST00000404767.3_Silent_p.F257F|INTS1_ENST00000493531.1_5'UTR			Q8N201	INT1_HUMAN	integrator complex subunit 1	257					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTCTGGTGTTGAAGGCCGTCT	0.652000													14	22					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54048536	54048536	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:54048536G>A	ENST00000373980.4	+	15	2177	c.1760G>A	c.(1759-1761)aGg>aAg	p.R587K	PRKG1_ENST00000373985.1_Missense_Mutation_p.R560K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R290K|PRKG1_ENST00000401604.2_Missense_Mutation_p.R572K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	572	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATCATATTGAGGGGGATTGAC	0.343000													31	90					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77769931	77769931	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:77769931A>C	ENST00000381714.3	+	8	1078	c.650A>C	c.(649-651)gAc>gCc	p.D217A	HMG20A_ENST00000336216.4_Missense_Mutation_p.D217A	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	217					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCTGTTTTTGACATCCCTATA	0.333000													22	40					0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173429367	173429367	+	Nonsense_Mutation	SNP	C	C	T	rs139326921		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:173429367C>T	ENST00000410055.1	+	4	647	c.547C>T	c.(547-549)Cga>Tga	p.R183*	PDK1_ENST00000392571.2_Nonsense_Mutation_p.R203*|PDK1_ENST00000282077.2_Nonsense_Mutation_p.R183*|PDK1_ENST00000544863.1_Nonsense_Mutation_p.R28*|PDK1_ENST00000543905.1_Nonsense_Mutation_p.R107*	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	183	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CTTTTTGGATCGATTCTACAT	0.433000									Autosomal Dominant Polycystic Kidney Disease				7	94					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193752	7193752	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7193752G>A	ENST00000007699.5	-	5	625	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	188	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCAACTGAGGGAGGCCGGGGG	0.657000													58	88					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49570028	49570028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49570028C>T	ENST00000545947.1	+	6	2806	c.2084C>T	c.(2083-2085)gCc>gTc	p.A695V	DAG1_ENST00000308775.2_Missense_Mutation_p.A695V|DAG1_ENST00000539901.1_Missense_Mutation_p.A695V|DAG1_ENST00000538711.1_Missense_Mutation_p.A695V|DAG1_ENST00000541308.1_Missense_Mutation_p.A695V|DAG1_ENST00000515359.2_Missense_Mutation_p.A695V	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	695	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTCTCCAACGCCCTAGAGCCT	0.602000													22	45					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659335	121659335	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121659335G>A	ENST00000489711.1	+	21	2401	c.2013_splice	c.e21+1	p.Q671_splice	SLC15A2_ENST00000295605.2_Splice_Site_p.Q640_splice	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	671					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCTGGTACAGGTATGGATCT	0.483000													21	47					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532000													61	123					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933290	148933290	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:148933290G>A	ENST00000539543.1	+	0	176					NR_027355.1																						GCTGCCCGCAGGATATTGTGG	0.557000													5	44					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47428987	47428987	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:47428987G>A	ENST00000285039.7	-	21	3087	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	MYO5B_ENST00000324581.6_Silent_p.L71L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	930					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCCGCTGCAGCTGGACCACC	0.597000													50	86					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49294424	49294424	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49294424G>A	ENST00000438782.1	+	8	1730	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	CCDC36_ENST00000296449.5_Silent_p.Q498Q|CCDC36_ENST00000452691.2_Silent_p.Q498Q			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	498										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCCGTGCTCAGCCTCTGCATC	0.532000													134	297					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374153	135374153	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135374153C>T	ENST00000343036.2	+	3	423	c.375C>T	c.(373-375)atC>atT	p.I125I	C9orf171_ENST00000393216.2_Silent_p.I89I|C9orf171_ENST00000393215.3_Silent_p.I89I	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	125										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTCTACATCCGAGGGCTTG	0.577000													9	20					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105377847	105377847	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:105377847G>A	ENST00000264122.4	-	19	3237	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	CBLB_ENST00000407712.1_Silent_p.F187F|CBLB_ENST00000394027.3_Silent_p.F950F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	972					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGAGGAGGGAAGGCAAATT	0.463000			Mis S		AML								37	103					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302179	123302179	+	Missense_Mutation	SNP	C	C	T	rs62000437	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123302179C>T	ENST00000296513.2	+	4	390	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.L69F|ADAD1_ENST00000388725.2_Missense_Mutation_p.L51F	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	69					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCCAAGAATCTTTCATCTAT	0.318000													31	39					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306782	54306782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:54306782C>T	ENST00000545554.1	+	1	1682	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S561L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S561L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	561					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTCTTACTCAGAAGATTTT	0.413000													12	45					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66109713	66109713	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:66109713C>T	ENST00000359957.3	-	2	154		c.e2-1		BRMS1_ENST00000425825.2_Splice_Site	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CATCTGGACTCTGGGAGAAGG	0.542000													36	102					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171250046	171250046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:171250046C>T	ENST00000354841.4	+	5	880	c.749C>T	c.(748-750)cCa>cTa	p.P250L	FMO1_ENST00000367750.3_Missense_Mutation_p.P250L|FMO1_ENST00000402921.2_Missense_Mutation_p.P187L|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	250					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCCCAACCCCAATTGTGACT	0.458000													31	84					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	53999048	53999048	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:53999048G>A	ENST00000295304.4	+	2	235	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	47										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAACAGCCTGGAAGAGTTGTG	0.264000													7	159					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110788932	110788932	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:110788932T>C	ENST00000327908.3	+	3	940	c.176T>C	c.(175-177)tTg>tCg	p.L59S	LRIT3_ENST00000379920.3_Missense_Mutation_p.L197S|LRIT3_ENST00000594814.1_Missense_Mutation_p.L242S|LRIT3_ENST00000409621.2_Missense_Mutation_p.L59S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	197						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACAGGAATTTTGTTTCAGCGG	0.468000													32	62					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240037004	240037004	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:240037004G>A	ENST00000345617.3	-	13	2312	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	HDAC4_ENST00000543185.1_Silent_p.I91I|HDAC4_ENST00000541256.1_Silent_p.I481I	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	507					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTTGGGGATGATCTGCAAGG	0.637000													10	115					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905886	164905886	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:164905886C>T	ENST00000475390.1	-	2	3176	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	SLITRK3_ENST00000241274.3_Silent_p.K911K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	911						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGTGCAGTTCCTTTAATTTGG	0.537000										HNSCC(40;0.11)			11	148					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832309	35832309	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35832309C>T	ENST00000085219.5	+	8	1637	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CD22_ENST00000419549.2_Missense_Mutation_p.S352L|CD22_ENST00000544992.2_Missense_Mutation_p.S524L|CD22_ENST00000270311.6_Missense_Mutation_p.S404L|CD22_ENST00000594250.1_Missense_Mutation_p.S347L|CD22_ENST00000536635.2_Missense_Mutation_p.S436L|CD22_ENST00000341773.6_Missense_Mutation_p.S347L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	524	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCTGGAAACTCGGTCAGCCTC	0.557000													33	70					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302226	123302226	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:123302226G>A	ENST00000296513.2	+	4	437	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Silent_p.K84K|ADAD1_ENST00000388725.2_Silent_p.K66K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	84					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATACCTAAGGAATTTATAA	0.368000													32	78					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16497018	16497018	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16497018G>A	ENST00000455140.2	-	20	2194	c.2128C>T	c.(2128-2130)Ccc>Tcc	p.P710S	EPS15L1_ENST00000535753.2_Missense_Mutation_p.P710S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P712S|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P710S	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	710	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATGAAAAGGGATCACTGGAT	0.473000													13	28					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97488680	97488680	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97488680G>A	ENST00000175506.4	-	6	1046	c.518C>T	c.(517-519)cCc>cTc	p.P173L	ASNS_ENST00000394309.3_Missense_Mutation_p.P173L|ASNS_ENST00000444334.1_Missense_Mutation_p.P152L|ASNS_ENST00000455086.1_Missense_Mutation_p.P90L|ASNS_ENST00000422745.1_Missense_Mutation_p.P152L|ASNS_ENST00000394308.3_Missense_Mutation_p.P173L|ASNS_ENST00000437628.1_Missense_Mutation_p.P90L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	173	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.P173L(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTTAAAAAGGGAGTCGCGGA	0.373000													57	126					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306905	129306905	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:129306905G>A	ENST00000281437.4	+	2	543	c.447G>A	c.(445-447)gaG>gaA	p.E149E	BARX2_ENST00000526127.1_Silent_p.E4E	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	149										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TGGGCCTGGAGAAGAAATTCC	0.602000													8	9					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111119388	111119388	+	Splice_Site	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:111119388T>C	ENST00000360467.5	+	27	2346	c.2038_splice	c.e27-1	p.G680_splice		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	680	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGTCCCCAGGTTGCATAGGAG	0.602000													6	100					0	0	1	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67951960	67951960	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:67951960C>A	ENST00000377477.2	+	9	1035	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GTGTCAGAGCCTTTACCTGGA	0.373000													5	172					1.12685e-05	1.13069e-05	1	1	0
PRSS36	146547	broad.mit.edu	37	16	31154937	31154937	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:31154937C>T	ENST00000268281.4	-	7	1000	c.942G>A	c.(940-942)agG>agA	p.R314R	PRSS36_ENST00000418068.2_Silent_p.R314R|PRSS36_ENST00000569305.1_Silent_p.R314R	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	314					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.R314R(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGTTCTCCTCCCTGGGCTCCT	0.622000													77	135					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90497927	90497927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90497927C>T	ENST00000325643.5	+	1	187	c.121C>T	c.(121-123)Cag>Tag	p.Q41*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CATTGCACTTCAGATGGAGAA	0.562000													18	27					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934907	28934907	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28934907G>A	ENST00000257192.4	+	15	2960	c.2748G>A	c.(2746-2748)gaG>gaA	p.E916E	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.E275E	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	916					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATCCTAGAGAGTCTTCAAATG	0.468000													8	268					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034239	46034239	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:46034239C>T	ENST00000372070.3	+	7	1382	c.635C>T	c.(634-636)cCt>cTt	p.P212L	AKR1A1_ENST00000351829.4_Missense_Mutation_p.P212L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	212					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GCTTATAGCCCTTTGGGCTCC	0.532000													31	75					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626427	55626427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55626427C>T	ENST00000373965.2	-	28	4107	c.3713G>A	c.(3712-3714)gGa>gAa	p.G1238E	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1160E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1238E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1209E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1231E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1194E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1231E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G842E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1231E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1231E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1231	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCGCTCAGTCCCTTCCCATA	0.408000										HNSCC(58;0.16)			5	96					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80975499	80975499	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:80975499C>G	ENST00000403729.2	-	7	1088	c.563G>C	c.(562-564)aGa>aCa	p.R188T	ANTXR2_ENST00000404191.1_Missense_Mutation_p.R111T|ANTXR2_ENST00000346652.6_Missense_Mutation_p.R188T|ANTXR2_ENST00000307333.7_Missense_Mutation_p.R188T|ANTXR2_ENST00000295465.4_Missense_Mutation_p.R188T	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	188	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ATCAGCAATTCTTTCAAGCTT	0.368000									Juvenile Hyaline Fibromatosis				5	75					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43572144	43572144	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43572144G>A	ENST00000452443.2	-	10	1361	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	453					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCTCCTCAGGGGATCCTGCA	0.567000													32	86					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76359013	76359013	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:76359013C>T	ENST00000312916.7	+	14	2463	c.2081C>T	c.(2080-2082)cCa>cTa	p.P694L		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	694					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAACTTCCCAGAAACTAAG	0.408000													8	168					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359601	52359601	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52359601C>T	ENST00000356297.4	-	12	1588	c.1488G>A	c.(1486-1488)gtG>gtA	p.V496V	PXDNL_ENST00000543296.1_Silent_p.V496V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	496	Ig-like C2-type 3.				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)				ACACCTTTTTCACCCCCAACG	0.453000													72	170					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411586	126411586	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126411586C>T	ENST00000394329.3	+	17	13622	c.13609C>T	c.(13609-13611)Ccc>Tcc	p.P4537S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCCAAAAATCCCAAAGAGGA	0.532000													32	73					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505188	47505188	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47505188G>A	ENST00000371901.3	+	8	1307	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.G352R	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	353						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCTGGGGGATGGGTCTTCTAT	0.512000													30	42					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299857	125299857	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:125299857C>T	ENST00000538699.1	-	2	131	c.51G>A	c.(49-51)gaG>gaA	p.E17E	DCAF12L2_ENST00000360028.2_Silent_p.E17E	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	17										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGGCTCCCGCCTCGACCGCGG	0.741000													22	7					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038970	75038970	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:75038970G>A	ENST00000326665.5	-	14	2642	c.2424C>T	c.(2422-2424)ccC>ccT	p.P808P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	808	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGCCCTCAAGGGAGCCTCAT	0.557000													42	114					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856889	140856889	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140856889C>T	ENST00000308177.3	+	1	1310	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTCTTCCCTCAAGAATT	0.552000													25	63					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30938550	30938550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:30938550G>A	ENST00000597505.1	-	24	3318	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.R186*|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCTTCATTCGAAGATGAGCT	0.413000													61	93					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26584718	26584718	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:26584718T>G	ENST00000436318.2	-	3	1003	c.870A>C	c.(868-870)aaA>aaC	p.K290N	MUC15_ENST00000455601.2_Missense_Mutation_p.K263N|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.K290N|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000281268.8_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	263						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCGTTTTCCTTTTTCCACACA	0.398000													6	171					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326224	79326224	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79326224G>T	ENST00000376718.3	-	8	1089	c.966C>A	c.(964-966)ccC>ccA	p.P322P	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	322					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACAGTCAAAGGGCTCCAGTT	0.498000													14	18					2.61681e-11	2.63403e-11	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21606969	21606969	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:21606969C>T	ENST00000392288.2	+	4	1617	c.1508C>T	c.(1507-1509)aCc>aTc	p.T503I	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T375I	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CAATCTTCAACCCTTAGTATA	0.323000													22	52					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459479	148459479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:148459479G>A	ENST00000542281.1	+	4	1103	c.657G>A	c.(655-657)tgG>tgA	p.W219*	AGTR1_ENST00000404754.2_Nonsense_Mutation_p.W219*|AGTR1_ENST00000474935.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000402260.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000461609.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000497524.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000418473.2_Nonsense_Mutation_p.W219*|AGTR1_ENST00000349243.3_Nonsense_Mutation_p.W219*|AGTR1_ENST00000475347.1_Nonsense_Mutation_p.W219*	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	219					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTCTTATTTGGAAGGCCCTAA	0.358000													28	57					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766925	60766925	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:60766925C>T	ENST00000303375.5	+	24	3779	c.3377C>T	c.(3376-3378)cCg>cTg	p.P1126L	MRC2_ENST00000580916.1_Intron|MRC2_ENST00000446119.2_Intron	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1126					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCCCCGCCCCGGGCACTGAG	0.687000													11	22					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433321	140433321	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140433321G>A	ENST00000306549.3	+	1	2343	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		756					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTCCATATGAAATGTGTTC	0.418000													33	90					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73512747	73512747	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73512747A>C	ENST00000394957.3	-	5	747	c.689T>G	c.(688-690)cTg>cGg	p.L230R	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	230						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CATCCGCACCAGCTCCTGGGC	0.577000													8	29					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307843	140307843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140307843G>A	ENST00000253807.2	+	1	1366	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E456K|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCGTTGCTGAAAACAATGG	0.517000													50	117					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220198503	220198503	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:220198503G>A	ENST00000366923.3	-	7	990	c.721C>T	c.(721-723)Cct>Tct	p.P241S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	241	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTTTTTCAGGATTTGTGTCA	0.363000													59	72					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455284	187455284	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:187455284G>A	ENST00000307161.5	-	2	813	c.612C>T	c.(610-612)atC>atT	p.I204I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	204					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|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)	GGTAACAGAAGATGACTATGA	0.527000													79	143					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127646	117127646	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117127646C>T	ENST00000310357.3	-	3	1243	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.E408K|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	408					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGTCCTGGCTCAGCATAGTCC	0.458000													25	77					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276430	153276430	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153276430G>A	ENST00000290722.1	-	4	484	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	144					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTCTGGATGGCATAGGAGA	0.527000													28	93					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25278676	25278676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25278676C>T	ENST00000264864.6	+	10	1502	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	PI4K2B_ENST00000512921.1_Missense_Mutation_p.P342L	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	438						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GGGAAGAGTCCTTTCCAGCTA	0.438000													37	69					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843008	123843008	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:123843008G>A	ENST00000369005.1	+	4	1333	c.993G>A	c.(991-993)gaG>gaA	p.E331E	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.E331E|TACC2_ENST00000334433.3_Silent_p.E331E|TACC2_ENST00000515273.1_Silent_p.E331E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.E331E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	331						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCCCAGGAGAGCTGCCAGC	0.607000													38	74					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49147777	49147777	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:49147777C>T	ENST00000084798.4	-	3	871	c.192G>A	c.(190-192)gtG>gtA	p.V64V	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	64						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GCCGCTTCCCCACAGCACACA	0.587000													22	29					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57734622	57734622	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:57734622G>A	ENST00000281282.5	+	4	1827	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	583						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGGTCTTTGAGAAAATCCAGA	0.418000													31	72					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101192947	101192947	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:101192947G>A	ENST00000264254.6	+	6	1087	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	237					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						CAGCGATTCCGAGGGTGACTG	0.458000													15	59					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47322179	47322179	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:47322179G>A	ENST00000295454.3	+	5	789	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	GABRB1_ENST00000538619.1_Missense_Mutation_p.R96Q	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	166					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGATCTTCGAAGATATCCA	0.418000													18	83					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080442	194080442	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:194080442C>T	ENST00000347624.3	-	2	1416	c.1331G>A	c.(1330-1332)aGg>aAg	p.R444K	LRRC15_ENST00000428839.1_Missense_Mutation_p.R450K|LRRC15_ENST00000439944.2_Missense_Mutation_p.R450K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	444	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		CGTCCCTAACCTAGGCTGGTT	0.552000													19	37					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72338046	72338046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72338046C>T	ENST00000389916.4	+	3	290	c.152C>T	c.(151-153)cCc>cTc	p.P51L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	51	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGAGGATCCCGACGACATC	0.652000													48	231					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079731	57079731	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:57079731G>A	ENST00000316981.3	-	5	1053	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	PLAG1_ENST00000429357.2_Missense_Mutation_p.R192C|PLAG1_ENST00000423799.2_Missense_Mutation_p.R110C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	192	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAGAACCGGCGATCACAATGT	0.493000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								28	42					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698321	33698321	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33698321G>A	ENST00000253193.7	+	7	2355	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	718					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GATGCACCTCGGGAGCCCTGC	0.697000													14	14					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870933	189870933	+	Splice_Site	SNP	G	G	A	rs121912916		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189870933G>A	ENST00000304636.3	+	42	3211	c.3039_splice	c.e42-1	p.G1014_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1014	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTAATCAGGGAAACCCTGGA	0.388000													26	50					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917721	51917721	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51917721C>T	ENST00000353836.5	-	8	1600	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G377E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G497E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G555E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G402E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G312E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G555E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G412E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G370E|CTD-2616J11.3_ENST00000532473.1_RNA	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	555					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GATGCCGATTCCCAGAAACGC	0.587000													18	37					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687638	27687638	+	Missense_Mutation	SNP	C	C	T	rs142594066	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:27687638C>T	ENST00000438700.3	-	4	2006	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	630					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGCCAGATTTCGAAGGTCTAA	0.358000													33	67					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124029895	124029895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:124029895C>T	ENST00000422452.2	-	2	476	c.413G>A	c.(412-414)aGc>aAc	p.S138N	TENM1_ENST00000371130.3_Missense_Mutation_p.S138N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTGGCCCGGCTGGACAAACA	0.438000													119	62					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710772	77710772	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77710772C>T	ENST00000298351.4	+	16	1566	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	474						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCTACTTCTCCGCCTTCCTCG	0.622000													59	127					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31205467	31205467	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:31205467C>T	ENST00000255304.4	+	4	1066	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	242					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGACTGTATCCTGTCAGCTTT	0.433000													5	130					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084464	17084464	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:17084464G>A	ENST00000455405.2	-	0	425																											GACAAGCTGGGAGCCTGAGGG	0.597000													18	128					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011810	37011810	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:37011810C>T	ENST00000418263.1	+	3	689	c.339C>T	c.(337-339)ttC>ttT	p.F113F	CCNA1_ENST00000440264.1_Silent_p.F70F|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Silent_p.F70F|CCNA1_ENST00000255465.4_Silent_p.F114F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	114					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAAATGCCTTCCCTCCAGCTG	0.483000													59	110					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103514	15103514	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:15103514G>A	ENST00000228945.4	-	2	277	c.133C>T	c.(133-135)Cta>Tta	p.L45L	ARHGDIB_ENST00000541546.1_Silent_p.L45L|ARHGDIB_ENST00000541644.1_Silent_p.L45L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	45					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TACTTAATTAGACTCTCATCA	0.483000													40	145					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949301	89949301	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:89949301C>T	ENST00000405460.2	+	20	4006	c.3910C>T	c.(3910-3912)Ctg>Ttg	p.L1304L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1304					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		AGATTTTTTACTGGTTGGAAT	0.488000													15	46					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906782	164906782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:164906782C>T	ENST00000475390.1	-	2	2280	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E613K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	613	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCAGCATCTCTGGGCAAAGA	0.542000										HNSCC(40;0.11)			16	36					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41137755	41137755	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:41137755G>A	ENST00000380588.4	+	3	497	c.394G>A	c.(394-396)Gga>Aga	p.G132R	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	132	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCGCCTGCATGGATCTGCTTA	0.532000													9	25					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947213	40947213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40947213C>T	ENST00000246914.5	+	14	2795	c.2774C>T	c.(2773-2775)tCt>tTt	p.S925F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	925					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCTCTCCTTTCTCTGGCTAGT	0.587000													84	143					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028731	102028731	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:102028731C>T	ENST00000510508.4	+	1	1044	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	DIO3_ENST00000359323.3_Missense_Mutation_p.R274W			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	274					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCACGGCGCTCGGCCCCGGAG	0.602000													25	55					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804749	110804749	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:110804749C>T	ENST00000375820.4	-	51	4981	c.4860G>A	c.(4858-4860)ggG>ggA	p.G1620G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1620	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATTGCAGGTCCCACGGCCGT	0.582000													10	76					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600690	29600690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:29600690C>T	ENST00000431530.3	+	1	1943	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	619						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAGAACTATCAGGTTGAAAA	0.507000													12	43					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400742	117400742	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117400742C>T	ENST00000160373.3	-	10	3010	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	973										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACTGAAATCCTTAAGGGTA	0.328000													10	168					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138196884	138196884	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:138196884C>T	ENST00000237289.4	+	4	612	c.546C>T	c.(544-546)gcC>gcT	p.A182A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	182	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CACCCATGGCCCGAAGTGGAC	0.443000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								42	92					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76562747	76562747	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76562747C>T	ENST00000389840.5	-	11	1642	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	DNAH17_ENST00000585328.1_Silent_p.T506T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCAAAAGATCGTGGCCAGCC	0.463000													5	22					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997096	82997096	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82997096C>T	ENST00000307792.3	-	17	2601	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E652K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	712					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAGAATTCCTTGTACCAT	0.458000													5	266					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56975915	56975915	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56975915C>T	ENST00000262031.5	+	9	947	c.852C>T	c.(850-852)tcC>tcT	p.S284S	RBMS2_ENST00000552247.2_Silent_p.S284S|RBMS2_ENST00000550726.1_Silent_p.S159S|RBMS2_ENST00000542360.1_Silent_p.S139S	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	284					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CATACCTTTCCTCTCCTGTGT	0.468000													60	82					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152381110	152381110	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152381110G>A	ENST00000397345.3	-	152	22495	c.22293C>T	c.(22291-22293)gcC>gcT	p.A7431A	NEB_ENST00000604864.1_Silent_p.A7431A|NEB_ENST00000603639.1_Silent_p.A7431A|NEB_ENST00000172853.10_Silent_p.A5730A|NEB_ENST00000427231.2_Silent_p.A7431A|NEB_ENST00000409198.1_Silent_p.A5730A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5730					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTTCTCTTTGGCATCTTTTC	0.398000													18	270					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207522	53207522	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53207522C>T	ENST00000293774.4	-	1	813	c.543G>A	c.(541-543)ggG>ggA	p.G181G	KRT4_ENST00000551956.1_Silent_p.G107G|KRT4_ENST00000458244.2_Silent_p.G87G			B4DRS2	B4DRS2_HUMAN	keratin 4	107						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTGAATTCCCCCAGCGGGGC	0.612000													13	159					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755021	140755021	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140755021C>T	ENST00000517434.1	+	1	1371	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCATCCTACTCAGTCTATG	0.527000													13	235					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79603320	79603320	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:79603320G>A	ENST00000372391.2	-	6	1014	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	DLG5_ENST00000372388.2_Missense_Mutation_p.R337C	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	337					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTCCAGGCGGCTCAGGTCT	0.597000													11	242					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169673741	169673741	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169673741C>T	ENST00000236147.4	-	5	933	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	245	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGACCAGTTTCCAAATGGTCC	0.463000													5	17					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637852	7637852	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:7637852C>T	ENST00000359156.4	-	11	2821	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	CD163_ENST00000432237.2_Silent_p.G873G|CD163_ENST00000396620.3_Silent_p.G906G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Silent_p.G861G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	873	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						GGTTGATTTTCCCTTTGTCTG	0.512000													54	89					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729961	41729961	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:41729961C>T	ENST00000242208.4	-	3	814	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E190K|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	190					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCGGCCTCTTCCCCTGTGTCC	0.567000										TSP Lung(11;0.080)			51	81					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631978	68631978	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:68631978C>T	ENST00000423218.2	-	11	1231	c.1136G>A	c.(1135-1137)gGg>gAg	p.G379E	ITGA11_ENST00000315757.7_Missense_Mutation_p.G379E			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	379					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.G379V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGCAGAACCCCATCCTGGCA	0.597000													16	53					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23002047	23002047	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:23002047G>A	ENST00000312584.3	-	7	964	c.870C>T	c.(868-870)gtC>gtT	p.V290V		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	290					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	p.V290V(2)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGCTCAGAGACCTGGGTGG	0.577000													9	94					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40657902	40657902	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:40657902C>T	ENST00000454349.2	+	4	393	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TNRC6B_ENST00000402203.1_Missense_Mutation_p.S97L|TNRC6B_ENST00000335727.8_Missense_Mutation_p.S61L|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S97L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	61					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGCTCTCCATCGCCACCAGTC	0.587000													4	70					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152809	161152809	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:161152809G>A	ENST00000308192.9	+	12	1534	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	491	Kringle 5.				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)	AGGATACCGAGGCAAGAGGGC	0.512000													44	110					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1017870	1017870	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:1017870C>T	ENST00000398484.2	+	6	1279	c.699C>T	c.(697-699)acC>acT	p.T233T	FGFRL1_ENST00000504138.1_Silent_p.T233T|FGFRL1_ENST00000510644.1_Silent_p.T233T|FGFRL1_ENST00000264748.6_Silent_p.T233T			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	233	Ig-like C2-type 2.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCAACGCCACCTACAAGGTGG	0.711000													8	16					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2977629	2977629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:2977629G>A	ENST00000396946.4	-	8	1458	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	352					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCAGGGTCGAGCACTTGAG	0.547000			Mis		DLBCL								44	141					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533997	92533997	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:92533997A>C	ENST00000298047.6	+	9	7835	c.7818A>C	c.(7816-7818)agA>agC	p.R2606S	FAT3_ENST00000409404.2_Missense_Mutation_p.R2606S|FAT3_ENST00000525166.1_Missense_Mutation_p.R2456S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2606	Cadherin 24.				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)				TGGAATATAGAGCCAGTGTCA	0.478000										TCGA Ovarian(4;0.039)			9	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585377	179585377	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179585377G>A	ENST00000589042.1	-	80	23336	c.23112C>T	c.(23110-23112)ttC>ttT	p.F7704F	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F7387F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F6460F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7387	Ig-like 59.						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)			GCTTCTGGGTGAAAACAGGAG	0.388000													12	29					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43212021	43212021	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:43212021C>T	ENST00000522175.2	+	0	1344							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATATGGTTCATGTACTACA	0.368000													20	46					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508536	170508536	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:170508536C>T	ENST00000367763.3	+	2	342	c.322C>T	c.(322-324)Cct>Tct	p.P108S	GORAB_ENST00000367762.1_Missense_Mutation_p.P108S|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	108						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTTTCTTCCCCTACTCTTCC	0.468000													44	130					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91636449	91636449	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:91636449C>T	ENST00000518868.1	+	8	1050	c.360C>T	c.(358-360)ttC>ttT	p.F120F	C14orf159_ENST00000525393.2_Silent_p.F4F|C14orf159_ENST00000520328.1_Silent_p.F120F|C14orf159_ENST00000256324.10_Silent_p.F120F|C14orf159_ENST00000523771.1_Silent_p.F120F|C14orf159_ENST00000522322.1_Silent_p.F120F|C14orf159_ENST00000412671.2_Silent_p.F120F|C14orf159_ENST00000428926.2_Silent_p.F120F|C14orf159_ENST00000521077.2_Silent_p.F120F|C14orf159_ENST00000523816.1_Silent_p.F120F			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	120						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGTGGCCTTCTTCCTGGGCT	0.622000													40	77					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009359	201009359	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201009359C>T	ENST00000362061.3	-	43	5596	c.5370_splice	c.e43+1	p.K1790_splice	CACNA1S_ENST00000367338.3_Splice_Site_p.K1771_splice|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1790					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)	CCTGGCTCACCTTTTGGATCA	0.612000													19	66					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675471	22675471	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22675471C>T	ENST00000390461.2	+	0	54																											TATTGGGGTTCCAAGCAGCCT	0.478000													19	52					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762051	130762051	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:130762051G>A	ENST00000392429.1	+	2	2862	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D162N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D162N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	162						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACATGAGGGATATCTATTC	0.408000													41	80					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558416	149558416	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149558416C>T	ENST00000223210.4	+	7	2412	c.2167C>T	c.(2167-2169)Cac>Tac	p.H723Y		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCTGCCTGTCCACTGCGTGGC	0.632000													28	38					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552672	69552672	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:69552672T>C	ENST00000337103.4	+	7	2426	c.834T>C	c.(832-834)ttT>ttC	p.F278F	C8orf34_ENST00000539993.1_Silent_p.F303F|C8orf34_ENST00000518698.1_Silent_p.F389F|C8orf34_ENST00000325233.3_Silent_p.F47F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	303					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGAGCAAATTTAACCAAGGCC	0.408000													5	120					0	0	1	0	0
TMEM37	140738	broad.mit.edu	37	2	120194575	120194575	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:120194575C>T	ENST00000306406.4	+	2	167	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.S56S	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	44						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCTCGGTCTCCATTTGTGATG	0.612000													14	268					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41870438	41870438	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:41870438G>A	ENST00000196371.5	-	1	183	c.23C>T	c.(22-24)tCc>tTc	p.S8F	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	8					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AAGCCCGGAGGAGAGGAGTTT	0.657000													12	62					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185404	41185404	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41185404C>T	ENST00000564680.1	-	0	281																											CAAACACCACCAGGCTGACAT	0.483000													15	19					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627229	187627229	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:187627229C>T	ENST00000304698.5	+	8	2363	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	720						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTAGAAAGCTCGAGAGGGAGA	0.458000													33	74					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12224844	12224844	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:12224844G>A	ENST00000432424.2	+	0	1513							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACTCAAGCAAGACCCCACCTC	0.448000													22	25					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6636759	6636759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6636759G>A	ENST00000533371.1	-	9	1249	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	TPP1_ENST00000299427.6_Nonsense_Mutation_p.Q394*			O14773	TPP1_HUMAN	tripeptidyl peptidase I	394					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAAGGTTCCTGGAAGGATGTG	0.512000													32	25					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84502714	84502714	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:84502714G>A	ENST00000395226.2	+	4	426		c.e4-1		AGPAT9_ENST00000264409.4_Splice_Site	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9						phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TTTCTTTTAAGGTATTATCCA	0.408000													54	88					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764808	138764808	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138764808G>A	ENST00000242351.5	-	4	1195	c.879C>T	c.(877-879)ctC>ctT	p.L293L	ZC3HAV1_ENST00000471652.1_Silent_p.L293L|ZC3HAV1_ENST00000464606.1_Silent_p.L293L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	293					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACTTGCGGGTGAGATCGTCCA	0.597000													60	202					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016446	38016446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:38016446C>T	ENST00000261439.4	+	3	1089	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A245V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	245						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCTCGCTGGCCTTTAGGAAG	0.662000													15	40					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10314225	10314225	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10314225C>T	ENST00000403437.2	-	15	1550	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	486	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						TGCAGTTTCTCGTTGGTGAAG	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				77	117					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189862072	189862072	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189862072G>A	ENST00000304636.3	+	26	1996	c.1826G>A	c.(1825-1827)gGa>gAa	p.G609E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G609E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	609	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)	GGTCCTCCTGGAAAGAATGGT	0.443000													25	66					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201540	179201540	+	Missense_Mutation	SNP	C	C	T	rs61748800	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:179201540C>T	ENST00000292599.3	+	5	2976	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	905					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGCTACCCCCAGTGAGTGC	0.667000													15	39					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44180965	44180965	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:44180965C>T	ENST00000291539.6	+	13	1093	c.1033C>T	c.(1033-1035)Cta>Tta	p.L345L	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Silent_p.L218L|PDE9A_ENST00000328862.6_Silent_p.L319L|PDE9A_ENST00000398225.3_Silent_p.L304L|PDE9A_ENST00000398229.3_Silent_p.L211L|PDE9A_ENST00000539837.1_Silent_p.L217L|PDE9A_ENST00000398234.3_Silent_p.L244L|PDE9A_ENST00000398227.3_Silent_p.L185L|PDE9A_ENST00000380328.2_Silent_p.L292L|PDE9A_ENST00000398236.3_Silent_p.L259L|PDE9A_ENST00000349112.3_Silent_p.L217L|PDE9A_ENST00000398232.3_Silent_p.L278L|PDE9A_ENST00000335512.4_Silent_p.L285L|PDE9A_ENST00000335440.6_Silent_p.L243L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	345	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TATCCTGATCCTAATGACAGC	0.512000													22	58					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158468333	158468333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:158468333G>A	ENST00000409339.3	-	12	1275	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	NCAPG2_ENST00000275830.10_Missense_Mutation_p.P180S|NCAPG2_ENST00000449727.2_Missense_Mutation_p.P388S|NCAPG2_ENST00000356309.3_Missense_Mutation_p.P388S|NCAPG2_ENST00000409423.1_Missense_Mutation_p.P388S			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	388					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATCGGGTAAGGATCTTCTAAA	0.448000													31	75					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767677	57767677	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57767677C>T	ENST00000371030.2	+	1	1603	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	535						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCTCTGAGCCCCAGGCCCGG	0.721000													12	11					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33342786	33342786	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33342786C>T	ENST00000379540.3	+	13	2220	c.2158C>T	c.(2158-2160)Cgt>Tgt	p.R720C	NFX1_ENST00000379521.4_Missense_Mutation_p.R720C|NFX1_ENST00000318524.6_Missense_Mutation_p.R720C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	720					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGGAAACTCCGTTGTGGCCT	0.393000													7	15					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682324	108682324	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:108682324G>A	ENST00000232603.5	-	27	2818	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	MORC1_ENST00000483760.1_Silent_p.I891I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	912					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						TATCCTCAGAGATTTTTCTTT	0.338000													51	121					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133055545	133055545	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:133055545A>C	ENST00000417437.2	-	1	286	c.287T>G	c.(286-288)tTt>tGt	p.F96C	VNN3_ENST00000414302.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392394.2_Intron|VNN3_ENST00000367927.5_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000275223.3_Intron					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AGTGGGGCAAAAAAGTTTGTC	0.428000													28	51					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37863388	37863388	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37863388C>T	ENST00000406381.2	+	4	639	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ERBB2_ENST00000269571.5_Silent_p.F73F|ERBB2_ENST00000584450.1_Silent_p.F73F|ERBB2_ENST00000540147.1_Silent_p.F43F|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.F43F|ERBB2_ENST00000540042.1_Silent_p.F43F|ERBB2_ENST00000578199.1_Silent_p.F43F|ERBB2_ENST00000541774.1_Silent_p.F58F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	73					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCCTGTCCTTCCTGCAGGTGA	0.647000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			17	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434351	179434351	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179434351T>G	ENST00000589042.1	-	326	76732	c.76508A>C	c.(76507-76509)gAa>gCa	p.E25503A	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16563A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23862A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22935A|TTN_ENST00000460472.2_Missense_Mutation_p.E16438A|TTN_ENST00000342175.6_Missense_Mutation_p.E16630A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23862	Fibronectin type-III 85.						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)			TTCTAATTTTTCTTCAACTAT	0.378000													11	28					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135616903	135616903	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:135616903C>T	ENST00000356140.5	+	3	311	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.F17F|ACMSD_ENST00000283054.4_Silent_p.F17F	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	59					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TCCAGAAGTTCGTATTAGAGA	0.418000													22	46					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11034875	11034875	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11034875C>T	ENST00000428168.2	-	4	497	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	154						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGTGGGCGGCCCCCTTGGGGA	0.582000													6	162					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39101896	39101896	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39101896C>T	ENST00000591517.1	-	10	743	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	MAP4K1_ENST00000589130.1_Missense_Mutation_p.E235K|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E239K|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Missense_Mutation_p.E239K	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	239	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGCCTTTTTCCTTCAGTCGG	0.572000													30	45					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998925	120998925	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:120998925C>T	ENST00000392793.1	+	9	2510	c.2239C>T	c.(2239-2241)Cca>Tca	p.P747S	TECTA_ENST00000264037.2_Missense_Mutation_p.P747S			O75443	TECTA_HUMAN	tectorin alpha	747	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGAGCGCCCAGAGTACTT	0.602000													56	62					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23240303	23240303	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:23240303A>T	ENST00000400191.3	+	17	3126	c.3108A>T	c.(3106-3108)caA>caT	p.Q1036H	EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1036					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGGAAATACAAGGAATATTTT	0.438000													7	12					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513235	106513235	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:106513235C>T	ENST00000359195.3	+	4	2449	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	PIK3CG_ENST00000496166.1_Silent_p.F713F|PIK3CG_ENST00000440650.2_Silent_p.F713F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	713					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCAGAGGTTCGCTGTGATTC	0.463000													52	160					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860918	13860918	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13860918G>A	ENST00000285018.4	-	4	877	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	191					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCTCCTCCAGGATCTGCAGGG	0.657000													32	106					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621313	24621313	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:24621313G>A	ENST00000327365.4	-	10	1819	c.1403C>T	c.(1402-1404)cCa>cTa	p.P468L	GGT5_ENST00000263112.7_Missense_Mutation_p.P436L|GGT5_ENST00000418439.2_Missense_Mutation_p.P392L|GGT5_ENST00000398292.3_Missense_Mutation_p.P469L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	468					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CATGGAGGATGGGGAACGCTC	0.622000													72	120					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451088	10451088	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10451088C>T	ENST00000245503.5	-	3	534	c.150G>A	c.(148-150)ggG>ggA	p.G50G	MYH2_ENST00000397183.2_Silent_p.G50G|MYH2_ENST00000532183.1_Silent_p.G50G|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	50	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTGGATGGTCCCTTTGACAA	0.493000													68	101					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458649	121458649	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:121458649G>A	ENST00000257570.5	-	6	1530	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	420	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGAGTGTGGGAGAAGATCC	0.562000													38	82					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100948315	100948315	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100948315G>A	ENST00000193391.7	-	17	3729	c.3542C>T	c.(3541-3543)cCc>cTc	p.P1181L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1181					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCTGTAGAAGGGATGCTGAGG	0.502000													45	113					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067617	66067617	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:66067617A>C	ENST00000349533.6	+	10	1562	c.1377A>C	c.(1375-1377)gaA>gaC	p.E459D	LEPR_ENST00000344610.8_Missense_Mutation_p.E459D|LEPR_ENST00000371060.3_Missense_Mutation_p.E459D|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.E459D|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.E459D	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	459					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CACTTGCGGAAAGCACTTTGC	0.338000													28	116					0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102891860	102891860	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102891860T>C	ENST00000370196.6	+	1	2604	c.562T>C	c.(562-564)Ttc>Ctc	p.F188L	TLX1_ENST00000467928.2_Missense_Mutation_p.F188L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAGGACAGGTTCACAGGTGA	0.697000			T	"""TRB@, TRD@"""	T-ALL								3	47					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504948	70504948	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:70504948G>A	ENST00000310961.5	+	22	3760	c.3342G>A	c.(3340-3342)agG>agA	p.R1114R	LRRC7_ENST00000035383.5_Silent_p.R1109R|LRRC7_ENST00000415775.2_Silent_p.R393R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1109						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGGGCCAGGGCGGGCTTCC	0.547000													4	158					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307612	46307612	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46307612C>T	ENST00000510861.1	-	7	849	c.676G>A	c.(676-678)Gga>Aga	p.G226R	GABRA2_ENST00000381620.4_Missense_Mutation_p.G226R|GABRA2_ENST00000507069.1_Missense_Mutation_p.G226R|GABRA2_ENST00000356504.1_Missense_Mutation_p.G226R|GABRA2_ENST00000514090.1_Missense_Mutation_p.G226R|GABRA2_ENST00000540012.1_Missense_Mutation_p.G171R|GABRA2_ENST00000515082.1_Missense_Mutation_p.G226R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	226					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCTCCTTTCCGATTGATTGG	0.378000													36	81					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47205970	47205970	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:47205970C>T	ENST00000319190.5	+	5	1056	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	TTC7A_ENST00000409245.1_Missense_Mutation_p.H196Y|TTC7A_ENST00000394850.2_Missense_Mutation_p.H230Y|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	230							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAAGGCTGTCACCCGCTTGA	0.522000													23	50					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885866	89885866	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:89885866G>A	ENST00000513638.1	+	0	406					NR_003133.2																						GGGTCTGGGAGATGTAGAGAA	0.463000													55	83					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084959	63084959	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:63084959C>T	ENST00000561311.1	+	45	6086	c.5856C>T	c.(5854-5856)atC>atT	p.I1952I	TLN2_ENST00000306829.6_Silent_p.I1952I			Q9Y4G6	TLN2_HUMAN	talin 2	1952					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGAGCTGATCGAATGCGCCC	0.592000													8	41					0	0	1	0	0
CENPC	1060	broad.mit.edu	37	4	68384986	68384986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:68384986G>A	ENST00000273853.6	-	6	816	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_001812.2	NP_001803.2			centromere protein C																		CATATTTACTGAATTTTCAAA	0.308000													50	65					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860912	13860912	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13860912C>T	ENST00000285018.4	-	4	883	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCATGTTCTCCTCCAGGATCT	0.657000													36	111					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886514	47886514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:47886514G>A	ENST00000289672.2	-	32	5166	c.5116C>T	c.(5116-5118)Cca>Tca	p.P1706S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1706	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTGGTTGTGGAGAGAAACGT	0.403000													50	89					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15441089	15441089	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:15441089C>T	ENST00000376030.2	+	15	2580	c.2286C>T	c.(2284-2286)tgC>tgT	p.C762C		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	762					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGAACAGTGCCGTCTGGAAG	0.552000													10	17					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866275	166866275	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166866275C>T	ENST00000423058.2	-	20	3973	c.3956G>A	c.(3955-3957)aGa>aAa	p.R1319K	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1291K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1308K|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1319K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1319						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTCAGAGCTCTTAGTGTCCT	0.373000													46	70					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167551905	167551905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167551905G>A	ENST00000519204.1	+	10	1814	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.E455K|TENM2_ENST00000518659.1_Missense_Mutation_p.E687K|TENM2_ENST00000545108.1_Missense_Mutation_p.E687K|TENM2_ENST00000403607.2_Missense_Mutation_p.E520K					teneurin transmembrane protein 2																		TGTGAATGGAGAATGCCTGTG	0.517000													13	22					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101136606	101136606	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:101136606G>A	ENST00000394095.2	-	5	366	c.313C>T	c.(313-315)Cta>Tta	p.L105L	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Silent_p.L105L|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000348610.3_Silent_p.L72L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	105					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCGTCCATAGGACATTCGTC	0.358000													10	100					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51154147	51154147	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:51154147C>T	ENST00000414786.2	+	20	2501	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	SHANK3_ENST00000262795.3_Silent_p.S788S|SHANK3_ENST00000445220.2_Silent_p.S774S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	788										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCCGGGCTCCTTGCGGAAGG	0.662000													15	147					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70072651	70072651	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70072651C>T	ENST00000330891.5	-	5	730	c.504G>A	c.(502-504)agG>agA	p.R168R	BEST3_ENST00000331471.4_Silent_p.R168R|BEST3_ENST00000553096.1_Silent_p.R62R|BEST3_ENST00000488961.1_Silent_p.R6R|BEST3_ENST00000476098.1_Silent_p.R6R	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	168						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAATAATTTCCTTTCATCTG	0.343000													17	33					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684329	27684329	+	Missense_Mutation	SNP	G	G	A	rs148022982	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:27684329G>A	ENST00000374040.3	-	21	3190	c.2930C>T	c.(2929-2931)cCg>cTg	p.P977L	MAP3K6_ENST00000493901.1_Missense_Mutation_p.P985L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.P985L			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	985					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACTCTCCTCCGGAGACGCAGG	0.677000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	14					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488222	137488222	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137488222C>T	ENST00000254900.5	-	21	3176	c.2805G>A	c.(2803-2805)caG>caA	p.Q935Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	935					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGCCGCTTCCTGAGATTCCT	0.512000													128	224					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59852042	59852042	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:59852042G>A	ENST00000361421.1	-	3	450	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	77						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTCTGGGAGGGAAGGAGGAGT	0.463000													40	72					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35826155	35826155	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35826155C>T	ENST00000423537.2	-	2	273	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	2										endometrium(2)|kidney(1)|lung(4)	7						TCATGTGCTTCCATCTAGTGG	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	85					0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36808492	36808492	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:36808492G>A	ENST00000379245.4	-	4	623	c.575C>T	c.(574-576)tCa>tTa	p.S192L	FEZ2_ENST00000305852.7_Missense_Mutation_p.S21L|FEZ2_ENST00000405912.3_Missense_Mutation_p.S192L	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	192					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GGAAAGCATTGAAAGCCGATC	0.428000													71	170					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675243	1675243	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:1675243C>T	ENST00000254722.4	+	5	680	c.517C>T	c.(517-519)Cct>Tct	p.P173S		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	173					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GACGGGCAACCCTCGCTTGGA	0.547000													22	33					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14659954	14659954	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:14659954C>T	ENST00000240617.5	-	9	1937	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	429					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAGCTAAATCATAAGAGTAG	0.433000													43	86					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10158000	10158000	+	RNA	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:10158000T>G	ENST00000495140.1	+	0	1208																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TGTAGGTCTCTGTGTCTCGGA	0.552000													9	228					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558446	172558446	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:172558446A>T	ENST00000367723.3	+	17	2785	c.2661A>T	c.(2659-2661)ttA>ttT	p.L887F	SUCO_ENST00000263688.3_Missense_Mutation_p.L735F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTCTTCTTTTAGATATTACCC	0.403000													37	105					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149829	27149829	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:27149829G>A	ENST00000396352.4	-	2	630	c.431C>T	c.(430-432)cCc>cTc	p.P144L	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.P144L	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	144					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTGAGCAGGGGGCTCTTGGC	0.597000													32	67					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965040	42965040	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:42965040G>A	ENST00000399770.2	+	2	516	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	172	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AATTTGAAGAGAAAAACATAG	0.433000													116	203					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360203	40360203	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:40360203G>A	ENST00000338305.6	-	3	2391	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	617						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)					TCACTGGCGCGGGCCAGGCTG	0.756000													5	26					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748082	46748082	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:46748082G>A	ENST00000311907.5	+	8	965	c.909G>A	c.(907-909)ctG>ctA	p.L303L	F2_ENST00000530231.1_Silent_p.L303L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	303					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GAGATGGGCTGGATGAGGACT	0.632000													19	50					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721264	183721264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:183721264C>T	ENST00000511685.1	+	28	7983	c.7860C>T	c.(7858-7860)atC>atT	p.I2620I	TENM3_ENST00000406950.2_Silent_p.I2620I					teneurin transmembrane protein 3																		AGGCGCGCATCCTGGAGCAGG	0.761000													4	13					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013586	95013586	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:95013586C>T	ENST00000357742.4	+	20	2385	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	MCTP2_ENST00000451018.3_Silent_p.F740F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	795					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGTCCCCTTCCTTTCATCTC	0.408000													59	115					0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1500272	1500272	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1500272G>A	ENST00000359060.4	-	2	131	c.105C>T	c.(103-105)tcC>tcT	p.S35S	SSU72_ENST00000291386.3_Silent_p.S35S			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	35					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTGTTCCAAAGGATCGGACGC	0.453000													35	57					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577371	9577371	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9577371G>T	ENST00000301480.4	-	10	2465	c.2252C>A	c.(2251-2253)aCa>aAa	p.T751K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCCTGAGGATGTACGGAAGGC	0.433000													38	86					8.73648e-17	8.81582e-17	1	1	0
DHX57	90957	broad.mit.edu	37	2	39029922	39029922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:39029922G>A	ENST00000295373.6	-	23	4078	c.3952C>T	c.(3952-3954)Caa>Taa	p.Q1318*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1318							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCTCCTCTTTGAAGCTGCACA	0.483000													9	200					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241714274	241714274	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:241714274C>T	ENST00000366559.4	+	4	553	c.242C>T	c.(241-243)cCc>cTc	p.P81L	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.P81L|KMO_ENST00000366558.3_Missense_Mutation_p.P81L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	81					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CAAGGTATTCCCATGAGAGCA	0.378000													5	272					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154587593	154587593	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154587593G>A	ENST00000404039.1	+	12	1694	c.1107_splice	c.e12+1	p.Q369_splice	DPP6_ENST00000427557.1_Splice_Site_p.Q326_splice|DPP6_ENST00000377770.3_Splice_Site_p.Q433_splice|DPP6_ENST00000332007.3_Splice_Site_p.Q371_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	433					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCACAGACAGGTAACTACTG	0.483000													13	34					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78676549	78676549	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:78676549G>A	ENST00000436010.2	-	24	4677	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1166F|ROBO1_ENST00000464233.1_Missense_Mutation_p.S1266F|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1221F			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1266					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCCTGTGGGGAGGGAGTCAG	0.577000													10	18					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87148735	87148735	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87148735G>A	ENST00000265724.3	-	24	3251	c.2834C>T	c.(2833-2835)aCc>aTc	p.T945I	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.T881I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	945	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CATTGCCTGGGTGAAGGAAAA	0.383000													26	138					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39002915	39002915	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:39002915G>A	ENST00000355481.4	+	63	9395	c.9264G>A	c.(9262-9264)gtG>gtA	p.V3088V	RYR1_ENST00000360985.3_Silent_p.V3088V|RYR1_ENST00000359596.3_Silent_p.V3088V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3088					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	CTGAGATCGTGAAGGCTGGCC	0.627000													38	77					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58295607	58295607	+	Missense_Mutation	SNP	G	G	A	rs147430012		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58295607G>A	ENST00000528954.1	-	8	934	c.815C>T	c.(814-816)tCa>tTa	p.S272L	LPXN_ENST00000395074.2_Missense_Mutation_p.S267L|LPXN_ENST00000528489.1_Missense_Mutation_p.S247L	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	267	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACACTTGGGTGAGAACATGGC	0.483000													47	109					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:69433930C>T	ENST00000317746.2	-	1	315	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000													38	19					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16260953	16260953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:16260953G>A	ENST00000339732.5	+	7	1939	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K	GALNT15_ENST00000437509.1_Missense_Mutation_p.R479K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R479I(1)									CTGCAAAGGAGACTGGGTTGT	0.527000													105	191					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184192	56184192	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:56184192C>T	ENST00000361673.3	-	9	6101	c.5888G>A	c.(5887-5889)gGg>gAg	p.G1963E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTCTGGTCCCATAGGCAAT	0.542000													11	186					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746986	81746986	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81746986C>T	ENST00000550584.2	-	16	2201	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	PPFIA2_ENST00000548586.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D562N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D618N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D483N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D537N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D618N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D203N	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	562										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGAGAAGATCCATTGAGCTA	0.408000													23	87					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717505	13717505	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13717505G>A	ENST00000265104.4	-	73	12728	c.12624C>T	c.(12622-12624)atC>atT	p.I4208I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4208	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCGTAGGGGATATTCCACC	0.542000									Kartagener syndrome				21	24					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588683	20588683	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20588683C>T	ENST00000428453.1	-	0	4067																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCTTCTTCTCCAAAAACAAC	0.318000													11	107					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602586	138602586	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138602586G>A	ENST00000440172.1	-	2	1834	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P596S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P546S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	596	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCCACTGAAGGAACCAGACTA	0.448000			O	BRAF	pilocytic astrocytoma								16	23					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106310817	106310817	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:106310817G>A	ENST00000372487.1	-	7	1208	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	RBM41_ENST00000372479.3_Silent_p.L394L	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	394							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						AAGTCGCTTGGAGATTTGACC	0.378000													116	40					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19056710	19056710	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:19056710C>T	ENST00000421369.3	+	11	1731	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	TMC7_ENST00000569532.1_Silent_p.F501F|TMC7_ENST00000304381.5_Silent_p.F501F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	501						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGATGATCTTCGACTTCATCA	0.488000													42	65					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117786296	117786296	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117786296G>A	ENST00000350763.4	-	27	6862	c.6451C>T	c.(6451-6453)Cgt>Tgt	p.R2151C	TNC_ENST00000542877.1_Missense_Mutation_p.R1788C|TNC_ENST00000537320.1_Missense_Mutation_p.R1514C|TNC_ENST00000341037.4_Missense_Mutation_p.R1969C|TNC_ENST00000345230.3_Missense_Mutation_p.R1514C|TNC_ENST00000423613.2_Missense_Mutation_p.R1878C|TNC_ENST00000535648.1_Missense_Mutation_p.R1696C|TNC_ENST00000340094.3_Missense_Mutation_p.R1787C|TNC_ENST00000346706.3_Missense_Mutation_p.R1605C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2151	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGTTGACACGGTGACAGTTC	0.547000													68	153					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50812399	50812399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50812399G>A	ENST00000440075.2	+	42	5972	c.5925G>A	c.(5923-5925)atG>atA	p.M1975I	MYH14_ENST00000601313.1_Missense_Mutation_p.M1975I|MYH14_ENST00000598205.1_Missense_Mutation_p.M1942I|MYH14_ENST00000596571.1_Missense_Mutation_p.M1934I|MYH14_ENST00000425460.1_Missense_Mutation_p.M1942I|MYH14_ENST00000376970.2_Missense_Mutation_p.M1967I|MYH14_ENST00000262269.8_Missense_Mutation_p.M1975I			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1934					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCGAGTCCATGAACCGTGAAG	0.647000													45	121					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757771	106757771	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106757771G>A	ENST00000390611.2	-	0	259																											TGTGCTGTAGGATTTTTCGTC	0.532000													34	83					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95875315	95875315	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:95875315T>C	ENST00000375464.2	+	6	606	c.478T>C	c.(478-480)Tcg>Ccg	p.S160P	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	0					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCTCGGTTTCTCGCCTGTCAT	0.602000													11	20					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691583	12691583	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12691583G>A	ENST00000311437.6	-	5	1428	c.1306C>T	c.(1306-1308)Cat>Tat	p.H436Y	CTD-2192J16.20_ENST00000593682.1_Silent_p.S69S	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GTTCTTTCATGGATTCGAAAG	0.418000													6	171					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542972	14542972	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:14542972C>T	ENST00000358970.5	-	1	173	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	58										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATCTTGCTCCTGAGCATCT	0.577000													95	391					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249898	52249898	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52249898G>A	ENST00000595042.1	-	3	491	c.350C>T	c.(349-351)gCc>gTc	p.A117V	FPR1_ENST00000304748.4_Missense_Mutation_p.A117V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	117					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGCAATGAGGGCGATCAGGAA	0.557000													22	83					0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23433277	23433277	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23433277C>T	ENST00000377009.3	-	1	205	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CST11_ENST00000377007.3_Missense_Mutation_p.E58K	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	58					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCATCACTTTCCTTGTTATAC	0.498000													82	127					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542548	2542548	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:2542548C>T	ENST00000358864.1	+	4	461	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	149	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGTCCCTGTCCGAGGAGGAA	0.607000													39	75					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52221185	52221185	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:52221185G>A	ENST00000282588.6	+	19	2939	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	827					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCACTGAAAAGGACCTGCTGA	0.423000													34	69					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730195	93730195	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:93730195G>A	ENST00000334746.5	-	4	1614	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	BTBD7_ENST00000554565.1_Missense_Mutation_p.S85L|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436								p.S436L(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAACATCCGAAGTCATGAC	0.423000													48	87					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150835294	150835294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150835294G>A	ENST00000397238.2	+	12	1560	c.1560G>A	c.(1558-1560)tgG>tgA	p.W520*	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	484	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCGGCCTGGGCTGGCCCGC	0.726000													27	33					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759027	176759027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176759027C>T	ENST00000367662.3	+	18	5962	c.4798C>T	c.(4798-4800)Cct>Tct	p.P1600S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1600	Sushi 4.				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						GCCACCCCCTCCTGTGTTTGA	0.478000													25	87					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82040457	82040457	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:82040457C>T	ENST00000372213.3	-	4	644	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	128					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCCCCACATCCTCCTCATTTC	0.547000													5	184					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733218	52733218	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:52733218C>T	ENST00000360540.5	-	7	1173	c.767G>A	c.(766-768)aGa>aAa	p.R256K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R256K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R180K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	256						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TATGAAATTTCTAAGTGTGCG	0.388000													8	151					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106861775	106861775	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:106861775G>A	ENST00000379987.2	+	7	961	c.745G>A	c.(745-747)Gat>Aat	p.D249N	NPNT_ENST00000453617.2_Missense_Mutation_p.D266N|NPNT_ENST00000427316.2_Missense_Mutation_p.D279N|NPNT_ENST00000305572.8_Missense_Mutation_p.D249N|NPNT_ENST00000514622.1_Missense_Mutation_p.D249N|NPNT_ENST00000506666.1_Missense_Mutation_p.D279N	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	249	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ATACCAGGGTGATGGACTGAC	0.433000													42	104					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38350618	38350618	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38350618G>A	ENST00000322350.5	+	4	653	c.307G>A	c.(307-309)Gat>Aat	p.D103N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D103N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	103	Fibronectin type-III 1.					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)					AGTGATTGGAGATTTGAAACC	0.463000													46	180					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46388181	46388181	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46388181C>T	ENST00000507460.1	-	3	429	c.97G>A	c.(97-99)Gat>Aat	p.D33N	GABRA2_ENST00000381620.4_Missense_Mutation_p.D33N|GABRA2_ENST00000507069.1_Missense_Mutation_p.D33N|GABRA2_ENST00000356504.1_Missense_Mutation_p.D33N|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.D33N|GABRA2_ENST00000510861.1_Missense_Mutation_p.D33N|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.D33N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	33					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAGCCTCATCTTCTTGGATG	0.363000													16	41					0	0	1	0	0
AC005863.1	0	broad.mit.edu	37	17	14683192	14683192	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:14683192C>T	ENST00000379640.1	-	0	328																											CTTACGAGTTCACAGCCAAGT	0.458000													35	110					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037524	14037524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14037524C>T	ENST00000318003.7	+	19	2300	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P687S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	687	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTTTGACTTCCCCTATCCCAA	0.622000													11	212					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421041	53421041	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:53421041G>A	ENST00000377942.3	-	1	1734	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S	PCDH8_ENST00000338862.4_Missense_Mutation_p.P511S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	511	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGCCTGGCGGGTTGTTCTCG	0.731000													3	15					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52412783	52412783	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52412783C>T	ENST00000420323.2	+	47	7625	c.7364C>T	c.(7363-7365)cCg>cTg	p.P2455L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2455					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)		ATGGCTGACCCGGCCAAGGTC	0.627000													32	120					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082303	140082303	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:140082303G>A	ENST00000323927.2	-	2	374	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGCAGGTAGGGATCCAGGCGG	0.577000													50	119					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040110	88040110	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:88040110C>T	ENST00000319595.4	+	1	265	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	71					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CACAGATTTTCTTGTGGCTGT	0.453000													26	95					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50471844	50471844	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:50471844C>T	ENST00000435965.1	-	3	478	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R33Q|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R102Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	102					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GAACAGGTTCCGGTTGTCCTT	0.577000													48	93					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098437	69098437	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69098437C>T	ENST00000295379.1	-	1	212	c.54G>A	c.(52-54)ttG>ttA	p.L18L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	18					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGCCAGAAACCAAGTAAGCTG	0.527000													43	80					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747794	61747794	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:61747794G>A	ENST00000577390.1	-	10	2559	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Silent_p.L535L|CDH8_ENST00000577730.1_Silent_p.L535L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTGGAAGGAGACTGTATA	0.348000													28	31					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599530	136599530	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136599530T>A	ENST00000531224.1	-	4	741	c.489A>T	c.(487-489)gaA>gaT	p.E163D	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163D|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTTTGTTTTTCCTGAGACC	0.433000													58	309					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78381264	78381264	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:78381264C>T	ENST00000278550.7	-	32	6588	c.6126G>A	c.(6124-6126)aaG>aaA	p.K2042K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGTTGATGGTCTTCAGCATGC	0.527000													18	42					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42950305	42950305	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42950305C>T	ENST00000541208.1	+	3	424	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.P79S|ZNF662_ENST00000440367.2_Missense_Mutation_p.P19S|ZNF662_ENST00000422021.1_Missense_Mutation_p.P19S|ZNF662_ENST00000430067.2_3'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ATTTCCCAAACCGGCTCTGAT	0.572000													100	220					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204092086	204092086	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:204092086C>T	ENST00000367204.1	+	10	1238	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	377					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCCCCTTCCGTAAGGTATG	0.622000													3	25					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877400	28877400	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:28877400G>A	ENST00000282397.4	-	30	4172	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F	FLT1_ENST00000540678.1_Silent_p.F525F|FLT1_ENST00000543394.1_Silent_p.F330F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1307					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|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)	GGTCGTAGGTGAACCTGCGCT	0.577000													42	87					0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68521038	68521038	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:68521038C>T	ENST00000263655.3	-	3	1056	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	151							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTGCGTGTCTCGTTGGGCTTG	0.468000													14	104					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114000313	114000313	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:114000313C>T	ENST00000429538.3	-	5	626	c.432G>A	c.(430-432)atG>atA	p.M144I	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.M144I|PAX8_ENST00000348715.5_Missense_Mutation_p.M144I|PAX8_ENST00000263334.5_Missense_Mutation_p.M144I|PAX8_ENST00000263335.7_Missense_Mutation_p.M144I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	144					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGCAGCTGTCCATAGGGAGGT	0.532000			T	PPARG	follicular thyroid		Thyroid dysgenesis						13	149					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109700204	109700204	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109700204C>T	ENST00000338432.7	+	49	6836	c.6717C>T	c.(6715-6717)ttC>ttT	p.F2239F	ACACB_ENST00000377848.3_Silent_p.F2239F|ACACB_ENST00000377854.5_Silent_p.F2169F|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2239	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGATTAAGTTCCGAAAGAAAG	0.502000													20	45					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436677	248436677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248436677C>T	ENST00000318021.2	-	1	461	c.440G>A	c.(439-441)tGg>tAg	p.W147*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACCCAGGAGCCAACACGACAT	0.592000													42	259					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81371271	81371271	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:81371271G>A	ENST00000555265.1	-	6	741	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CEP128_ENST00000327841.2_Silent_p.L62L|CEP128_ENST00000281129.3_Silent_p.L122L|CEP128_ENST00000216517.6_Silent_p.L122L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	122						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAAATGATGGAGCTCTTCAC	0.403000													39	61					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390490	107390490	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:107390490G>A	ENST00000429433.2	-	5	2554	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	BEND3_ENST00000369042.1_Silent_p.F635F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	635	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTTTGCCCACGAACTCCAGGG	0.657000													25	48					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167217996	167217996	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167217996C>T	ENST00000308378.3	-	14	2225	c.1920G>A	c.(1918-1920)agG>agA	p.R640R	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.R605R|WDR49_ENST00000476376.1_Silent_p.R465R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	640										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGGTTCTTTCCTAAAGTATT	0.438000													112	170					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431725	89431725	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:89431725C>T	ENST00000532352.1	+	0	2007							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTGCAGCCTTCACAGTGCAGG	0.428000													41	88					0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6735375	6735375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:6735375C>T	ENST00000297439.3	-	1	169	c.5G>A	c.(4-6)aGa>aAa	p.R2K		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	2					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		GTAGGAAGTTCTCATGGCGAC	0.562000													25	67					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136082625	136082625	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:136082625C>T	ENST00000372034.3	-	4	417	c.376G>A	c.(376-378)Gga>Aga	p.G126R	OBP2B_ENST00000372032.2_Missense_Mutation_p.G81E|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	126					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		ACAAGCTTTCCCATGTGGAGC	0.617000													32	58					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489445	76489445	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:76489445C>T	ENST00000435974.2	+	3	251	c.233C>T	c.(232-234)cCa>cTa	p.P78L	C4orf26_ENST00000311623.4_Silent_p.P63P	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGCCCAGCCCATCACAAAGA	0.527000													46	91					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155567726	155567726	+	Silent	SNP	C	C	T	rs139259621		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:155567726C>T	ENST00000401878.3	+	18	3702	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	RBM33_ENST00000341148.3_Silent_p.I104I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1168	RRM.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGGCCCTGATCGTGGAGTGAG	0.502000													4	115					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826100	46826100	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46826100C>T	ENST00000283296.7	-	17	3828	c.3540G>A	c.(3538-3540)ctG>ctA	p.L1180L	GPR116_ENST00000456426.2_Silent_p.L1038L|GPR116_ENST00000362015.4_Silent_p.L1180L|GPR116_ENST00000265417.7_Silent_p.L1180L|GPR116_ENST00000545669.1_Silent_p.L609L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCACAATGATCAGTGCTGGGA	0.547000													80	66					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570257	61570257	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:61570257C>T	ENST00000457692.1	+	9	1299	c.966C>T	c.(964-966)tcC>tcT	p.S322S	SERPINB2_ENST00000299502.4_Silent_p.S322S	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	322					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AACTCAGATCCATTCTGAGAA	0.453000													24	69					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86822874	86822874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:86822874C>T	ENST00000441037.2	+	15	2037	c.1942C>T	c.(1942-1944)Cat>Tat	p.H648Y	AGBL1_ENST00000389298.3_Missense_Mutation_p.H379Y|AGBL1_ENST00000421325.2_Missense_Mutation_p.H648Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	648					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cttTAGAAATCATTATCGCCA	0.498000													31	51					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858656	9858656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:9858656C>T	ENST00000396573.2	-	14	3054	c.2745G>A	c.(2743-2745)atG>atA	p.M915I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	915					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGGTGAGTCCATTCTTGAGG	0.463000													97	188					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32391985	32391985	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:32391985C>T	ENST00000283365.9	+	7	862	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	DTNA_ENST00000399121.5_Missense_Mutation_p.L171F|DTNA_ENST00000598774.1_Missense_Mutation_p.L171F|DTNA_ENST00000596745.1_Missense_Mutation_p.L171F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269191.6_Missense_Mutation_p.L171F|DTNA_ENST00000399113.3_Missense_Mutation_p.L171F|DTNA_ENST00000315456.6_Missense_Mutation_p.L171F|DTNA_ENST00000554864.3_Missense_Mutation_p.L171F|DTNA_ENST00000348997.5_Missense_Mutation_p.L171F|DTNA_ENST00000598142.1_Missense_Mutation_p.L171F|DTNA_ENST00000444659.1_Missense_Mutation_p.L171F|DTNA_ENST00000269190.7_Missense_Mutation_p.L171F|DTNA_ENST00000595022.1_Missense_Mutation_p.L171F|DTNA_ENST00000598334.1_Missense_Mutation_p.L171F|DTNA_ENST00000597599.1_Missense_Mutation_p.L171F	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	171	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGACCAATTCCTTCGGGAAGT	0.418000													4	102					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927064	23927064	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:23927064C>T	ENST00000402377.3	-	4	1429	c.1288G>A	c.(1288-1290)Gct>Act	p.A430T	ZNF681_ENST00000395385.3_Missense_Mutation_p.A361T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGGTTAGAAGCTTTGCCACAT	0.378000													15	47					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117819679	117819679	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:117819679C>T	ENST00000276204.6	+	53	6217	c.6143C>T	c.(6142-6144)cCc>cTc	p.P2048L	DOCK11_ENST00000276202.7_Missense_Mutation_p.P2044L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2044					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATGCATTCTCCCTGGATGAGC	0.378000													77	32					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622593	18622593	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:18622593T>C	ENST00000379989.3	+	13	1834	c.1549T>C	c.(1549-1551)Ttc>Ctc	p.F517L	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.F517L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	517					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAGTAGGTACTTCCCATCTAG	0.537000													79	189					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27794234	27794234	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:27794234G>A	ENST00000261716.3	+	3	723	c.204_splice	c.e3+1	p.E68_splice	TAOK1_ENST00000536202.1_Splice_Site_p.E68_splice	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	68	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTCTACTGAGGTAGGTTAAA	0.353000													24	55					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287593	46287593	+	Missense_Mutation	SNP	C	C	T	rs5803307		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:46287593C>T	ENST00000378966.3	+	2	741	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	SPERT_ENST00000310521.1_Missense_Mutation_p.P145S			Q8NA61	SPERT_HUMAN	spermatid associated	145						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTGCAGTCTCCCTACTTCTC	0.617000													58	111					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658701	55658701	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55658701G>A	ENST00000449290.2	+	7	1044	c.952G>A	c.(952-954)Gat>Aat	p.D318N	TRIM51_ENST00000244891.3_Missense_Mutation_p.D175N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	318	B30.2/SPRY.					intracellular	zinc ion binding	p.D318N(1)|p.D159N(1)									CCCTCAAGATGATCCCGATAT	0.428000													62	127					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104512811	104512811	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:104512811C>T	ENST00000304883.2	-	4	1058	c.918G>A	c.(916-918)atG>atA	p.M306I	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	306						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAGCAAATGTCATGACAACAA	0.323000													13	28					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678714	53678714	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53678714C>T	ENST00000396424.3	-	3	215	c.126G>A	c.(124-126)agG>agA	p.R42R	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		AGACCAGGTTCCTATAATTCT	0.483000													9	209					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61475717	61475717	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:61475717G>A	ENST00000398571.2	-	49	6399	c.6323C>T	c.(6322-6324)tCc>tTc	p.S2108F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2108					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAATGGGAAGGAAAAGTGTGT	0.358000													22	60					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789597	8789597	+	Missense_Mutation	SNP	G	G	A	rs146444401		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8789597G>A	ENST00000447110.1	-	14	2201	c.2077C>T	c.(2077-2079)Cac>Tac	p.H693Y	PIK3R5_ENST00000581552.1_Missense_Mutation_p.H693Y|PIK3R5_ENST00000584803.1_Missense_Mutation_p.H692Y	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	693	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TCCAAGGAGTGGATGAAGATC	0.607000													14	45					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425722	75425722	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:75425722G>A	ENST00000305249.4	-	1	1104	c.339C>T	c.(337-339)atC>atT	p.I113I	TACR1_ENST00000409848.3_Silent_p.I113I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	113					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGACAGCGGCGATGGGAAAGA	0.498000													8	172					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99451935	99451935	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:99451935C>T	ENST00000268035.6	+	6	1880	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	IGF1R_ENST00000558762.1_Silent_p.L423L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	423					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTACGTCCTCGACAACCAGA	0.502000													16	30					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217156	150217156	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150217156G>A	ENST00000313543.4	+	2	251	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	32							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGAGAGGAAATCTTTGA	0.507000													16	76					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648291	57648291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57648291C>T	ENST00000269834.1	-	4	576	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGCTCCTTTCCTTGTTCCAA	0.522000													53	116					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118814691	118814691	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:118814691G>A	ENST00000509514.1	+	0	344				HSD17B4_ENST00000510025.1_Silent_p.R175R|HSD17B4_ENST00000504811.1_Silent_p.R224R|HSD17B4_ENST00000515320.1_Silent_p.R181R|HSD17B4_ENST00000414835.2_Silent_p.R59R|HSD17B4_ENST00000513628.1_Silent_p.R62R|HSD17B4_ENST00000256216.6_Silent_p.R199R			P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CGGGATCACGGATGACTCAGA	0.403000													11	169					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80663926	80663926	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80663926C>T	ENST00000458043.2	+	22	2489	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	OTOGL_ENST00000547103.1_Missense_Mutation_p.P828L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTAGCAACGCCCTCTGCTGGT	0.383000											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	14	25					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38490298	38490298	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38490298C>T	ENST00000263409.4	-	15	2323	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	LIFR_ENST00000453190.2_Missense_Mutation_p.E721K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	721					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCCAATTCTTCTATATAT	0.299000			T	PLAG1	salivary adenoma								36	165					0	0	1	0	0
PQBP1	10084	broad.mit.edu	37	X	48755850	48755850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48755850C>T	ENST00000218224.4	+	1	312	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	PQBP1_ENST00000447146.2_Silent_p.L20L|PQBP1_ENST00000376548.5_Silent_p.L20L|PQBP1_ENST00000396763.1_Silent_p.L20L|PQBP1_ENST00000376563.1_Silent_p.L20L|PQBP1_ENST00000247140.4_Silent_p.L20L|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376566.4_Silent_p.L20L	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CCTCAAACATCTGGAGCCTGG	0.542000													22	16					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545918	112545918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:112545918C>T	ENST00000488794.1	-	6	1127	c.538G>A	c.(538-540)Gag>Aag	p.E180K	CD200R1L_ENST00000448932.1_Missense_Mutation_p.E180K|CD200R1L_ENST00000398214.1_Missense_Mutation_p.E201K			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	201	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTGTGGCCCTCCCAGGGGCAT	0.507000													35	58					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611420	17611420	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:17611420A>G	ENST00000381869.3	-	2	2370	c.1897T>C	c.(1897-1899)Ttg>Ctg	p.L633L	MTUS1_ENST00000381862.3_Silent_p.L633L|MTUS1_ENST00000262102.6_Silent_p.L633L|MTUS1_ENST00000519263.1_Silent_p.L633L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	633						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTGAAACAACGCAGAAACG	0.438000													8	133					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859554	189859554	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:189859554A>T	ENST00000304636.3	+	20	1622	c.1452A>T	c.(1450-1452)gaA>gaT	p.E484D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E484D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	484	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)	CTGCAGGAGAAAGGGTACGTT	0.473000													6	116					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918668	112918668	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:112918668C>T	ENST00000374530.3	+	9	3245	c.3065C>T	c.(3064-3066)gCc>gTc	p.A1022V	AKAP2_ENST00000555236.1_Missense_Mutation_p.A1022V|AKAP2_ENST00000510514.5_Missense_Mutation_p.A1022V|AKAP2_ENST00000259318.7_Missense_Mutation_p.A791V|AKAP2_ENST00000374525.1_Missense_Mutation_p.A880V|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.A880V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A1022V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		791							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTGACTTAGCCCCTGAAGAG	0.507000													45	70					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109995	95109995	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95109995C>T	ENST00000469935.1	+	0	1032					NR_015340.1																						TTCATCTTCCCCAACAGGGGC	0.582000													14	28					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450883	138450883	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:138450883C>T	ENST00000344876.4	-	1	2746	c.2360G>A	c.(2359-2361)aGa>aAa	p.R787K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000507846.1_Missense_Mutation_p.R567K|PCDH18_ENST00000412923.2_Missense_Mutation_p.R787K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	787					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)					CATCTGCCCTCTTTCTAAGGT	0.473000													28	51					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57760012	57760012	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:57760012G>A	ENST00000360716.3	+	14	2012	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	CCDC135_ENST00000336825.8_Silent_p.A532A|CCDC135_ENST00000394337.4_Silent_p.A597A			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	597						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCAACCCAGCGAAGCCCGCGG	0.602000													5	28					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827327	96827327	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:96827327C>T	ENST00000371270.3	-	2	384	c.290G>A	c.(289-291)aGa>aAa	p.R97K	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	97					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGAATTGCCTCTTCCAGAAAA	0.443000													8	179					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184909	118184909	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:118184909C>T	ENST00000427715.2	+	11	1386	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	SLC30A8_ENST00000456015.2_Missense_Mutation_p.P367S|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P318S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P318S	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	367					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTGTGAAGACCCCTGTGACTA	0.463000													40	99					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338584	122338584	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122338584T>C	ENST00000340112.2	-	1	626	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	130	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGAACGTTATAGATGATCAC	0.448000													78	183					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125132016	125132016	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:125132016C>T	ENST00000522917.1	+	41	5765	c.5559C>T	c.(5557-5559)atC>atT	p.I1853I	FER1L6_ENST00000399018.1_Silent_p.I1853I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1853						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCGAAGGATCGTTGTGGGCT	0.458000													79	151					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348184	7348184	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:7348184G>A	ENST00000486284.1	+	4	1152		c.e4-1		GRM7_ENST00000389336.4_Splice_Site|GRM7_ENST00000402647.2_Splice_Site|GRM7_ENST00000403881.1_Splice_Site|GRM7_ENST00000357716.4_Splice_Site	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCTTTCCACAGGCAGATCCTT	0.433000													33	108					0	0	1	0	0
GUCY1B2	2974	broad.mit.edu	37	13	51584228	51584228	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:51584228G>A	ENST00000493639.2	-	0	1864					NR_003923.2																						GTGGGACTGAGGTGCACTTTG	0.493000													4	13					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46586728	46586728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:46586728C>T	ENST00000395905.3	-	3	533	c.141G>A	c.(139-141)tgG>tgA	p.W47*	LRRC2_ENST00000296144.3_Nonsense_Mutation_p.W47*|LRRC2_ENST00000496388.1_5'UTR	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	47										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CCACAAAGTTCCACTCCTCCT	0.537000													22	41					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145662280	145662280	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145662280G>A	ENST00000409379.3	-	15	1779	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	584					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCGGCCCCGTGGTCCAGCAGG	0.652000													11	141					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192028	62192028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:62192028G>A	ENST00000467148.1	-	16	7373	c.7304C>T	c.(7303-7305)cCc>cTc	p.P2435L	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1866L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGCCACAGAGGGGAAGGCACA	0.672000													30	99					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944827	43944827	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43944827G>A	ENST00000343694.3	+	10	1093	c.1020_splice	c.e10-1	p.A341_splice	RBPJL_ENST00000372743.1_Splice_Site_p.A341_splice|RBPJL_ENST00000372741.3_Splice_Site_p.A341_splice|RBPJL_ENST00000464504.1_Intron	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	341					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCCTCCCAGGCCTCTCCCTG	0.617000													7	125					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296129	153296129	+	Missense_Mutation	SNP	G	G	A	rs61752378		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153296129G>A	ENST00000303391.6	-	4	1399	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	MECP2_ENST00000453960.2_Missense_Mutation_p.P396S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	384	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGGGGTGGGAGCAGTGGC	0.682000													8	43					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54969458	54969458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:54969458G>A	ENST00000316881.4	-	9	1545	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	TRIM25_ENST00000537230.1_Missense_Mutation_p.S499F	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	499	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAGCACCTGAGAGCAGTATGT	0.557000													6	240					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15634299	15634299	+	Missense_Mutation	SNP	G	G	A	rs34933317		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:15634299G>A	ENST00000378076.3	-	22	2569	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	739					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCAGGGAATACTAAAA	0.378000													14	34					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486291	65486291	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:65486291C>T	ENST00000519389.1	+	21	3595	c.3416C>T	c.(3415-3417)cCc>cTc	p.P1139L	HEPH_ENST00000441993.2_Missense_Mutation_p.P1087L|HEPH_ENST00000374727.3_Missense_Mutation_p.P1088L|HEPH_ENST00000336279.5_Missense_Mutation_p.P818L|HEPH_ENST00000343002.2_Missense_Mutation_p.P1085L|HEPH_ENST00000419594.1_Missense_Mutation_p.P896L			Q9BQS7	HEPH_HUMAN	hephaestin	1085					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCAGTGCCCCCCAGAGACATT	0.443000													3	33					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395855	54395855	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:54395855C>T	ENST00000263431.3	+	7	1061	c.779C>T	c.(778-780)tCc>tTc	p.S260F	PRKCG_ENST00000542049.1_Missense_Mutation_p.S147F|PRKCG_ENST00000540413.1_Missense_Mutation_p.S260F|PRKCG_ENST00000536044.1_Missense_Mutation_p.S260F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGGCCATGTCCTTTGGCGTC	0.642000													14	38					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355407	10355407	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10355407G>A	ENST00000255381.2	-	27	3699	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1197					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TGCTTCTTCCGAAGAGCAGCT	0.552000													51	99					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724345	112724345	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:112724345C>G	ENST00000501255.2	-	3	1055	c.432G>C	c.(430-432)atG>atC	p.M144I	GPR85_ENST00000297146.2_Missense_Mutation_p.M144I|GPR85_ENST00000449591.1_Missense_Mutation_p.M144I|GPR85_ENST00000424100.1_Missense_Mutation_p.M144I	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	144						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GAGTCCACACCATACAGATCA	0.498000													18	153					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171488198	171488198	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:171488198C>T	ENST00000176763.5	-	14	2500	c.2157G>A	c.(2155-2157)cgG>cgA	p.R719R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	719							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGATCTCCCGCCTGTTGT	0.617000													18	305					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36244917	36244917	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:36244917G>A	ENST00000258840.6	-	2	531	c.141C>T	c.(139-141)ttC>ttT	p.F47F	RALGAPA1_ENST00000389698.3_Silent_p.F47F|RALGAPA1_ENST00000382366.3_Silent_p.F47F|RALGAPA1_ENST00000307138.6_Silent_p.F47F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	47					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATGTTGGTCGAAAAACTGTT	0.264000													19	48					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63981877	63981877	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:63981877G>A	ENST00000443617.2	-	33	6046	c.5959C>T	c.(5959-5961)Ctt>Ttt	p.L1987F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1987					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCAGAGAGAAGGGAAAATAAG	0.313000													12	9					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148700009	148700009	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:148700009C>T	ENST00000296721.4	+	14	1779	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P561S	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	561							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGATGTTCCTTATGAAAA	0.463000													12	78					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684611	33684611	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:33684611C>T	ENST00000346562.2	+	2	348	c.274C>T	c.(274-276)Cca>Tca	p.P92S	NPAS3_ENST00000548645.1_Missense_Mutation_p.P92S|NPAS3_ENST00000357798.5_Missense_Mutation_p.P92S|NPAS3_ENST00000547068.1_Missense_Mutation_p.P20S|NPAS3_ENST00000551492.1_Missense_Mutation_p.P129S|NPAS3_ENST00000341321.4_Missense_Mutation_p.P122S|NPAS3_ENST00000356141.4_Missense_Mutation_p.P122S|NPAS3_ENST00000551008.1_Missense_Mutation_p.P20S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	122	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGAAGGCCCTCCACCTAACAC	0.443000													27	83					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604253	140604253	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140604253C>T	ENST00000239449.4	+	1	1176	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	PCDHB14_ENST00000515856.2_Silent_p.F239F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTTTTTTCCTGAAACCGA	0.443000													50	131					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793748	13793748	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13793748G>A	ENST00000265104.4	-	49	8204	c.8100C>T	c.(8098-8100)atC>atT	p.I2700I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2700	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAAAAACTGGATGTCCACGA	0.463000									Kartagener syndrome				66	60					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018662	58018662	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58018662C>T	ENST00000282292.4	+	4	1339	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	ZNF773_ENST00000598770.1_Missense_Mutation_p.S399F|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGTGAGAATTCCAGCCTTGTT	0.413000													42	131					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223161726	223161726	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:223161726G>A	ENST00000350526.4	-	2	428	c.292C>T	c.(292-294)Cct>Tct	p.P98S	PAX3_ENST00000392070.2_Missense_Mutation_p.P98S|PAX3_ENST00000344493.4_Missense_Mutation_p.P98S|PAX3_ENST00000409828.3_Missense_Mutation_p.P98S|PAX3_ENST00000409551.3_Missense_Mutation_p.P98S|PAX3_ENST00000392069.2_Missense_Mutation_p.P98S|PAX3_ENST00000258387.5_Missense_Mutation_p.P98S|PAX3_ENST00000336840.6_Missense_Mutation_p.P98S	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	98	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCACCAGGACGTATGGAG	0.692000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						14	34					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911426	38911426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:38911426C>T	ENST00000312150.4	-	1	158	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	33	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACAAGAATTTCCAGTACCAAA	0.547000													30	62					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	10	120877128	120877128	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:120877128C>T	ENST00000361432.2	+	4	456	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Missense_Mutation_p.L144F|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	144										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CGGCTCTTTCCTTAGTAAGGA	0.478000													55	104					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153982545	153982545	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:153982545C>T	ENST00000368559.3	-	35	4904	c.4833G>A	c.(4831-4833)gcG>gcA	p.A1611A	NUP210L_ENST00000368553.1_Silent_p.A544A|NUP210L_ENST00000271854.3_Silent_p.A1611A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1611						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCATGAGGGTCGCTGGAAGAA	0.413000													77	89					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5998510	5998510	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:5998510C>T	ENST00000574946.1	+	5	1206	c.816C>T	c.(814-816)acC>acT	p.T272T	WSCD1_ENST00000574232.1_Silent_p.T272T|WSCD1_ENST00000573634.1_Silent_p.T156T|WSCD1_ENST00000317744.5_Silent_p.T272T|WSCD1_ENST00000539421.1_Silent_p.T272T			Q658N2	WSCD1_HUMAN	WSC domain containing 1	272	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCAATGTGACCGTGGGGACTT	0.562000													39	102					0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452420	76452420	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:76452420C>T	ENST00000311638.3	+	5	733	c.665C>T	c.(664-666)tCa>tTa	p.S222L	THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.S180L|THAP6_ENST00000514480.1_Missense_Mutation_p.S222L|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	222						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GACTATATTTCATGAAATAAT	0.323000													33	95					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44425655	44425655	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:44425655G>A	ENST00000355451.6	-	6	1320	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	347										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TGGCAGGGTCGAATCGCTGGC	0.532000													11	105					0	0	1	0	0
PRG2	5553	broad.mit.edu	37	11	57155272	57155272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57155272G>A	ENST00000311862.5	-	5	638	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	PRG2_ENST00000525955.1_Nonsense_Mutation_p.Q189*|PRG2_ENST00000533605.1_Nonsense_Mutation_p.Q178*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCAGGGCTGGTGAGCAGCC	0.632000													8	11					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582805	180582805	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180582805C>T	ENST00000328275.1	+	1	863	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCTCAACCCCCTCATTTAC	0.602000													26	64					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060631	167060631	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167060631C>T	ENST00000303354.6	-	26	4951	c.4611G>A	c.(4609-4611)aaG>aaA	p.K1537K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.K1525K|SCN9A_ENST00000409435.1_Silent_p.K1536K|SCN9A_ENST00000375387.4_Silent_p.K1537K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1536						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTGACCCTCCTTTTCTACCA	0.348000													22	56					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393679	10393679	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10393679G>A	ENST00000347364.2	-	3	1246	c.484C>T	c.(484-486)Cct>Tct	p.P162S		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	162					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATACAGGCAGGTTTACTTGTT	0.433000													5	105					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754129	140754129	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140754129C>T	ENST00000517434.1	+	1	479	c.479C>T	c.(478-480)cCt>cTt	p.P160L	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTATGACCCTGATGTGGGA	0.473000													29	41					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861521	42861521	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:42861521C>T	ENST00000398585.3	-	4	410		c.e4-1		TMPRSS2_ENST00000458356.1_Splice_Site|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Splice_Site	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2						proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTCTTAGTCTCTGGAAGAAGG	0.468000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								13	36					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923796	43923796	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43923796C>T	ENST00000329196.5	+	1	1541	c.1524C>T	c.(1522-1524)acC>acT	p.T508T	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	508						integral to membrane	aspartic-type endopeptidase activity										TGTCCAGCACCCTGCTCACCA	0.627000													39	144					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594114	179594114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179594114G>A	ENST00000589042.1	-	64	18993	c.18769C>T	c.(18769-18771)Cat>Tat	p.H6257Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.H5940Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H5013Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5940	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTATATGGAGGTTAAAC	0.468000													72	93					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158225110C>G	ENST00000289429.5	+	2	828	c.295C>G	c.(295-297)Cgt>Ggt	p.R99G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	99					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000													16	54					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101074874	101074874	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:101074874C>T	ENST00000360863.6	-	9	1653	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RGS22_ENST00000523437.1_Missense_Mutation_p.E475K|RGS22_ENST00000523287.1_Missense_Mutation_p.E306K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	487					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAATGCTCTTCATTCCACTGT	0.323000													19	37					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121706234	121706234	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:121706234C>T	ENST00000264808.3	-	11	1441	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	PRDM5_ENST00000515109.1_Missense_Mutation_p.E370K|PRDM5_ENST00000428209.2_Missense_Mutation_p.E370K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	401					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACGGTCTCTCCTCAGAGTGG	0.443000													25	52					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3458670	3458670	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:3458670C>T	ENST00000268655.4	+	3	1560	c.975C>T	c.(973-975)ccC>ccT	p.P325P	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Silent_p.P325P	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	325					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CAAAGAAACCCTACAAATGTG	0.502000													32	50					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317158	203317158	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:203317158C>T	ENST00000354955.4	-	2	704	c.241G>A	c.(241-243)Gac>Aac	p.D81N	FMOD_ENST00000464898.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	81	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTGGGCAGTCGCACTCCTGG	0.592000													25	31					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71170819	71170819	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:71170819C>T	ENST00000234396.4	+	2	223	c.150C>T	c.(148-150)ccC>ccT	p.P50P	ATP6V1B1_ENST00000412314.1_Silent_p.P50P|AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000422761.1_RNA|AC007040.7_ENST00000447639.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	50					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TGAACGGGCCCCTGGTGGTGC	0.632000													26	63					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235652501	235652501	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:235652501G>A	ENST00000366600.3	-	3	561	c.333C>T	c.(331-333)tcC>tcT	p.S111S	B3GALNT2_ENST00000478199.1_Intron|B3GALNT2_ENST00000313984.3_Silent_p.S152S	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	111					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAGTTTACAGGAATAAGGAT	0.408000													39	99					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584992	179584992	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179584992C>T	ENST00000589042.1	-	81	23602		c.e81-1		TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			CGTGGAGGTTCTGATGAAAGA	0.428000													35	61					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25287530	25287530	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:25287530A>T	ENST00000339157.5	-	10	1161	c.889T>A	c.(889-891)Ttt>Att	p.F297I	ABHD12_ENST00000376542.3_Missense_Mutation_p.F297I|ABHD12_ENST00000481556.1_5'UTR	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	297						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AACCAGTCAAACCCAGGGAAG	0.383000													15	50					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618237	77618237	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:77618237G>A	ENST00000521891.2	+	2	2362	c.1914G>A	c.(1912-1914)agG>agA	p.R638R	ZFHX4_ENST00000455469.2_Silent_p.R638R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.R638R|ZFHX4_ENST00000518282.1_Silent_p.R638R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	638						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCACTCGAGGAACTCATGCA	0.522000										HNSCC(33;0.089)			34	52					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381063	102381063	+	RNA	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:102381063T>G	ENST00000419462.1	+	0	475					NR_002182.1																						CCGGCTTCCTTCTGCAACAGA	0.468000													7	13					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793024	102793024	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:102793024C>T	ENST00000410023.1	+	12	1833	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IL1R1_ENST00000409929.1_Silent_p.F474F|IL1R1_ENST00000233946.3_Silent_p.F505F|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	505	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CGATTAAATTCATTAAGCAGA	0.438000													18	50					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109181999	109181999	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109181999G>A	ENST00000326495.5	-	15	3008	c.2915C>T	c.(2914-2916)cCa>cTa	p.P972L	SSH1_ENST00000360239.3_Missense_Mutation_p.P660L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	972	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCTTCAGTGGGGAAGAGAC	0.632000													19	393					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770426	35770426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:35770426C>T	ENST00000540320.1	+	31	5887	c.5353C>T	c.(5353-5355)Cat>Tat	p.H1785Y	NBEA_ENST00000310336.4_Missense_Mutation_p.H1785Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H1782Y|NBEA_ENST00000400445.3_Missense_Mutation_p.H1785Y			Q8NFP9	NBEA_HUMAN	neurobeachin	1785						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATGCAGTTTCATTCCTTTGA	0.373000													22	40					0	0	1	0	0
GNG7	2788	broad.mit.edu	37	19	2515077	2515077	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:2515077G>A	ENST00000382159.3	-	5	347	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	50					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGACTCCGACCAGCAGGG	0.502000													53	103					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793021	53793021	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53793021G>A	ENST00000426466.1	-	1	1854	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	203					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGTCCACAAGGAATAAAAACA	0.438000													57	95					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142709	5142709	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:5142709G>A	ENST00000498233.1	-	0	689																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCACAGAATGGAATCCCAATC	0.418000													10	129					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55145689	55145689	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:55145689C>T	ENST00000414150.2	+	13	2630	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	MROH7_ENST00000545244.1_Silent_p.A352A|MROH7_ENST00000421030.2_Silent_p.A784A|MROH7_ENST00000454855.2_Silent_p.A302A|MROH7_ENST00000339553.5_Silent_p.A784A|MROH7_ENST00000409996.1_Silent_p.A352A|MROH7_ENST00000395690.2_Silent_p.A784A					maestro heat-like repeat family member 7																		TTGTGGTGGCCCTGCTCATGT	0.642000													73	196					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142989531	142989531	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142989531C>T	ENST00000310447.5	+	3	605	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F	CASP2_ENST00000392925.2_Missense_Mutation_p.L122F|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	122					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GCTCACCACCCTTTCTGGGCT	0.498000													15	223					0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177422891	177422891	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:177422891C>G	ENST00000308304.2	-	1	352	c.44G>C	c.(43-45)gGg>gCg	p.G15A		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	15					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTCGCCCCTTCTTTGG	0.627000													39	72					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674288	43674288	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:43674288G>A	ENST00000599812.1	-	6	1341	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	PSG5_ENST00000407568.1_Missense_Mutation_p.P145S|PSG5_ENST00000366175.3_Missense_Mutation_p.P323S|PSG5_ENST00000407356.1_Missense_Mutation_p.P323S|PSG5_ENST00000342951.6_Missense_Mutation_p.P323S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	323					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATTCCTGAAGGAGCTGTCATG	0.428000													67	93					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15679377	15679377	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:15679377G>A	ENST00000281513.5	-	7	508	c.483C>T	c.(481-483)ctC>ctT	p.L161L	NBAS_ENST00000441750.1_Silent_p.L161L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	161								p.L161L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACTTCCCATGAGATCAAACA	0.428000													37	73					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917359	26917359	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:26917359A>T	ENST00000539517.2	-	5	1647	c.1330T>A	c.(1330-1332)Tta>Ata	p.L444I	NOVA1_ENST00000267422.7_Missense_Mutation_p.L322I|NOVA1_ENST00000465357.2_Missense_Mutation_p.L420I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	447	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATTCCACTAATGTTTTCCCT	0.433000													29	37					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904630	31904630	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:31904630G>A	ENST00000396184.3	-	8	880	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PDE1C_ENST00000396193.1_Missense_Mutation_p.P286S|PDE1C_ENST00000321453.7_Missense_Mutation_p.P226S|PDE1C_ENST00000396191.1_Missense_Mutation_p.P226S|PDE1C_ENST00000396182.2_Missense_Mutation_p.P226S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	226	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATGGTAAGGATTTTTGTGC	0.448000													29	70					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99393696	99393696	+	Missense_Mutation	SNP	C	C	T	rs147530137		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:99393696C>T	ENST00000305798.3	-	8	1186	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	TSPAN5_ENST00000505184.1_Missense_Mutation_p.E191K	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	262						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CTGACAGCTTCGATATCGCTA	0.532000													37	74					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705140	2705140	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:2705140C>T	ENST00000399655.1	+	20	3029	c.2764C>T	c.(2764-2766)Ccg>Tcg	p.P922S	CACNA1C_ENST00000399644.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P947S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P922S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P922S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P922S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	922					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGAGGACCCGGTCCAGCA	0.567000													24	52					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798212	38798212	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38798212C>T	ENST00000449082.2	-	9	1242	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	415					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AACTTCTTCTCCTTTGCTTCA	0.507000													8	229					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43536067	43536067	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43536067G>A	ENST00000400427.1	+	13	3011	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q	UMODL1_ENST00000408910.2_Missense_Mutation_p.R816Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.R944Q|UMODL1_ENST00000400424.1_Missense_Mutation_p.R744Q	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	816	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGAGTATCGAGATTTCCTA	0.463000													26	53					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113317046	113317046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113317046C>T	ENST00000263331.5	+	9	2087	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	POLR1B_ENST00000541869.1_Missense_Mutation_p.P541S|POLR1B_ENST00000417433.2_Missense_Mutation_p.P447S|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Missense_Mutation_p.P292S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	503					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGTGCATACCCCAGACGGGGA	0.562000													10	156					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100203628	100203628	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100203628C>T	ENST00000209668.2	-	6	816	c.703G>A	c.(703-705)Gag>Aag	p.E235K	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	235					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCACCCAACTCTTTGGCCTTT	0.488000													167	423					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192703	34192703	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34192703G>A	ENST00000297161.2	+	16	2250		c.e16-1		BMPER_ENST00000426693.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCTTTTTCAGCCACCCAGTG	0.498000													91	119					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026036	129026036	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:129026036G>A	ENST00000259241.6	-	2	949	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	312					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGGCCGGATGAACTTGAGGT	0.612000													25	28					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391465	1391465	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:1391465C>T	ENST00000324385.5	+	8	969	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	BAIAP3_ENST00000568887.1_Missense_Mutation_p.P208S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.P213S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P253S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P236S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P236S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P253S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	271	C2 1.				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)				CACCCTGAACCCCGTCTGGAA	0.677000													26	141					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704225	60704225	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:60704225C>T	ENST00000005286.4	+	11	3074	c.2921C>T	c.(2920-2922)cCa>cTa	p.P974L	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P973L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	973	Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAGCCCCTCCAGCCCAGTCA	0.662000													25	42					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53997348	53997348	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:53997348G>A	ENST00000396328.1	-	11	1424	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	WDR72_ENST00000557913.1_Silent_p.F392F|WDR72_ENST00000559418.1_Silent_p.F405F|WDR72_ENST00000360509.5_Silent_p.F395F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	395										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAAGCCCAGAGAAATAGTCAA	0.368000													35	88					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147120153	147120153	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:147120153C>T	ENST00000369238.5	-	9	1485	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	346					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGTCAAAAATCCCCAGGGTCA	0.488000													30	132					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239680	146239680	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:146239680G>A	ENST00000342435.4	-	6	926	c.516C>T	c.(514-516)gtC>gtT	p.V172V	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Silent_p.V165V|PLSCR1_ENST00000448787.2_Silent_p.V91V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	172					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CCAGAGTTATGACTTCTTGAC	0.433000													28	66					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044108	2044108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2044108G>A	ENST00000262113.4	+	18	2288	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	MYOM2_ENST00000523438.1_Missense_Mutation_p.G141E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	716	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATCCTTATGGGATTACGCTC	0.617000													95	145					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113970	117113970	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117113970G>A	ENST00000310357.3	-	6	2137	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L635F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L531F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	706					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGATAATAAGGATCGGTCTA	0.438000													20	56					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259936	71259936	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:71259936C>T	ENST00000528743.2	+	1	471	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	78	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGTGGCTGCTCCCAGTGCAGT	0.627000													122	225					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398041	37398041	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37398041G>A	ENST00000405091.2	-	4	577	c.326C>T	c.(325-327)tCg>tTg	p.S109L	TEX33_ENST00000402860.3_Missense_Mutation_p.S24L|TEX33_ENST00000381821.1_Missense_Mutation_p.S109L			O43247	EAN57_HUMAN	testis expressed 33	109																	CCCCTCTCCCGAGGTGGCCCT	0.642000													16	24					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53113997	53113997	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:53113997C>T	ENST00000375442.4	+	3	1078	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	316					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CCAGACTAACCCCTACTTCAC	0.522000													33	7					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124693509	124693509	+	Missense_Mutation	SNP	G	G	A	rs143112749	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:124693509G>A	ENST00000262219.6	-	12	1112	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	ANXA13_ENST00000419625.1_Missense_Mutation_p.R308W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	308					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCAGTTTCCGGAAGTCCCCG	0.498000													154	309					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31421459	31421459	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:31421459G>A	ENST00000511367.2	-	29	3689	c.3445C>T	c.(3445-3447)Cta>Tta	p.L1149L	DROSHA_ENST00000442743.1_Silent_p.L1112L|DROSHA_ENST00000344624.3_Silent_p.L1149L|DROSHA_ENST00000513349.1_Silent_p.L1112L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1149	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAGTCACCTAGGAATTCCATT	0.353000													13	192					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522408	31522408	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:31522408G>A	ENST00000331075.5	+	3	1367	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	INPP5J_ENST00000412277.2_Missense_Mutation_p.D373N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D73N|INPP5J_ENST00000405300.1_Missense_Mutation_p.D73N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D72N			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	440	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCCCCCAGACGATGTCACATC	0.627000													10	249					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141764305	141764305	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:141764305G>A	ENST00000475668.2	+	37	4521	c.4467G>A	c.(4465-4467)caG>caA	p.Q1489Q	MGAM_ENST00000549489.2_Silent_p.Q1489Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1489	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTGGTCCCAGACCAGACCCA	0.542000													7	9					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130399853	130399853	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:130399853G>A	ENST00000356763.3	-	18	4322	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1255					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTTAGTAGGATAGGATTTC	0.363000													22	60					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506474	107506474	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:107506474G>A	ENST00000265840.7	+	6	668	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ELMOD1_ENST00000531234.1_Missense_Mutation_p.E129K|ELMOD1_ENST00000443271.2_Missense_Mutation_p.E135K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	135	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TCCCCAACATGAAGAAATGCT	0.463000													14	12					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107601761	107601761	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:107601761G>A	ENST00000393561.1	-	15	2255	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	LAMB1_ENST00000393560.1_Missense_Mutation_p.P667S|LAMB1_ENST00000222399.6_Missense_Mutation_p.P667S			P07942	LAMB1_HUMAN	laminin, beta 1	667	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGGCCGAGGAAGGACGACA	0.473000													29	94					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240205	237240205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:237240205C>T	ENST00000409907.3	-	18	2444	c.2170G>A	c.(2170-2172)Gtc>Atc	p.V724I	IQCA1_ENST00000309507.5_Missense_Mutation_p.V721I|IQCA1_ENST00000431676.2_Missense_Mutation_p.V683I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	724							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTGGTGAGGACTCCTCCATTG	0.488000													5	64					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121733191	121733191	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:121733191G>A	ENST00000393376.1	-	15	1772	c.1677C>T	c.(1675-1677)caC>caT	p.H559H	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.H559H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	559	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCACAAGAGGGTGCAATACAT	0.388000													63	55					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605761	142605761	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142605761G>A	ENST00000265310.1	-	15	2457	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	703	Involved in Ca(2+)-dependent inactivation (By similarity).				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)					TTTGACGAAGGATCTCCCAGC	0.552000													42	127					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108145493	108145493	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:108145493C>T	ENST00000374720.3	+	14	1969	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	SLC44A1_ENST00000343170.7_Silent_p.I366I|SLC44A1_ENST00000374723.1_Silent_p.I574I|SLC44A1_ENST00000374724.1_Silent_p.I574I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	574						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTCTGATCATCGTCTGCCTCT	0.443000													136	225					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903639	119903639	+	Silent	SNP	C	C	T	rs150517462		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:119903639C>T	ENST00000313400.4	-	4	1234	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.S378S|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	378						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTTCCCTGCCGATGTGCTGC	0.577000													21	60					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25253984	25253984	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25253984C>T	ENST00000264864.6	+	2	499	c.310C>T	c.(310-312)Cca>Tca	p.P104S	PI4K2B_ENST00000512921.1_Missense_Mutation_p.P8S	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	104						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CTTGGATGACCCAGAATTTGC	0.378000													34	98					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419169	123419169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123419169G>A	ENST00000360772.3	-	19	3524	c.3146C>T	c.(3145-3147)cCc>cTc	p.P1049L	MYLK_ENST00000346322.5_Missense_Mutation_p.P980L|MYLK_ENST00000475616.1_Missense_Mutation_p.P1049L|MYLK_ENST00000360304.3_Missense_Mutation_p.P1049L|MYLK_ENST00000359169.1_Missense_Mutation_p.P1049L			Q15746	MYLK_HUMAN	myosin light chain kinase	1049	6 X 12 AA approximate tandem repeats.			KPM -> EAH (in Ref. 1 and 7).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATTGCCCATGGGCTTCAGGGT	0.542000													117	281					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52531994	52531994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:52531994C>T	ENST00000261839.7	-	21	2800	c.2639G>A	c.(2638-2640)cGa>cAa	p.R880Q	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	880	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAGCACGAATCGTCGGATACT	0.438000													39	51					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671295	112671295	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112671295G>A	ENST00000441065.2	+	3	697	c.385G>A	c.(385-387)Gat>Aat	p.D129N	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	129	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTGACAAAAGATCCCAGGCT	0.557000													35	80					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32352058	32352058	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:32352058C>T	ENST00000315285.3	+	8	1265	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SPAST_ENST00000345662.1_Silent_p.L348L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	380	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTGTTACTCTTTGGTCCAC	0.358000													20	51					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1097356	1097356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1097356G>A	ENST00000441003.2	+	35	6799	c.6772G>A	c.(6772-6774)Ggc>Agc	p.G2258S	MUC2_ENST00000361558.6_Missense_Mutation_p.G396S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4620						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACACCAAGGGCCAGTGTGG	0.677000													23	23					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59430537	59430537	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:59430537G>A	ENST00000288235.4	-	27	3509	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1037					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCTGCTGGGGGAGGCCGACT	0.622000											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	143					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140744256	140744256	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:140744256G>A	ENST00000389328.4	-	22	3553	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S1073F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S1082F|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1082					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCCCACGAAGGAGACGGTGTC	0.657000													5	17					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564717	36564717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36564717C>T	ENST00000397799.1	-	4	789	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	COL8A2_ENST00000303143.4_Missense_Mutation_p.E189K|COL8A2_ENST00000481785.1_Missense_Mutation_p.E124K			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	189	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCTGGTTCCCCCTGGAAT	0.721000													3	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595841	179595841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179595841C>T	ENST00000589042.1	-	60	17775	c.17551G>A	c.(17551-17553)Gag>Aag	p.E5851K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5534K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4607K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5534	Ig-like 39.						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)			GCTGTAATCTCCTTAGTCCCT	0.418000													12	178					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785182	140785182	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:140785182C>T	ENST00000310546.2	+	2	980	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	79	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CACCGGCACCCCGTGGCCCAG	0.731000													5	11					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476857	110476857	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110476857G>A	ENST00000378402.5	+	49	7900	c.7796G>A	c.(7795-7797)aGa>aAa	p.R2599K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2599					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCCTATGACAGAAACATTTGT	0.438000										HNSCC(38;0.096)			37	68					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117746737	117746737	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:117746737G>A	ENST00000368508.3	-	1	281	c.83C>T	c.(82-84)aCa>aTa	p.T28I	ROS1_ENST00000368507.3_Missense_Mutation_p.T28I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	28					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTTAAAACTGTACACTGCAC	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								39	109					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124149510	124149510	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124149510G>A	ENST00000360013.3	+	16	2838	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	KALRN_ENST00000460856.1_Missense_Mutation_p.G904E|KALRN_ENST00000240874.3_Missense_Mutation_p.G904E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	904					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TAGGTTCTGGGATGGATCCGC	0.572000													27	50					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24431167	24431167	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:24431167G>A	ENST00000355123.4	-	37	5060	c.4617C>T	c.(4615-4617)atC>atT	p.I1539I	ITSN2_ENST00000361999.3_Silent_p.I1512I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1539	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCCGCCTTGATCTTCTGCA	0.632000													12	147					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542202	133542202	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:133542202C>T	ENST00000409261.1	-	14	2555	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D728N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	728							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAAGTATAGTCTCTTGCAGCA	0.418000													50	74					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015752	93015752	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:93015752G>A	ENST00000333334.2	+	1	869	c.374_splice	c.e1+1	p.R125_splice	C15orf32_ENST00000556865.1_Splice_Site_p.R125_splice	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	125										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTTGTCATAAGGTGAGCCTGC	0.502000													24	60					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133901836	133901836	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:133901836C>T	ENST00000395003.1	+	9	1179	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	PHF15_ENST00000361895.2_Missense_Mutation_p.H334Y|PHF15_ENST00000282605.4_Missense_Mutation_p.H334Y|PHF15_ENST00000402835.1_Missense_Mutation_p.H334Y	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		334					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAGCGTTCCATGTCACATG	0.562000													51	139					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979546	46979546	+	Silent	SNP	C	C	T	rs80176186		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:46979546C>T	ENST00000264318.3	-	4	1357	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCACACTTTCGTTACCATCA	0.353000													36	71					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42568962	42568962	+	Silent	SNP	C	C	T	rs149397146	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:42568962C>T	ENST00000433647.1	+	6	978	c.354C>T	c.(352-354)gtC>gtT	p.V118V	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Silent_p.V159V|VIPR1_ENST00000543411.1_Silent_p.V111V	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	159					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTTCTGGTCGCCACAGCTA	0.612000													40	70					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	406531	406531	+	Missense_Mutation	SNP	G	G	A	rs150864495		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:406531G>A	ENST00000431843.2	-	9	1193	c.887C>T	c.(886-888)tCc>tTc	p.S296F	SIGIRR_ENST00000531205.1_Missense_Mutation_p.S296F|SIGIRR_ENST00000332725.3_Missense_Mutation_p.S296F|SIGIRR_ENST00000382520.2_Missense_Mutation_p.S296F|SIGIRR_ENST00000397632.3_Missense_Mutation_p.S296F	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	296	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAATCGGAGGAAGGAGTCTG	0.657000													36	37					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58891656	58891656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:58891656C>T	ENST00000343597.3	+	4	277	c.86C>T	c.(85-87)aCt>aTt	p.T29I	FAM111B_ENST00000529618.1_5'UTR|FAM111B_ENST00000411426.1_5'UTR	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	29							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TTTAAGGATACTGTCATGAAG	0.308000													42	75					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160235842	160235842	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:160235842T>C	ENST00000264431.4	+	3	711	c.292T>C	c.(292-294)Tca>Cca	p.S98P	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	98					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGAGAGAGCATCAGATCCTCT	0.498000													28	64					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044043	74044043	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74044043C>T	ENST00000409561.1	+	3	2814	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	898										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAATACACCTCTTTGGGGAAA	0.443000													7	26					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733876	92733876	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92733876G>A	ENST00000379958.2	-	3	1804	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	512						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTGCCAGGAACTTGGATC	0.378000													76	190					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766789	57766789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57766789G>A	ENST00000371030.2	+	1	715	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	239						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGATGCACGAAGGCGCCTC	0.701000													31	74					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411597	126411597	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126411597G>A	ENST00000394329.3	+	17	13633	c.13620G>A	c.(13618-13620)gaG>gaA	p.E4540E	FAT4_ENST00000335110.5_Silent_p.E2781E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4540					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAAGAGGAGAAGAAACCGA	0.522000													8	103					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67986530	67986530	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67986530A>G	ENST00000262210.5	+	2	182	c.151A>G	c.(151-153)Aga>Gga	p.R51G	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	51						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)			GCAAAAAGCCAGATTGGCCGA	0.303000													51	104					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74010469	74010469	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:74010469A>C	ENST00000358602.4	-	11	2066	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ANKRD17_ENST00000509867.2_Missense_Mutation_p.I537M|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.I650M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	650					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTACTAATTAAGAACT	0.338000													13	37					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364606	142364606	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142364606G>A	ENST00000390397.2	+	0	277																											AGAGATCTCTGATGGATACAG	0.468000													25	76					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50566882	50566882	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:50566882G>A	ENST00000444124.2	-	8	1040	c.840C>T	c.(838-840)atC>atT	p.I280I	DDC_ENST00000426377.1_Silent_p.I202I|DDC_ENST00000380984.4_Silent_p.I280I|DDC_ENST00000357936.5_Silent_p.I280I|DDC_ENST00000431062.1_Silent_p.I187I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	280					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACTCAGGGCAGATGAATGCAC	0.517000													35	40					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141093214	141093214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141093214G>A	ENST00000389484.3	-	78	13057	c.12086C>T	c.(12085-12087)cCc>cTc	p.P4029L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4029					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)		AATAGCATAGGGTTCTCCAGC	0.393000										TSP Lung(27;0.18)			41	85					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010978	78010978	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:78010978C>T	ENST00000435339.2	+	2	1017	c.612C>T	c.(610-612)atC>atT	p.I204I	LPAR4_ENST00000373301.2_Silent_p.I204I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	204						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCAAGATCACAATATTTA	0.408000													36	18					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336442	141336442	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:141336442C>T	ENST00000231484.3	-	1	2185	c.975G>A	c.(973-975)agG>agA	p.R325R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	325	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCAGGTCCCTTGCCTGAA	0.522000													45	70					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175691	55175691	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55175691G>A	ENST00000391736.1	+	6	725	c.410G>A	c.(409-411)gGa>gAa	p.G137E	LILRB4_ENST00000391733.3_Missense_Mutation_p.G137E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G137E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G137E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G137E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	137	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCTCAGGAAAGAGCGTG	0.562000													49	141					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510053	55510053	+	Silent	SNP	C	C	T	rs61755583	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:55510053C>T	ENST00000395472.2	+	2	626	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SOCS4_ENST00000339298.2_Silent_p.A98A|SOCS4_ENST00000555846.1_Silent_p.A98A	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	98					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGCAAGATGCCGTGGGGCAGT	0.418000													47	102					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1685499	1685499	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1685499G>A	ENST00000344463.4	-	12	1748	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	NADK_ENST00000342348.5_Silent_p.V332V|NADK_ENST00000341426.5_Silent_p.V364V|NADK_ENST00000378625.1_Silent_p.V509V|NADK_ENST00000341991.3_Silent_p.V364V			O95544	NADK_HUMAN	NAD kinase	364					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCTTCAGCTCGACCCCTGCGG	0.632000													5	131					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963046	54963046	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:54963046C>T	ENST00000243052.3	+	4	742	c.306C>T	c.(304-306)gcC>gcT	p.A102A	PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Silent_p.A61A|PDE1B_ENST00000550620.1_Silent_p.A82A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	102					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ACTGGCTGGCCTCCACCTTCA	0.647000													43	92					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223010	67223010	+	Silent	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:67223010G>T	ENST00000314586.6	-	3	360	c.120C>A	c.(118-120)atC>atA	p.I40I	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	40	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCGGTAGAAGATGCCTGAGG	0.692000													9	14					3.09899e-07	3.11352e-07	1	1	0
C1orf141	400757	broad.mit.edu	37	1	67561996	67561996	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:67561996C>T	ENST00000371007.2	-	6	464	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	C1orf141_ENST00000371006.1_Missense_Mutation_p.E119K|C1orf141_ENST00000544837.1_Missense_Mutation_p.E119K	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	119										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GGTTTTTTTTCAATTTGAGCT	0.244000													7	25					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56208889	56208889	+	Missense_Mutation	SNP	C	C	T	rs144207188		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:56208889C>T	ENST00000285947.2	+	3	904	c.518C>T	c.(517-519)cCg>cTg	p.P173L	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.P173L	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	173																	ATTGGAAATCCGTTTATTTTT	0.348000													13	141					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105658307	105658307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:105658307G>A	ENST00000542731.1	+	12	1550	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.G481E|CDHR3_ENST00000478080.1_Missense_Mutation_p.G393E|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACCCGAGTGGGACAGGTGCGA	0.512000													9	17					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961414	34961414	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:34961414G>A	ENST00000329357.5	+	1	502	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	156										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGATCCCGAGAGGAAGCT	0.567000													41	13					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39343988	39343988	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:39343988G>A	ENST00000381897.1	-	4	441	c.308C>T	c.(307-309)cCt>cTt	p.P103L	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.P103L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	103					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTATGTAACAGGATCCTGCCG	0.403000													27	55					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130930	161130930	+	Missense_Mutation	SNP	C	C	A	rs140569144		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:161130930C>A	ENST00000368002.3	+	3	877	c.500C>A	c.(499-501)cCt>cAt	p.P167H	USP21_ENST00000289865.8_Missense_Mutation_p.P167H|USP21_ENST00000368001.1_Missense_Mutation_p.P167H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	167					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTGGACCCCCTACCCTGTTC	0.612000													25	89					9.86323e-18	9.95451e-18	1	1	0
OR56B4	196335	broad.mit.edu	37	11	6129452	6129452	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6129452C>T	ENST00000316529.3	+	1	539	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTGTCTTCAAAGCCACAG	0.498000													53	47					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229490	90229490	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90229490G>A	ENST00000390278.2	+	0	330																											GAAGCCTGAAGATTTTGCAGC	0.473000													30	67					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131343213	131343213	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131343213T>A	ENST00000358161.5	+	11	1449	c.1336T>A	c.(1336-1338)Tcc>Acc	p.S446T	SPTAN1_ENST00000372731.4_Missense_Mutation_p.S446T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S446T			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	446					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						GACCGTCCTTTCCGAGGAGAG	0.597000													31	81					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129547179	129547179	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129547179G>A	ENST00000393238.3	-	3	383	c.43C>T	c.(43-45)Cct>Tct	p.P15S	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	15						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TTGCCTCCAGGATCAGGGTCC	0.398000													9	175					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854447	18854447	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18854447G>A	ENST00000266505.7	-	9	1268	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	PLCZ1_ENST00000541695.1_Silent_p.F198F|PLCZ1_ENST00000538330.1_Silent_p.F117F|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Silent_p.F142F|PLCZ1_ENST00000447925.2_Silent_p.F333F|PLCZ1_ENST00000435379.1_Silent_p.F140F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	335					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTTTTTCTTGAAAAGCATTA	0.318000													36	68					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797571	127797571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:127797571C>T	ENST00000556132.1	-	6	2464	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SOGA3_ENST00000481848.2_Missense_Mutation_p.E534K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E534K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E534K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E534K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	534						integral to membrane											GCGGCTTCTTCCTTAACAAAC	0.403000													67	109					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39622094	39622094	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39622094C>T	ENST00000225899.3	-	3	742	c.639G>A	c.(637-639)aaG>aaA	p.K213K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	213	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.K213K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCAGGTCAGCCTTGCACAGAG	0.602000													35	98					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322118	79322118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79322118C>T	ENST00000428286.1	-	8	5195	c.3995G>A	c.(3994-3996)aGt>aAt	p.S1332N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1691N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1691					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCACCGACACTGTCATCATC	0.463000													30	41					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209177	140209177	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140209177G>A	ENST00000529310.1	+	1	1615	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E501K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTGGGCGAGCGCGCGTT	0.672000													38	85					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323143	79323143	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79323143C>T	ENST00000428286.1	-	8	4170	c.2970G>A	c.(2968-2970)gtG>gtA	p.V990V	PRUNE2_ENST00000376718.3_Silent_p.V1349V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1349					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGCATTCTCCACACCAGAGG	0.502000													4	102					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38278040	38278040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:38278040G>A	ENST00000553443.1	+	24	4558	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	TTC6_ENST00000476979.1_Missense_Mutation_p.E154K|TTC6_ENST00000382320.3_Missense_Mutation_p.E234K|TTC6_ENST00000267368.7_Missense_Mutation_p.E154K					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CAAGATAAGGGAACTTCAAAT	0.279000													47	122					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303491	6303491	+	Missense_Mutation	SNP	A	A	T	rs71532861		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:6303491A>T	ENST00000226760.1	+	8	2139	c.1969A>T	c.(1969-1971)Atg>Ttg	p.M657L	WFS1_ENST00000503569.1_Missense_Mutation_p.M657L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	657					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTCAGAGGGCATGAAGGTCTA	0.607000													8	317					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811524	38811524	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:38811524G>A	ENST00000310803.5	-	4	552	c.375C>T	c.(373-375)atC>atT	p.I125I	RASGRP1_ENST00000558164.1_Silent_p.I125I|RASGRP1_ENST00000559830.1_Silent_p.I125I|RASGRP1_ENST00000561180.1_Silent_p.I176I|RASGRP1_ENST00000450598.2_Silent_p.I125I|RASGRP1_ENST00000539159.1_Silent_p.I77I	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	125	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAAAATAACAGATCTTCAGGC	0.423000													32	76					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853460	12853460	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12853460G>A	ENST00000332296.7	+	2	187	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	28										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCATGGAGGAGCTGC	0.592000													87	173					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800027	74800027	+	Silent	SNP	G	G	A	rs61897539		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74800027G>A	ENST00000305159.3	-	1	772	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGCTGCAGGTGGAGAAGGCTT	0.562000													29	68					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540443	40540443	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40540443G>A	ENST00000434248.1	-	5	2388	c.2323C>T	c.(2323-2325)Cat>Tat	p.H775Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H627Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAATACTCTGA	0.418000													52	93					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384743	39384743	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39384743T>G	ENST00000289248.2	-	2	1150	c.142A>C	c.(142-144)Att>Ctt	p.I48L	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.I128L|RHBDL2_ENST00000372990.1_Missense_Mutation_p.I48L|RHBDL2_ENST00000540558.1_Missense_Mutation_p.I48L|RHBDL2_ENST00000538156.1_Missense_Mutation_p.I115L			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	48					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTGAGACAATCCTGTGGACC	0.507000													55	119					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492246	87492246	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:87492246G>A	ENST00000296595.6	-	12	1370	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000514135.1_Silent_p.L416L|TMEM161B_ENST00000511218.1_Silent_p.L207L|TMEM161B_ENST00000512429.1_Silent_p.L405L|TMEM161B_ENST00000506536.1_Silent_p.V201V	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	416						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTGGACAGTAGACTATTATCC	0.348000													5	98					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42873898	42873898	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:42873898C>T	ENST00000025301.2	+	8	1191	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	339					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCTAAAATTCCTGTGATGAAA	0.338000													33	61					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157519	26157519	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:26157519G>A	ENST00000325250.1	+	2	604	c.417G>A	c.(415-417)agG>agA	p.R139R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	139	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TTGTTATCAGGAAGGATAAGT	0.423000													5	4					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706414	96706414	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:96706414G>A	ENST00000389672.5	+	3	729	c.691G>A	c.(691-693)Gga>Aga	p.G231R	EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R|EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G137*(2)|p.G231*(1)		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						TGAGTCCCACGGAATTAAATT	0.398000													85	197					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077734	53077734	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:53077734C>T	ENST00000276480.7	-	12	1939	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	419						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)				ATGACCCCTTCCTGTGCATCC	0.408000													74	153					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49948157	49948157	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49948157G>A	ENST00000257981.6	+	11	2216	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	652					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCCCCGGCGGGAGCAGGTGG	0.637000													16	203					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995501	2995501	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:2995501G>A	ENST00000331459.1	-	1	789	c.790C>T	c.(790-792)Cat>Tat	p.H264Y		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	264					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GAGTAGGTATGGAGGGGCTTT	0.483000													36	84					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49443573	49443573	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49443573C>T	ENST00000301067.7	-	11	3797	c.3798G>A	c.(3796-3798)gaG>gaA	p.E1266E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGTCATCAGTCTCTGGCAGTG	0.627000													59	123					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595237	12595237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:12595237G>A	ENST00000378847.3	+	2	443	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Missense_Mutation_p.E36K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	36	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGCCTTTTCCGAAGTGGTTTT	0.468000													6	196					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43574213	43574213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:43574213G>A	ENST00000452443.2	-	9	1184	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	394					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACACAAAAGGGGTGTCATAG	0.582000													5	53					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3443759G>A	ENST00000602557.1	-	10	1679	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S375L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000													7	21					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914175	75914175	+	Silent	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:75914175A>T	ENST00000296641.4	-	2	560	c.357T>A	c.(355-357)ctT>ctA	p.L119L	IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L97L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	119					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TCCTGAAGAAAAGCATCCACA	0.458000													33	77					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153537696	153537696	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153537696G>A	ENST00000369915.3	+	3	441		c.e3-1		TKTL1_ENST00000369912.2_Splice_Site|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1						glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTCTTACAGAGACTGTCGT	0.557000													200	71					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79437144	79437144	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79437144G>A	ENST00000264895.6	+	66	10806	c.10366G>A	c.(10366-10368)Ggc>Agc	p.G3456S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3451					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGTCTGTGGGGGCTCTGTAAC	0.527000													17	25					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908016	103908016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:103908016G>A	ENST00000302259.3	+	1	709	c.466G>A	c.(466-468)Gat>Aat	p.D156N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	156					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAACCCCCACGATCTGTCCCT	0.637000													34	37					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103275927	103275927	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:103275927C>T	ENST00000428762.1	-	19	2569	c.2410G>A	c.(2410-2412)Ggg>Agg	p.G804R	RELN_ENST00000424685.2_Missense_Mutation_p.G804R|RELN_ENST00000343529.5_Missense_Mutation_p.G804R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	804					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGTTATCCCATTATCATAA	0.433000													40	179					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831533	49831533	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:49831533C>T	ENST00000527477.1	+	0	1758																											AGGGAAGAATCAGAATGGCAA	0.453000													28	58					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588567	153588567	+	Missense_Mutation	SNP	G	G	A	rs28935473		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:153588567G>A	ENST00000422373.1	-	22	3844	c.3596C>T	c.(3595-3597)tCg>tTg	p.S1199L	FLNA_ENST00000369850.3_Missense_Mutation_p.S1199L|FLNA_ENST00000360319.4_Missense_Mutation_p.S1199L|FLNA_ENST00000344736.4_Missense_Mutation_p.S1199L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1199			S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCGCCTCCGAGCAGATCTC	0.677000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	43					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151023850	151023850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:151023850C>T	ENST00000296550.7	+	2	1396	c.642C>T	c.(640-642)atC>atT	p.I214I	DCLK2_ENST00000506325.1_Silent_p.I214I|DCLK2_ENST00000302176.8_Silent_p.I214I	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	214	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCGTGCGGATCCTTCTGAATA	0.423000													25	35					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22078946	22078946	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:22078946G>A	ENST00000261200.4	-	3	335	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ABCC9_ENST00000538350.1_Silent_p.F112F|ABCC9_ENST00000261201.4_Silent_p.F112F|ABCC9_ENST00000345162.2_Silent_p.F112F|ABCC9_ENST00000326684.4_Silent_p.F112F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	112					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGTGGCAACGAATCCCATCA	0.408000													49	100					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451155	33451155	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33451155G>A	ENST00000336431.5	-	2	410	c.366C>T	c.(364-366)acC>acT	p.T122T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	122					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCAGCGCCACGGTGACACCGG	0.642000													19	39					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962236	10962236	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10962236G>A	ENST00000240691.2	-	1	531	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	147					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATTCTTTGGAACACTAATA	0.353000													30	46					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467706	33467706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:33467706G>A	ENST00000379471.2	-	12	1672	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	NOL6_ENST00000455041.2_Nonsense_Mutation_p.R477*|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	529					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTGGGGGTCGAGAGTGAGCC	0.617000													7	83					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11913768	11913768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:11913768C>T	ENST00000256720.2	+	5	712	c.619C>T	c.(619-621)Cca>Tca	p.P207S	LPIN1_ENST00000425416.2_Missense_Mutation_p.P213S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P213S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P213S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P256S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	207					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATATACCTCCATTCCAAGA	0.378000													39	103					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26135549	26135549	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:26135549C>T	ENST00000361547.2	+	6	835	c.780C>T	c.(778-780)caC>caT	p.H260H	SEPN1_ENST00000374315.1_Silent_p.H226H|SEPN1_ENST00000354177.4_Silent_p.H226H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	260						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGTTCCACCCTCGGCCCT	0.652000													10	222					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468740	86468740	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:86468740C>T	ENST00000361669.2	+	4	3009	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	GRM3_ENST00000546348.1_Missense_Mutation_p.S229L|GRM3_ENST00000536043.1_Missense_Mutation_p.S509L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	637					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCCAAGCCATCACCAGTCATC	0.522000													92	321					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112462620	112462620	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112462620G>A	ENST00000230538.7	-	21	3150	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	LAMA4_ENST00000389463.4_Missense_Mutation_p.P911L|LAMA4_ENST00000424408.2_Missense_Mutation_p.P911L|LAMA4_ENST00000522006.1_Missense_Mutation_p.P911L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	918	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGAGTCCAGGGGAATCTCCAC	0.408000													36	84					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088455	39088455	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:39088455G>A	ENST00000295373.6	-	5	1223	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	366							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGCTTGGTAGGGATATTTGTG	0.363000													27	45					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558079	159558079	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159558079G>A	ENST00000255040.2	+	2	350	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	85	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGTTTATAAAGAAAGAGTTGG	0.433000													41	139					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494892	160494892	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:160494892C>T	ENST00000356956.1	+	35	5199	c.5051C>T	c.(5050-5052)tCc>tTc	p.S1684F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1684					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GATGATGCCTCCGATACCAAC	0.483000													22	60					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111304183	111304183	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111304183C>T	ENST00000352690.4	+	5	1005	c.765C>T	c.(763-765)atC>atT	p.I255I	CD96_ENST00000283285.5_Silent_p.I271I|CD96_ENST00000438817.2_Silent_p.I255I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	271					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AACCAGAAATCCCTGTGATTG	0.403000									Opitz Trigonocephaly syndrome				15	52					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961604	26961604	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:26961604G>A	ENST00000528896.2	-	16	3075	c.3001C>T	c.(3001-3003)Ccc>Tcc	p.P1001S	KIAA0100_ENST00000544884.1_Missense_Mutation_p.P858S|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.P858S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1001						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCTCAGGGGGAAAAGGGCTG	0.498000													51	102					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920822	30920822	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30920822C>T	ENST00000462446.1	+	3	4138	c.4110C>T	c.(4108-4110)ggC>ggT	p.G1370G	DPCR1_ENST00000304311.2_Silent_p.G212G|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	494						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ATGAGGGTGGCCCCAATTCCT	0.567000													28	65					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248664	20248664	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:20248664C>T	ENST00000315957.4	+	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGTTGGCTA	0.393000													113	245					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851208	155851208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:155851208G>A	ENST00000368324.4	+	4	1458	c.1205G>A	c.(1204-1206)aGt>aAt	p.S402N	SYT11_ENST00000539162.1_Missense_Mutation_p.S95N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	402						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGGGCACACAGTGTCACAGCC	0.572000													43	283					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48680235	48680235	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48680235G>A	ENST00000544264.1	-	31	8784	c.8504C>T	c.(8503-8505)tCt>tTt	p.S2835F	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2830F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2830					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGCTCACAGAGGAGACGGT	0.652000													46	88					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316808	11316808	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:11316808C>T	ENST00000380712.3	+	6	395	c.327C>T	c.(325-327)atC>atT	p.I109I	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Silent_p.I95I|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.I79I	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	95					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AGCCCGTGATCCCCCAGCAAC	0.627000													69	138					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959222	10959222	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:10959222G>A	ENST00000240615.2	-	1	670	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	120					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCAGCCAGAGAAAAAGTGGA	0.428000													24	51					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687685	11687685	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:11687685C>T	ENST00000262442.3	+	41	7958	c.7890C>T	c.(7888-7890)atC>atT	p.I2630I	DNAH9_ENST00000454412.2_Silent_p.I2630I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2630	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGCATCATCCTCACTCAGC	0.542000													89	209					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129121422	129121422	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129121422C>T	ENST00000505956.1	-	8	1566	c.1403_splice	c.e8-1	p.K468_splice	EFCAB12_ENST00000326085.3_Splice_Site	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTGGCGTTTTCCTAGTGGAGA	0.498000													9	30					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772072	109772072	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109772072C>T	ENST00000369923.4	+	4	336	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	SARS_ENST00000234677.2_Missense_Mutation_p.L109F			P49591	SYSC_HUMAN	seryl-tRNA synthetase	109					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGTCCGACTCCTCATTGATGA	0.502000													118	273					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324651	31324651	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31324651G>A	ENST00000269197.5	+	12	4839	c.4839G>A	c.(4837-4839)ggG>ggA	p.G1613G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGATGATGGGATGAGGAGCA	0.463000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	14					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748950	36748950	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:36748950C>T	ENST00000379881.3	-	7	786	c.698G>A	c.(697-699)gGg>gAg	p.G233E	SOHLH2_ENST00000554962.1_Missense_Mutation_p.G310E|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.G310E	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATTCTTTCTCCCTTTTACATA	0.413000													25	73					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253852	183253852	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183253852G>A	ENST00000287713.6	-	6	856	c.522C>T	c.(520-522)acC>acT	p.T174T	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Silent_p.T169T	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	174					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CACCTACAAAGGTGAAACGCT	0.542000													85	90					0	0	1	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939679	26939679	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26939679G>A	ENST00000544033.1	+	0	5612					NR_026794.1																						ctgggcaacagaacaagggct	0.522000													6	19					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135714	19135714	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19135714G>A	ENST00000601879.1	-	3	1740	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	SUGP2_ENST00000600377.1_Silent_p.A495A|SUGP2_ENST00000337018.6_Silent_p.A481A|SUGP2_ENST00000456085.2_Silent_p.A250A|SUGP2_ENST00000452918.2_Silent_p.A481A			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	481					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCCCAAAAGGGCCAAAGACT	0.517000													107	162					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179052190	179052190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:179052190C>T	ENST00000326361.3	+	7	1883	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S	ZNF639_ENST00000496856.1_Missense_Mutation_p.P480S|ZNF639_ENST00000484866.1_Missense_Mutation_p.P480S	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	480					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAGTCACCTTCCAGTCCATGA	0.313000													22	46					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065045	23065045	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:23065045G>A	ENST00000246006.4	-	1	1932	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	595					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCCAGCAGGAGTAGGATGG	0.572000													98	188					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72008402	72008402	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:72008402C>T	ENST00000378743.3	-	30	5797	c.5439G>A	c.(5437-5439)gtG>gtA	p.V1813V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1813					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AACATCTATTCACTAAATCAG	0.343000													75	133					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926804	147926804	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147926804G>A	ENST00000361727.3	+	20	3830	c.3314G>A	c.(3313-3315)aGg>aAg	p.R1105K	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R164K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1105	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAGACCACAGGAACATGGCC	0.418000										HNSCC(39;0.1)			29	101					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134277994	134277994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:134277994C>T	ENST00000337090.3	+	14	1849	c.1676C>T	c.(1675-1677)cCa>cTa	p.P559L	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.P559L|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.P559L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	559					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCATCCAGGCCAACCCATGGC	0.378000													7	177					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38171377	38171377	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:38171377C>T	ENST00000379747.4	-	2	279	c.162G>A	c.(160-162)aaG>aaA	p.K54K	POSTN_ENST00000379749.4_Silent_p.K54K|POSTN_ENST00000541481.1_Silent_p.K54K|POSTN_ENST00000379743.4_Silent_p.K54K|POSTN_ENST00000541179.1_Silent_p.K54K|POSTN_ENST00000379742.4_Silent_p.K54K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	54	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAGTATTTCTTTTTGGTGC	0.353000													24	59					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872435	51872435	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:51872435C>T	ENST00000371497.5	+	2	3325	c.2438C>T	c.(2437-2439)tCc>tTc	p.S813F	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S810F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S810F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	813					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAGCCTCCTCCTCCAGGGTC	0.552000													40	103					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52540776	52540776	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52540776G>A	ENST00000321725.6	+	18	1975	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	633	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAATGGTGTGATCCACATGC	0.667000													25	75					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333124	33333124	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:33333124C>T	ENST00000023064.4	-	11	1365	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G392R|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G392R	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	392					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACGATGAGTCCTAGAATCGTC	0.428000													26	75					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75495781	75495781	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:75495781C>T	ENST00000228027.7	+	2	500	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DGAT2_ENST00000376262.3_Intron	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	80					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TCCTGTCCTTCCTTGTACTGG	0.582000													65	119					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849205	25849205	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:25849205C>T	ENST00000399878.3	-	2	566	c.444G>A	c.(442-444)gtG>gtA	p.V148V	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.V113V|SEL1L3_ENST00000502949.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	148						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTGGAAATTTCACATGTACTA	0.388000													28	47					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764602	33764602	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:33764602G>A	ENST00000216968.4	+	4	785	c.703G>A	c.(703-705)Gga>Aga	p.G235R	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	235					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GTGCACAGGTGGACGGCGATG	0.567000													6	43					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57771048	57771048	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:57771048T>G	ENST00000371030.2	+	2	3863	c.3863T>G	c.(3862-3864)aTc>aGc	p.I1288S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1288						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAACTGAAGATCAACCCTAAA	0.493000													63	136					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79945269	79945269	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:79945269G>A	ENST00000438737.2	-	5	885	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	RBM26_ENST00000267229.7_Missense_Mutation_p.R149C|RBM26_ENST00000438724.1_Missense_Mutation_p.R149C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	149	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCGAGAACGATCATCTTTT	0.383000													6	78					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691829	46691829	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:46691829C>T	ENST00000239144.4	-	1	472	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	HOXB8_ENST00000576562.1_Missense_Mutation_p.G80R|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CCGGGGTCCCCGTGGCACGCC	0.647000													32	81					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62467434	62467434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:62467434G>A	ENST00000383710.4	-	22	3486	c.3137C>T	c.(3136-3138)tCg>tTg	p.S1046L	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1046	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACGGTGCCGAAAAAGTAGG	0.413000													63	110					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517753	195517753	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:195517753C>T	ENST00000463781.3	-	2	1157	c.698G>A	c.(697-699)gGg>gAg	p.G233E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G233E|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	238					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAACAGTCCCTGTCACATT	0.473000													19	197					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40631814	40631814	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:40631814C>T	ENST00000298910.7	+	5	538	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRK2_ENST00000343742.2_Silent_p.F160F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	160					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGATATTTTCATGTTAATTT	0.333000													36	66					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66747244	66747244	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:66747244C>T	ENST00000359742.4	-	24	3352	c.3112G>A	c.(3112-3114)Ggg>Agg	p.G1038R	GRIP1_ENST00000398016.3_Missense_Mutation_p.G986R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G1023R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1038	PDZ 7.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTCCTGGCCCAGCTGGGCGA	0.473000													73	158					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36290969	36290969	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:36290969C>T	ENST00000373210.3	+	4	607	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TTTAAAGTGTCTGTTCAGTGG	0.413000													62	151					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532544	71532544	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:71532544G>A	ENST00000265382.3	+	9	1157	c.852G>A	c.(850-852)gaG>gaA	p.E284E	PIP5K1B_ENST00000541509.1_Silent_p.E284E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	284	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGAGAAAGAGGAGGAGACCC	0.463000													132	229					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114499	168114499	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:168114499C>T	ENST00000409728.1	+	11	1631	c.1542C>T	c.(1540-1542)aaC>aaT	p.N514N	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.N259N|XIRP2_ENST00000409756.2_Silent_p.N481N|XIRP2_ENST00000420519.1_Silent_p.N514N|XIRP2_ENST00000409043.1_Silent_p.N481N|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTGCAAAAACCAAAGCAGAT	0.333000													30	70					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763500	110763500	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:110763500G>A	ENST00000368919.3	-	4	1196	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	SLC22A16_ENST00000330550.4_Missense_Mutation_p.S343F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S377F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	377					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGAATTCAAGGAAAACGAGTA	0.373000													58	27					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028289	21028289	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21028289C>T	ENST00000381545.3	+	9	1067	c.848C>T	c.(847-849)cCa>cTa	p.P283L	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.P283L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P283L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P283L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	283					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCGAAAAATCCAAATAAACCA	0.353000													25	77					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38138070	38138070	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38138070G>A	ENST00000308059.6	+	15	2203	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E728K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E728K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	728					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGAAGCGGAGAGCCTGGG	0.532000													52	95					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650172	146650172	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:146650172C>T	ENST00000607149.1	+	0	350																											TAGGTTTTTTCGATGATTCAT	0.438000													9	196					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599345	136599345	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136599345G>A	ENST00000531224.1	-	4	926	c.674C>T	c.(673-675)tCa>tTa	p.S225L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S225L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S225L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S223L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S223L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S223L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	225					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTATGGGGTGATCTAGGACT	0.438000													36	208					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691240	18691240	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:18691240G>A	ENST00000433979.1	+	24	3467	c.3351G>A	c.(3349-3351)ctG>ctA	p.L1117L	PIK3C2G_ENST00000538779.1_Silent_p.L1158L|PIK3C2G_ENST00000266497.5_Silent_p.L1117L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1117	PI3K/PI4K.				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)				TGAACCTGCTGGAAATGGTAA	0.388000													28	65					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091887	30091887	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:30091887G>A	ENST00000567636.1	+	0	262					NR_003558.1																						GACCAAGCCCGAAAGGAAGCC	0.413000													11	99					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202648	39202648	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:39202648G>A	ENST00000351578.6	-	2	605	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	FYB_ENST00000505428.1_Missense_Mutation_p.L139F|FYB_ENST00000512982.1_Missense_Mutation_p.L139F|FYB_ENST00000515010.1_Missense_Mutation_p.L139F|FYB_ENST00000540520.1_Missense_Mutation_p.L149F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	139					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACACTGTGAAGAGATGGCTTG	0.483000													7	254					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668242	59668242	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:59668242C>T	ENST00000521764.1	-	1	321	c.300G>A	c.(298-300)aaG>aaA	p.K100K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	100	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					AGAGGATATTCTTAGATTTCC	0.448000													134	386					0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477749	145477749	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:145477749G>A	ENST00000311450.4	-	2	283	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	76										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTGAAGAGACCGGTGCTC	0.502000													4	109					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313000													10	38					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73826614	73826614	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73826614G>A	ENST00000264448.6	+	17	11742	c.11631G>A	c.(11629-11631)caG>caA	p.Q3877Q	ALMS1_ENST00000409009.1_Silent_p.Q3835Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3877					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCAACAAGCAGAATGTACACA	0.338000													77	158					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125831639	125831639	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:125831639A>T	ENST00000393434.2	-	19	2516	c.2167T>A	c.(2167-2169)Ttc>Atc	p.F723I	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.F723I|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.F622I|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.F733I|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	723	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTCCGCACGAACTCATCATGA	0.572000													9	142					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9489256	9489256	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:9489256C>T	ENST00000352665.5	+	2	306	c.237C>T	c.(235-237)atC>atT	p.I79I	WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Silent_p.I89I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	79						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGTACATCGCCTCCGGAC	0.483000													64	139					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799680	212799680	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212799680G>A	ENST00000294829.3	+	1	1892	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	487										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCAGGCACAGGGACTCGCATA	0.552000													34	137					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38261496	38261496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:38261496C>T	ENST00000373045.6	+	2	1019	c.638C>T	c.(637-639)aCc>aTc	p.T213I	MANEAL_ENST00000397631.3_Missense_Mutation_p.T213I|MANEAL_ENST00000329006.5_Missense_Mutation_p.P17S|MANEAL_ENST00000525897.1_Missense_Mutation_p.T19I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	213						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTGGACACCGCCCATCAG	0.602000													38	115					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161021986	161021986	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:161021986A>G	ENST00000447678.1	-	20	3210	c.3090T>C	c.(3088-3090)gtT>gtC	p.V1030V	LPA_ENST00000316300.5_Silent_p.V1030V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3538	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAGCCAGAATAACATTCGGAG	0.498000													6	94					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58146118	58146118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58146118C>T	ENST00000544273.1	+	4	575	c.248C>T	c.(247-249)tCc>tTc	p.S83F	ZNF211_ENST00000420680.1_Missense_Mutation_p.S75F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S10F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S10F|ZNF211_ENST00000240731.4_Missense_Mutation_p.S84F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S10F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S71F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S84F			Q13398	ZN211_HUMAN	zinc finger protein 211	71	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S84F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTACGTCCTCCCTGGGTAAG	0.527000													44	98					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346788	48346788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:48346788C>T	ENST00000319856.4	+	1	317	c.296C>T	c.(295-297)tCt>tTt	p.S99F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACCTTTTATTCTTCTTCTATG	0.463000													21	239					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183822585	183822585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183822585G>A	ENST00000415389.2	+	5	866	c.400G>A	c.(400-402)Gat>Aat	p.D134N	HTR3E_ENST00000436361.2_Missense_Mutation_p.D134N|HTR3E_ENST00000425359.2_Missense_Mutation_p.D119N|HTR3E_ENST00000440596.2_Missense_Mutation_p.D160N|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Missense_Mutation_p.D149N	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	134						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CATGGATGTGGATAAGACCCC	0.423000													51	100					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470324	179470324	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179470324C>T	ENST00000589042.1	-	279	53922	c.53698G>A	c.(53698-53700)Gaa>Aaa	p.E17900K	TTN_ENST00000359218.5_Missense_Mutation_p.E8960K|TTN_ENST00000591111.1_Missense_Mutation_p.E16259K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15332K|TTN_ENST00000460472.2_Missense_Mutation_p.E8835K|TTN_ENST00000342175.6_Missense_Mutation_p.E9027K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16259	Fibronectin type-III 29.						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)			CGCCGTTTTTCAATGATATAT	0.438000													64	113					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44100268	44100268	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:44100268C>T	ENST00000263776.8	+	9	1201	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	256							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTCATCAGCCCCCAGAACCCT	0.577000													27	46					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469843	72469843	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72469843A>C	ENST00000360141.3	+	2	497	c.209A>C	c.(208-210)aAa>aCa	p.K70T	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	70	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TCAGCAGGAAAAAGGAACGGC	0.517000													41	154					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114467530	114467530	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:114467530G>A	ENST00000394779.3	-	17	2787	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	C9orf84_ENST00000394777.4_Missense_Mutation_p.S813F|C9orf84_ENST00000318737.4_Missense_Mutation_p.S887F|C9orf84_ENST00000374287.3_Missense_Mutation_p.S887F	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	887										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACTTACTTGGATTCTAGCAG	0.318000													34	74					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76568928	76568928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76568928G>A	ENST00000389840.5	-	3	518	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q132*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGACCACCTGGGGCCATCCA	0.512000													21	46					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79083045	79083045	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:79083045G>A	ENST00000388820.4	-	6	1205	c.995C>T	c.(994-996)cCc>cTc	p.P332L	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	332	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ATGGTGCAGGGGATGGGCATC	0.592000													47	103					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6703397	6703397	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6703397C>T	ENST00000338694.2	-	8	1335	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	TEKT1_ENST00000535086.1_Silent_p.G256G	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	402					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CATGGTCTTCCCCATCCCGAA	0.502000													90	157					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701556	40701556	+	Silent	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:40701556T>G	ENST00000372771.4	+	8	1209	c.1182T>G	c.(1180-1182)gtT>gtG	p.V394V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	394					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGGCATCAGTTTGTAAAACAA	0.393000													12	105					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286636	57286636	+	Missense_Mutation	SNP	C	C	T	rs141305291	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57286636C>T	ENST00000391708.3	-	12	1546	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ZIM2_ENST00000599935.1_Missense_Mutation_p.R335Q|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R335Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R335Q|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R335Q	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACTAAAGGTTCGTTTGCAAAA	0.468000													30	76					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22658711	22658711	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:22658711G>A	ENST00000400546.1	+	4	709	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.E179K|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	154	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATAATGAGGAAGTCACCAC	0.388000													31	51					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672611	27672611	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:27672611G>A	ENST00000260570.3	-	37	4210	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1369					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCACCCTCGATGAAAGCAT	0.493000													77	157					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCTCCTCCTCCCAGCCTTAG	0.393000													4	157					0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646406	150646406	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:150646406C>T	ENST00000357164.3	+	3	683	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	120						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTAATTCCTACTGGGGA	0.532000													42	98					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371122	240371122	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:240371122C>T	ENST00000319653.9	+	5	3240	c.3010C>T	c.(3010-3012)Ccc>Tcc	p.P1004S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1004	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCCACTTCCCGGAGCGGG	0.716000													9	42					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139983450	139983450	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:139983450C>T	ENST00000371589.4	+	3	531	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	153					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCTGAGATTTCGTCACAGGTA	0.458000													70	192					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561479	9561479	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:9561479C>T	ENST00000378429.3	-	5	849	c.303G>A	c.(301-303)agG>agA	p.R101R	PAK7_ENST00000353224.5_Silent_p.R101R|PAK7_ENST00000378423.1_Silent_p.R101R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	101	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTTCTTTCCTTAGGGAGT	0.532000													7	166					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413445	182413445	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:182413445C>T	ENST00000410087.3	-	7	1135	c.1035G>A	c.(1033-1035)cgG>cgA	p.R345R	CERKL_ENST00000409440.3_Silent_p.R327R|CERKL_ENST00000339098.5_Silent_p.R371R|CERKL_ENST00000374969.2_Silent_p.R232R|CERKL_ENST00000374970.2_Silent_p.R276R|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	371					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAAAATCTCTCCGTTGGTTAG	0.403000													37	72					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039677	248039677	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248039677C>T	ENST00000366481.3	+	6	1395	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	449	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTACTTTTTCATCTGTGATG	0.423000													122	139					0	0	1	0	0
CCNYL2	414194	broad.mit.edu	37	10	42947107	42947107	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:42947107G>A	ENST00000483242.3	-	0	647					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGGATGGTCAGAAGGGTTGGG	0.348000													9	22					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845347	139845347	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:139845347C>T	ENST00000303045.6	-	5	1226	c.780G>A	c.(778-780)aaG>aaA	p.K260K	COL22A1_ENST00000435777.1_Silent_p.K260K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	260	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATTCTCTCTCTTCCCCAAGA	0.483000										HNSCC(7;0.00092)			34	67					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6903963	6903963	+	Splice_Site	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:6903963T>G	ENST00000312053.4	+	7	839		c.e7+2		EMR1_ENST00000381407.5_Splice_Site|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381404.4_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					AATGTAGAGGTGAGCAGAGAG	0.468000													39	77					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376368	15376368	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15376368G>A	ENST00000263377.2	-	5	867	c.646C>T	c.(646-648)Cct>Tct	p.P216S	BRD4_ENST00000360016.5_Missense_Mutation_p.P216S|BRD4_ENST00000371835.4_Missense_Mutation_p.P216S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	216					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGCACAGGAGGAGGATTCGGC	0.597000			T	C15orf55	lethal midline carcinoma of young people								81	221					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043056	30043056	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:30043056C>T	ENST00000244360.6	-	1	608	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	RNF39_ENST00000376751.3_Missense_Mutation_p.G171R	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	171						cytoplasm	zinc ion binding										CGGCGTCTCCCCGCACGGGCC	0.716000													8	18					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559742	140559742	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140559742C>T	ENST00000239444.2	+	1	2372	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		709					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.672000													89	172					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126384750	126384750	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:126384750G>A	ENST00000394329.3	+	10	11840	c.11827G>A	c.(11827-11829)Gaa>Aaa	p.E3943K	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3943	EGF-like 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATTACTGTGAATGCAACCC	0.308000													11	13					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799681	212799681	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:212799681G>C	ENST00000294829.3	+	1	1893	c.1462G>C	c.(1462-1464)Gac>Cac	p.D488H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	488										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAGGCACAGGGACTCGCATAA	0.552000													34	138					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29635434	29635434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29635434G>A	ENST00000376894.4	+	4	683	c.565G>A	c.(565-567)Gag>Aag	p.E189K	MOG_ENST00000376888.2_Missense_Mutation_p.E73K|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.E189K|MOG_ENST00000376898.3_Missense_Mutation_p.E189K|MOG_ENST00000396704.3_Missense_Mutation_p.E189K|MOG_ENST00000494692.1_Missense_Mutation_p.E189K|MOG_ENST00000490427.1_Missense_Mutation_p.E73K|MOG_ENST00000416766.2_Missense_Mutation_p.E151K|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.E189K|MOG_ENST00000431798.2_Missense_Mutation_p.E189K|MOG_ENST00000483013.1_Missense_Mutation_p.E73K|MOG_ENST00000396701.2_Missense_Mutation_p.E189K			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	189					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ACTTCGAGCAGAGATAGGTGA	0.498000													39	128					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320856	79320856	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79320856C>T	ENST00000428286.1	-	8	6457	c.5257G>A	c.(5257-5259)Gaa>Aaa	p.E1753K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2112K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2112					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCTTTGCTTCAGAATCGTGA	0.483000													84	131					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349698	100349698	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100349698C>T	ENST00000542585.1	+	0	2118				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCGTCCCCACAGAAGAG	0.522000													76	185					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100001862	100001862	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100001862C>T	ENST00000398027.2	-	14	1504	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	ZCWPW1_ENST00000324725.6_Silent_p.R299R|ZCWPW1_ENST00000490721.1_Silent_p.R299R|ZCWPW1_ENST00000360951.4_Silent_p.R420R	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	419							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAAGTTAACCCGTTCCTAAG	0.433000													21	63					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10023937	10023937	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:10023937G>A	ENST00000378380.3	+	3	843	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.E172K|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GACATTTTTGGAAAAAGGAGC	0.343000													37	76					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17930038	17930038	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:17930038G>A	ENST00000409389.1	-	5	560	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	SNX13_ENST00000409604.1_Missense_Mutation_p.L130F|SNX13_ENST00000428135.3_Missense_Mutation_p.L130F			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	130	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATTTCAAGAAGAAAAGATTCA	0.323000													22	58					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415720	42415720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:42415720C>T	ENST00000328823.9	+	3	257	c.226C>T	c.(226-228)Cca>Tca	p.P76S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P2S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	76	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTTATGATGCCATTTGATCT	0.408000													105	218					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799101	45799101	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:45799101G>A	ENST00000553795.1	-	4	1078	c.770C>T	c.(769-771)tCc>tTc	p.S257F	OR13A1_ENST00000374401.2_Missense_Mutation_p.S257F|OR13A1_ENST00000536058.1_Missense_Mutation_p.S257F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGAGCAGGTGGAGAAGGCTTT	0.557000													8	90					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826310	21826310	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:21826310C>T	ENST00000426869.3	+	0	493					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		AACAAGTTACCCTTTTGGCAC	0.572000													7	34					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591097	55591097	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:55591097C>T	ENST00000373965.2	-	31	4595	c.4201G>A	c.(4201-4203)Gtg>Atg	p.V1401M	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1323M|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1401M|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1372M|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1394M|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1357M|PCDH15_ENST00000395438.1_Missense_Mutation_p.V1394M|PCDH15_ENST00000409834.1_Missense_Mutation_p.V1005M|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V1394M|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1399M|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1394M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1394					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCAAAACCACCAAGATGGCA	0.458000										HNSCC(58;0.16)			31	101					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992897	96992897	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:96992897C>T	ENST00000361124.4	+	1	963	c.552C>T	c.(550-552)gtC>gtT	p.V184V	ITPRIPL1_ENST00000439118.2_Silent_p.V176V|ITPRIPL1_ENST00000542887.1_Silent_p.V168V|ITPRIPL1_ENST00000536814.1_Silent_p.V168V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	176						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACACTATGTCCAAAATGCCA	0.547000													79	131					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35826156C>T	ENST00000423537.2	-	2	272	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157693901	157693901	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:157693901C>T	ENST00000502773.1	-	4	1130	c.640G>A	c.(640-642)Gat>Aat	p.D214N	PDGFC_ENST00000422544.2_Missense_Mutation_p.D214N|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.D51N|PDGFC_ENST00000542208.1_Missense_Mutation_p.D59N	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	214					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTATATAGATCTTCTAAGTCC	0.398000													30	46					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118567	34118567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34118567G>A	ENST00000297161.2	+	13	1551	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	BMPER_ENST00000426693.1_Missense_Mutation_p.D393N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	393	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTGACAAAAGACTGCTCCTC	0.582000													73	151					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128603514	128603514	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:128603514C>T	ENST00000308982.7	+	2	250	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	57						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTCCCATTTCCAGAAGTTAG	0.323000													48	68					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46185076	46185076	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46185076C>T	ENST00000590918.1	+	14	1383	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Silent_p.F392F	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	428					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		AGCGCGCCTTCCGGGCCCTGC	0.751000													6	15					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535893	39535893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39535893C>T	ENST00000394001.1	-	4	835	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	269	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCCTGGTCTCGTTCAGGACC	0.587000													21	68					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753384	49753384	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49753384G>A	ENST00000327697.6	+	33	3424	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	RNF123_ENST00000433785.1_Missense_Mutation_p.E206K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1094						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTGGTGCCTGAGATATTCCT	0.587000													48	91					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101827130	101827130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:101827130G>A	ENST00000254193.6	-	5	514	c.442C>T	c.(442-444)Cag>Tag	p.Q148*		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	148	LRRCT.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCACTTTCTGGAAATCCAGT	0.313000													5	180					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833460	97833460	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:97833460C>T	ENST00000297293.5	+	13	4738	c.4445C>T	c.(4444-4446)tCc>tTc	p.S1482F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1482				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCAGCTTTTCCCTCACACAC	0.677000													78	130					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50349380	50349380	+	Silent	SNP	G	G	A	rs144584058	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50349380G>A	ENST00000394697.2	+	26	3547	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	ADCY7_ENST00000254235.3_Silent_p.T1069T			P51828	ADCY7_HUMAN	adenylate cyclase 7	1069					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TTGTCTGTACGGACACTGCCA	0.582000													16	110					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132181575	132181575	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:132181575C>T	ENST00000360971.2	+	8	864	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	282	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AATGTATGATCCCAAAATGAA	0.299000													25	38					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118314941	118314941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:118314941C>T	ENST00000369221.2	+	8	761	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	245					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.P245A(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGATTTCTTTCCAAATGGAGG	0.388000													36	97					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084323	248084323	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248084323G>A	ENST00000319968.4	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAAATCATGGAAAATGGGAG	0.378000													28	128					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645663	58645663	+	Silent	SNP	C	C	T	rs74922235		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:58645663C>T	ENST00000313426.1	+	4	387	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	27										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GTCAACACTTCAAACAACACA	0.338000													34	67					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950522	198950522	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:198950522T>C	ENST00000428675.1	+	2	2679	c.2281T>C	c.(2281-2283)Tgt>Cgt	p.C761R	PLCL1_ENST00000437704.2_Missense_Mutation_p.C663R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	761	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCAGCGGATTGTTCGGAACA	0.418000													6	155					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16253940	16253940	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:16253940G>A	ENST00000354981.2	-	26	4069	c.3912C>T	c.(3910-3912)ttC>ttT	p.F1304F	KIF16B_ENST00000378003.2_Silent_p.F489F|KIF16B_ENST00000355755.3_Silent_p.F1274F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1304					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTTTCTTGAAGAATGGTG	0.532000													30	78					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123418879	123418879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:123418879G>A	ENST00000360772.3	-	19	3814	c.3436C>T	c.(3436-3438)Ctc>Ttc	p.L1146F	MYLK_ENST00000346322.5_Missense_Mutation_p.L1077F|MYLK_ENST00000475616.1_Missense_Mutation_p.L1146F|MYLK_ENST00000360304.3_Missense_Mutation_p.L1146F|MYLK_ENST00000359169.1_Missense_Mutation_p.L1146F			Q15746	MYLK_HUMAN	myosin light chain kinase	1146	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTGGGAGAGGATGATGAAC	0.577000													52	127					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022372	51022372	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51022372C>T	ENST00000599957.1	-	3	795	c.598G>A	c.(598-600)Gag>Aag	p.E200K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.E200K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	200						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AAGGCCGCCTCCGAGATGTAT	0.652000													30	58					0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60982855	60982855	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:60982855C>G	ENST00000505642.1	+	3	258	c.183C>G	c.(181-183)ttC>ttG	p.F61L	C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.F61L|RP11-2O17.2_ENST00000513386.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	61						extracellular region				breast(1)	1						AAGTTTACTTCCCTTCAATCA	0.433000													59	99					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265871	45265871	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:45265871C>T	ENST00000020926.3	-	6	1124	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	338	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTTCAGCTTCCGAGCCTGGTG	0.532000													28	66					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171484	77171484	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:77171484C>T	ENST00000253506.5	+	2	1578	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	NFATC1_ENST00000318065.5_Silent_p.S390S|NFATC1_ENST00000587635.1_Silent_p.S403S|NFATC1_ENST00000592223.1_Silent_p.S390S|NFATC1_ENST00000329101.4_Silent_p.S390S|NFATC1_ENST00000586434.1_Silent_p.S390S|NFATC1_ENST00000427363.2_Silent_p.S403S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Silent_p.S403S|NFATC1_ENST00000542384.1_Silent_p.S403S|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	403					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCCCCTGTCCCCTACGTCCT	0.726000													4	9					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823110	39823110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39823110G>A	ENST00000564288.1	+	45	12265	c.11488G>A	c.(11488-11490)Gcc>Acc	p.A3830T	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.A1768T|MACF1_ENST00000567887.1_Missense_Mutation_p.A3867T|MACF1_ENST00000545844.1_Missense_Mutation_p.A1768T|MACF1_ENST00000361689.2_Missense_Mutation_p.A1768T|MACF1_ENST00000372915.3_Missense_Mutation_p.A3835T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2270T|MACF1_ENST00000317713.7_Missense_Mutation_p.A1768T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3835					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGCTCAGGCCTTCTTGGA	0.498000													6	100					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371864	48371864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48371864C>T	ENST00000380518.3	-	44	3204	c.3040G>A	c.(3040-3042)Gga>Aga	p.G1014R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G945R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1014	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTCTGTCTCCAGATGCTCCA	0.657000													19	42					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167051674	167051674	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167051674C>T	ENST00000392766.2	-	10	968	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.E181K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E210K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E210K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E210K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	210						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTACTGGTTTCCTTTGTAGAA	0.348000													42	61					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110680	20110680	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:20110680G>A	ENST00000381569.1	-	3	1119	c.762C>T	c.(760-762)tcC>tcT	p.S254S	LZTS1_ENST00000265801.6_Silent_p.S254S|LZTS1_ENST00000522290.1_Silent_p.S254S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	254					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGGAGATGGGGGAGCGGACAC	0.617000													11	100					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570784	226570784	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:226570784G>A	ENST00000366794.5	-	8	1255	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	371					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTGTGGAGGGCGGAGGCGT	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					157	196					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437544	120437544	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120437544C>T	ENST00000369400.1	-	1	1574	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	472	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACTTGAATTCCCGTCGCAGT	0.478000													25	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664232	179664232	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179664232G>A	ENST00000589042.1	-	6	1120	c.896C>T	c.(895-897)cCg>cTg	p.P299L	TTN_ENST00000359218.5_Missense_Mutation_p.P299L|TTN_ENST00000591111.1_Missense_Mutation_p.P299L|TTN_ENST00000342992.6_Missense_Mutation_p.P299L|TTN_ENST00000460472.2_Missense_Mutation_p.P299L|TTN_ENST00000342175.6_Missense_Mutation_p.P299L|TTN_ENST00000360870.5_Missense_Mutation_p.P299L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	299	ZIS1.						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)			AGATGGGGTCGGTGCCCGCAC	0.557000													44	63					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696581	169696581	+	Silent	SNP	G	G	A	rs148912766		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:169696581G>A	ENST00000333360.7	-	10	1693	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SELE_ENST00000367777.1_Silent_p.F455F|SELE_ENST00000367781.4_Silent_p.F455F|SELE_ENST00000367776.1_Silent_p.F455F|SELE_ENST00000367782.4_Silent_p.F455F|SELE_ENST00000367775.1_Silent_p.F393F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.F393F|SELE_ENST00000367779.4_Silent_p.F392F|SELE_ENST00000367774.1_Silent_p.F392F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	518	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CAGGACAGGCGAACTTGCACA	0.542000													61	76					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245343	46245343	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:46245343C>T	ENST00000334344.6	+	15	3609	c.3437C>T	c.(3436-3438)tCg>tTg	p.S1146L	ARID2_ENST00000444670.1_Missense_Mutation_p.S756L|ARID2_ENST00000422737.1_Missense_Mutation_p.S997L|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1146					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGCCCATTTCGAACTTACAA	0.488000			"""N, S, F"""		hepatocellular carcinoma								30	86					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81703749	81703749	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:81703749C>T	ENST00000537098.3	+	8	900	c.828C>T	c.(826-828)gaC>gaT	p.D276D	CMIP_ENST00000398040.4_Silent_p.D123D|CMIP_ENST00000539778.2_Silent_p.D182D|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	242						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTCCACAGGACTTTGGGAAGT	0.592000													6	10					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513691	99513691	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:99513691G>A	ENST00000261037.3	+	5	1326	c.946G>A	c.(946-948)Gga>Aga	p.G316R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G316R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	316	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACCCGGAATTGGAAAGCCAGG	0.652000													23	49					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789691	130789691	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:130789691G>A	ENST00000276708.4	-	2	1024	c.143C>T	c.(142-144)tCa>tTa	p.S48L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	48						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTCCCAAAATGATGAACGAGA	0.428000													46	89					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852405	15852405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15852405C>T	ENST00000305892.1	+	1	203	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTGCCCTCTCCATCTCTGAG	0.502000													8	473					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284466	43284466	+	RNA	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:43284466C>G	ENST00000511537.1	-	0	469					NR_033868.1																						TAGTCTTTCTCCAGTAAGAAC	0.393000													15	30					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89807141	89807141	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:89807141C>T	ENST00000310775.7	+	8	639	c.553C>T	c.(553-555)Cct>Tct	p.P185S	FANCI_ENST00000567996.1_Missense_Mutation_p.P185S|FANCI_ENST00000300027.8_Missense_Mutation_p.P185S|FANCI_ENST00000451393.2_Missense_Mutation_p.P6S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	185					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGGGATGTCCCTCTGACTGC	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				33	58					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599710	136599710	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:136599710C>T	ENST00000531224.1	-	4	561	c.309G>A	c.(307-309)agG>agA	p.R103R	BCLAF1_ENST00000527536.1_Silent_p.R103R|BCLAF1_ENST00000530767.1_Silent_p.R103R|BCLAF1_ENST00000392348.2_Silent_p.R101R|BCLAF1_ENST00000527759.1_Silent_p.R101R|BCLAF1_ENST00000353331.4_Silent_p.R101R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	103					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTAGGACTCCTAGAGTGCC	0.468000													43	220					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379790	138379790	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:138379790C>T	ENST00000356818.2	+	4	3983	c.3434C>T	c.(3433-3435)cCa>cTa	p.P1145L	PPP1R26_ENST00000605286.1_Missense_Mutation_p.P1145L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P1145L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P1145L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P1145L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	1145						nucleolus	protein binding										GGCCCCTGGCCAACCAGGAAG	0.627000													16	36					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47307225	47307225	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:47307225G>A	ENST00000335044.2	-	8	1268	c.911C>T	c.(910-912)tCg>tTg	p.S304L	KIF9_ENST00000265529.3_Missense_Mutation_p.S304L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.S304L|KIF9_ENST00000452770.2_Missense_Mutation_p.S304L|KIF9_ENST00000352910.4_Missense_Mutation_p.S211L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	304					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCACCTAACGAGTCCTTCAG	0.582000													27	73					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933707	209933707	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:209933707G>A	ENST00000367024.1	+	3	839	c.323G>A	c.(322-324)aGg>aAg	p.R108K	TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R108K|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGTGCCAGAAGGATTTCTTCT	0.612000													12	20					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282986	69282986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69282986G>A	ENST00000338352.2	+	1	646	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	204	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						ACGACTTCATGATCTACTGCG	0.622000													35	13					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533018	84533018	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:84533018G>A	ENST00000527857.1	+	0	3040					NR_026851.1																						AAGGGCAGGGGACCCTGAGAA	0.468000													22	73					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108352813	108352813	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:108352813G>A	ENST00000434945.2	-	3	955	c.653C>T	c.(652-654)cCa>cTa	p.P218L	KDELC2_ENST00000375648.1_Missense_Mutation_p.P218L|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.P274L			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	274						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GTCATACGTTGGAAGGACAAC	0.478000													68	66					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700836	44700836	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:44700836C>T	ENST00000396056.2	+	4	1216	c.981C>T	c.(979-981)gtC>gtT	p.V327V	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.V167V|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	327					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACCAGAAAGTCCACATTACGG	0.408000													37	75					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23296725	23296725	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:23296725C>T	ENST00000409458.3	+	4	731	c.582C>T	c.(580-582)tcC>tcT	p.S194S	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000381990.2_Intron|GPNMB_ENST00000539136.1_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	0					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTTACCTTTCCTTAAAATTTC	0.393000													11	88					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70990095	70990095	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:70990095G>A	ENST00000334414.6	-	5	1036	c.992C>T	c.(991-993)cCt>cTt	p.P331L	PTPRB_ENST00000261266.5_Missense_Mutation_p.P113L|PTPRB_ENST00000551525.1_Missense_Mutation_p.P330L|PTPRB_ENST00000451516.2_Missense_Mutation_p.P113L|PTPRB_ENST00000550857.1_Missense_Mutation_p.P113L|PTPRB_ENST00000538708.1_Missense_Mutation_p.P113L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.P331L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	113	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P331L(1)|p.P113L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAACCTAGCAGGAGGTAAAGG	0.383000													10	21					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44879721	44879721	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44879721C>T	ENST00000372262.3	-	1	613	c.213G>A	c.(211-213)gtG>gtA	p.V71V	CDH22_ENST00000537909.1_Silent_p.V71V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	71	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCCTCTACCACGAAGAACT	0.687000													23	67					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28365684	28365684	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:28365684G>A	ENST00000479665.1	-	8	1559	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	343						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTCTTCCAGAGAATTTCTGCC	0.403000													5	219					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75873520	75873520	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:75873520G>A	ENST00000377636.3	-	17	3448	c.3102C>T	c.(3100-3102)ctC>ctT	p.L1034L	TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.L1026L|TBC1D4_ENST00000377625.2_Silent_p.L971L|TBC1D4_ENST00000425511.1_Silent_p.L198L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1034	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGTCATACATGAGGAATTTCA	0.507000													20	21					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84649787	84649787	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:84649787C>T	ENST00000370689.2	+	4	569	c.305C>T	c.(304-306)cCt>cTt	p.P102L	PRKACB_ENST00000370685.3_Missense_Mutation_p.P149L|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.P108L|PRKACB_ENST00000370688.3_Missense_Mutation_p.P102L|PRKACB_ENST00000394838.2_Missense_Mutation_p.P109L|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370682.3_Missense_Mutation_p.P106L	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	102	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GTGAATTTTCCTTTCCTTGTT	0.269000													5	126					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813101	158813101	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158813101C>T	ENST00000368141.4	+	3	559	c.298C>T	c.(298-300)Cca>Tca	p.P100S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	100					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAAAAGCTCCAGTGAAAAA	0.438000													20	83					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121642080	121642080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:121642080G>A	ENST00000489711.1	+	11	1357	c.969G>A	c.(967-969)tgG>tgA	p.W323*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W292*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	323					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTTCACGATGGACTTTGCAAG	0.403000													47	75					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26399266	26399266	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:26399266G>A	ENST00000335473.7	+	41	6573	c.6323G>A	c.(6322-6324)cGa>cAa	p.R2108Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R2108Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2109Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2108						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						AGCAGCGGCCGAAAAGAGATG	0.532000													8	25					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852427	40852427	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:40852427G>A	ENST00000254691.5	+	3	1192	c.993G>A	c.(991-993)atG>atA	p.M331I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	331					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATTTCCTGATGAAAGTTCAAG	0.463000													15	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466641	179466641	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179466641C>T	ENST00000589042.1	-	285	55494	c.55269_splice	c.e285-1	p.D18424_splice	TTN_ENST00000359218.5_Splice_Site_p.D9484_splice|TTN_ENST00000591111.1_Splice_Site_p.D16783_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D15856_splice|TTN_ENST00000460472.2_Splice_Site_p.D9359_splice|TTN_ENST00000342175.6_Splice_Site_p.D9551_splice|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16783	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACTCCATCCTATTAGAAA	0.313000													42	59					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223238	140223238	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140223238C>T	ENST00000531613.1	+	1	2332	c.2332C>T	c.(2332-2334)Cct>Tct	p.P778S	PCDHA8_ENST00000378123.3_Missense_Mutation_p.P778S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCTTCCTCCTGATCTGGG	0.493000													24	63					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129234359	129234359	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129234359C>T	ENST00000296266.3	+	27	3527	c.3335C>T	c.(3334-3336)tCc>tTc	p.S1112F	IFT122_ENST00000440957.2_Missense_Mutation_p.S852F|IFT122_ENST00000347300.2_Missense_Mutation_p.S1002F|IFT122_ENST00000504021.1_Missense_Mutation_p.S938F|IFT122_ENST00000349441.2_Missense_Mutation_p.S951F|IFT122_ENST00000507564.1_Missense_Mutation_p.S1054F|IFT122_ENST00000431818.2_Missense_Mutation_p.S911F|IFT122_ENST00000348417.2_Missense_Mutation_p.S1061F	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1061					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACCGCTGCTCCACCAACAAC	0.622000													24	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500199	179500199	+	Missense_Mutation	SNP	C	C	T	rs55723264		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179500199C>T	ENST00000589042.1	-	227	42076	c.41852G>A	c.(41851-41853)gGa>gAa	p.G13951E	TTN_ENST00000359218.5_Missense_Mutation_p.G5011E|TTN_ENST00000591111.1_Missense_Mutation_p.G12310E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11383E|TTN_ENST00000460472.2_Missense_Mutation_p.G4886E|TTN_ENST00000342175.6_Missense_Mutation_p.G5078E|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12310	Ig-like 95.						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)			GTATCTTTTTCCTTCAATTTC	0.338000													9	12					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139824437	139824437	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:139824437G>A	ENST00000397560.2	-	7	1132	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	JHDM1D_ENST00000006967.5_Silent_p.T345T	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		345	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GAACAAATAAGGTATGTCCCT	0.413000													34	81					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289242	33289242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:33289242C>T	ENST00000374542.5	-	3	514	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DAXX_ENST00000414083.2_Missense_Mutation_p.E29K|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.E104K	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	104	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTGCAGAACTCCGCCGAGGCC	0.562000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								128	142					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250596	140250596	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140250596G>A	ENST00000398640.2	+	1	1908	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGTGCCCTGGACGAGGCAG	0.667000													30	155					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21951980	21951980	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:21951980C>T	ENST00000289921.7	+	2	121	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	25										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGCTGCAGGCCTTCGTGGAGC	0.672000													8	87					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315833	50315833	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:50315833C>A	ENST00000332853.3	-	2	286	c.263G>T	c.(262-264)gGg>gTg	p.G88V	VSTM4_ENST00000298454.3_Missense_Mutation_p.G88V	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCTGAAATTCCCATAGTACTG	0.627000													38	75					3.61848e-18	3.65228e-18	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151110241	151110241	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:151110241G>A	ENST00000341697.3	-	10	2393	c.702C>T	c.(700-702)gaC>gaT	p.D234D				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	234	Sema.					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)			AGTAGACATGGTCTCCATGCT	0.562000													8	213					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853389	143853389	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:143853389G>A	ENST00000507359.2	+	3	2090	c.999G>A	c.(997-999)gtG>gtA	p.V333V	KCTD16_ENST00000512467.1_Silent_p.V333V	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	333						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTGGTCCCGTGACACGCCAGA	0.592000													11	110					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468528	156468528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:156468528G>A	ENST00000405335.1	+	9	1232	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	RNF32_ENST00000343665.4_Missense_Mutation_p.E251K|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.E275K|RNF32_ENST00000392743.2_Missense_Mutation_p.E275K|RNF32_ENST00000311822.8_Missense_Mutation_p.E275K|RNF32_ENST00000432459.2_Missense_Mutation_p.E275K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	275						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGATCACAGAAGAGGAATG	0.502000													5	199					0	0	1	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460415	32460415	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:32460415C>T	ENST00000395900.1	+	0	1293				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						tctaccTCTTCAGAGCTAATG	0.542000													8	32					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789017	5789017	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:5789017C>T	ENST00000328090.5	+	15	4258	c.3633C>T	c.(3631-3633)gcC>gcT	p.A1211A		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1211																	CATCATCAGCCTCTACCACCT	0.473000													32	95					0	0	1	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193262	90193262	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:90193262G>A	ENST00000390275.2	+	0	369																											AGAAACCAGGGAAAGCTCCTA	0.527000													66	146					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262090	39262090	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39262090C>T	ENST00000391415.1	+	1	507	c.450C>T	c.(448-450)tgC>tgT	p.C150C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	150	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccaactgctgccgccccagct	0.662000													5	29					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10231403	10231403	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10231403G>A	ENST00000418404.3	-	21	2634	c.2471C>T	c.(2470-2472)tCt>tTt	p.S824F	MYH13_ENST00000252172.4_Missense_Mutation_p.S824F|MYH13_ENST00000570743.1_Missense_Mutation_p.S824F|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	824					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTTCATAAAAGAGCGGATGTT	0.502000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	83					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	886109	886109	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:886109G>A	ENST00000312090.6	-	5	690	c.540C>T	c.(538-540)atC>atT	p.I180I	MED16_ENST00000325464.1_Silent_p.I180I|MED16_ENST00000395808.3_Silent_p.I180I|MED16_ENST00000269814.4_Silent_p.I180I|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Silent_p.I180I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	180					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCACCGCGATCCAGCCCT	0.692000													18	24					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222905	44222905	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:44222905G>A	ENST00000244314.5	+	2	394	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	65						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A65A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGGGCGCGGGCAAGTCCT	0.701000													52	88					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700748	136700748	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:136700748C>T	ENST00000445907.2	+	3	1664	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P379L|CHRM2_ENST00000453373.1_Missense_Mutation_p.P379L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P379L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P379L|CHRM2_ENST00000401861.1_Missense_Mutation_p.P379L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	379					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAGCCTCCTCCTTCCCGGGAA	0.458000													48	139					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27018595	27018595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:27018595G>A	ENST00000354760.3	+	2	70	c.35G>A	c.(34-36)tGg>tAg	p.W12*	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	12	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCGGGACCCTGGAAGGTAGGA	0.537000													27	61					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80733024	80733024	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80733024C>T	ENST00000458043.2	+	42	5009	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1656F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACTTGTCATCCTACACAGAA	0.353000													78	205					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538648	152538648	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152538648G>A	ENST00000368789.1	-	2	92	c.37C>T	c.(37-39)Cca>Tca	p.P13S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	13					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CACTTGGGTGGGGGTTGGCAC	0.572000													96	91					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920395	4920395	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:4920395C>T	ENST00000433855.1	+	1	2054	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	KCNA6_ENST00000280684.3_Silent_p.F396F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	396						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGTCTACTTCGCAGAGGCTG	0.567000										HNSCC(72;0.22)			92	39					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314662	70314662	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:70314662A>C	ENST00000377844.4	-	8	2425	c.1666T>G	c.(1666-1668)Tat>Gat	p.Y556D	KLHL1_ENST00000545028.1_Missense_Mutation_p.Y363D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	556					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCACAGCATAAATAGGGCCT	0.383000													6	73					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621191	38621191	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:38621191C>T	ENST00000222345.6	+	10	3431	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	974	PDZ.				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)			GGAACGGGCTCGGGCAGCTGG	0.667000													44	81					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86749164	86749164	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:86749164C>T	ENST00000340353.7	+	1	279	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TMEM135_ENST00000305494.5_Missense_Mutation_p.S26F|TMEM135_ENST00000355734.4_Missense_Mutation_p.S26F|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	26						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCCGGGTCTCCTTCCTGCAG	0.612000													51	73					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918866	144918866	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:144918866G>A	ENST00000529945.1	-	6	2248	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	PDE4DIP_ENST00000313431.9_Silent_p.N603N|PDE4DIP_ENST00000313382.9_Silent_p.N506N|PDE4DIP_ENST00000369351.3_Silent_p.N440N|PDE4DIP_ENST00000479408.2_Silent_p.N227N|PDE4DIP_ENST00000369356.4_Silent_p.N440N|PDE4DIP_ENST00000530740.1_Silent_p.N577N|PDE4DIP_ENST00000369359.4_Silent_p.N577N|PDE4DIP_ENST00000369349.3_Silent_p.N440N|PDE4DIP_ENST00000369354.3_Silent_p.N440N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	440					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAGACTATGGTTTAGGTGCT	0.388000			T	PDGFRB	MPD								152	994					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054263	29054263	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:29054263C>T	ENST00000377173.2	-	1	827	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATATAAATGGCTGTTCCATAA	0.443000													21	70					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37453528	37453528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37453528G>A	ENST00000403888.3	+	4	503	c.502G>A	c.(502-504)Gag>Aag	p.E168K	KCTD17_ENST00000402077.3_Missense_Mutation_p.E168K			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	168						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CTGGCGCTTCGAGCAGGTGCG	0.662000													14	24					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11154788	11154788	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:11154788C>T	ENST00000409790.1	+	19	2255	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S	CLEC16A_ENST00000409552.3_Silent_p.S657S|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	675								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTGCGTTCCCTGTCACTGC	0.547000													100	199					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69695608	69695608	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:69695608C>T	ENST00000409014.1	+	5	691	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	EXD2_ENST00000312994.5_Missense_Mutation_p.R137C|EXD2_ENST00000409018.3_Missense_Mutation_p.R137C|EXD2_ENST00000409675.1_Missense_Mutation_p.R12C|EXD2_ENST00000409242.1_Missense_Mutation_p.R12C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.R12C|EXD2_ENST00000449989.1_Missense_Mutation_p.R12C	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	12					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						TGTCTTGGTTCGCCTGCCCAA	0.478000													26	39					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245683	167245683	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:167245683C>T	ENST00000308378.3	-	11	1778	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.L316L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	491										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGAGATAATCAGTAACTGAC	0.428000													33	56					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269303	123269303	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:123269303C>T	ENST00000451558.1	+	12	1776	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	ASB15_ENST00000434204.1_Missense_Mutation_p.P419S|ASB15_ENST00000540573.1_Missense_Mutation_p.P419S|ASB15_ENST00000451215.1_Missense_Mutation_p.P419S|ASB15_ENST00000275699.3_Missense_Mutation_p.P419S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	419					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACTCGTTTCCCCAGTGTCAT	0.423000													67	185					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20787233	20787233	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20787233G>A	ENST00000289416.5	+	3	767	c.292G>A	c.(292-294)Gag>Aag	p.E98K	ACSM3_ENST00000440284.2_Missense_Mutation_p.E98K|ACSM3_ENST00000450120.2_Missense_Mutation_p.E53K	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	98					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGGAGTTTTGAGGAACTGGG	0.448000													64	107					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543323	25543323	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:25543323C>T	ENST00000269141.3	-	15	2935	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	CDH2_ENST00000399380.3_Missense_Mutation_p.E807K|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	838					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCTGTACCTCATTAATGAAG	0.473000													20	39					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309689	22309689	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22309689G>A	ENST00000390433.1	+	0	73																											CCAACGGAAGGAGGTGGAGCA	0.468000													28	35					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283090	152283090	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:152283090T>A	ENST00000368799.1	-	3	4307	c.4272A>T	c.(4270-4272)aaA>aaT	p.K1424N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1424	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCGGACTCTTTGTGGCTCT	0.552000									Ichthyosis				179	448					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796398	42796398	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42796398C>T	ENST00000314073.5	+	6	503	c.327C>T	c.(325-327)tcC>tcT	p.S109S	GLTSCR1L_ENST00000394168.1_Silent_p.S109S					GLTSCR1-like																		TTCAGAAATCCTTGCAAGAGG	0.453000													57	145					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790385	133790385	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:133790385C>T	ENST00000321016.8	-	18	3465	c.3235G>A	c.(3235-3237)Gga>Aga	p.G1079R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1079R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1079	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGGGCAGTCCTCGGGGGAGG	0.721000													25	18					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896292	13896292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13896292C>T	ENST00000285018.4	-	3	611	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	103				EA -> DG (in Ref. 1; AAC51319).	activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACGCAGCCTCCCGGCTCCCT	0.627000													30	79					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997284	165997284	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:165997284G>A	ENST00000360093.3	-	13	2387	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S	SCN3A_ENST00000283254.7_Silent_p.S632S|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	632						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCACCATCCTGGATGACATAC	0.527000													35	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629380	179629380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179629380G>A	ENST00000589042.1	-	42	10086	c.9862C>T	c.(9862-9864)Ctt>Ttt	p.L3288F	TTN_ENST00000359218.5_Missense_Mutation_p.L3242F|TTN_ENST00000591111.1_Missense_Mutation_p.L3288F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L3288F|TTN_ENST00000460472.2_Missense_Mutation_p.L3242F|TTN_ENST00000342175.6_Missense_Mutation_p.L3242F|TTN_ENST00000360870.5_Missense_Mutation_p.L3288F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3017	Ig-like 19.						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)			CCATCATGAAGAAATTTGCAC	0.498000													6	240					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105393494	105393494	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:105393494G>A	ENST00000394767.2	-	3	1539	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CXXC4_ENST00000426831.1_Silent_p.F194F|CXXC4_ENST00000466963.1_5'UTR	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	194					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		AGAACCATCGGAATGCTTCAG	0.343000													45	125					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082946	9082946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9082946C>T	ENST00000397910.4	-	1	9072	c.8869G>A	c.(8869-8871)Ggt>Agt	p.G2957S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2958	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTAAAACCTGTTGATTGA	0.502000													6	143					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32573765	32573765	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:32573765G>A	ENST00000319778.6	-	10	1907	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	EPC1_ENST00000375110.2_Silent_p.S485S|EPC1_ENST00000263062.8_Silent_p.S535S	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	535					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTCATGTAGGGATGGTGTCC	0.423000													12	196					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92182153	92182153	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:92182153G>A	ENST00000212355.4	-	11	2144	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	TGFBR3_ENST00000525962.1_Missense_Mutation_p.S560F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S559F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	560	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGTGAACAGGGAAGCATCTCC	0.468000													15	319					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54949024	54949024	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:54949024C>T	ENST00000173898.7	+	3	171	c.59C>T	c.(58-60)cCc>cTc	p.P20L	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.P20L|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.P20L|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	20					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCTCTGCCTCCCCCGGGGAGC	0.577000													5	21					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286790	57286790	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57286790C>T	ENST00000391708.3	-	12	1392	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	ZIM2_ENST00000599935.1_Missense_Mutation_p.G284S|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G284S|ZIM2_ENST00000221722.5_Missense_Mutation_p.G284S|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.G284S	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCATCACTGCCATAGCTTCTT	0.448000													31	84					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581069	234581069	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234581069C>T	ENST00000354728.4	+	1	571	c.489C>T	c.(487-489)ctC>ctT	p.L163L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ATTTCTCCCTCCCCTCCGTGG	0.433000													10	251					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52660461	52660461	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52660461G>A	ENST00000355568.4	-	16	1570	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	477							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGTCATTGTGGTACTGTTGGC	0.353000													37	97					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98916581	98916581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98916581G>A	ENST00000477737.1	+	25	3526	c.3322G>A	c.(3322-3324)Gga>Aga	p.G1108R	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1108										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATACCCAAAGGATTTGACTT	0.388000													5	255					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911818	158911818	+	Nonsense_Mutation	SNP	C	C	T	rs144716673		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158911818C>T	ENST00000368140.1	+	5	876	c.631C>T	c.(631-633)Cga>Tga	p.R211*	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.R202*|PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.R202*|PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.R211*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	211	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATTTTCCGAGAAGACCC	0.373000													54	57					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757982	242757982	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242757982G>A	ENST00000391969.2	+	5	1774	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	NEU4_ENST00000404257.1_Missense_Mutation_p.G367R|NEU4_ENST00000405370.1_Missense_Mutation_p.G355R|NEU4_ENST00000407683.1_Missense_Mutation_p.G355R|NEU4_ENST00000325935.6_Missense_Mutation_p.G368R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	355	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGGGGTCAGTGGGGATGTGGG	0.726000													3	16					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55756762	55756762	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55756762G>A	ENST00000412770.2	-	4	989	c.423C>T	c.(421-423)tcC>tcT	p.S141S	PPP6R1_ENST00000587283.1_Silent_p.S141S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	141	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TCCGAAGAAAGGACACGAGCT	0.667000													10	25					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968739	138968739	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138968739C>T	ENST00000288561.8	+	15	3088	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	UBN2_ENST00000473989.2_Missense_Mutation_p.P1030S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1030	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTTCAAATCTCCCTTCTCGAT	0.557000													34	107					0	0	1	0	0
SPINK14	408187	broad.mit.edu	37	5	147549306	147549306	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147549306C>T	ENST00000356972.1	+	1	11	c.11C>T	c.(10-12)tCt>tTt	p.S4F	SPINK14_ENST00000562793.1_Missense_Mutation_p.S4F	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	4						extracellular region	serine-type endopeptidase inhibitor activity	p.S4Y(1)		breast(1)|large_intestine(1)|lung(1)	3						ATGGCCAAATCTTTCCCAGTA	0.388000													16	38					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45697345	45697345	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:45697345G>A	ENST00000297323.7	+	6	1190	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E165K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	390					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGAAGCCACCGAGGTGGATCT	0.607000													3	36					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020560	46020560	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46020560G>A	ENST00000380102.2	+	1	64	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	13						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCAGCGACCTGAGCTACGGCA	0.622000													8	93					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48336258	48336258	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:48336258A>G	ENST00000421967.1	-	6	499	c.454T>C	c.(454-456)Ttc>Ctc	p.F152L	NME6_ENST00000451657.1_Silent_p.P130P|NME6_ENST00000452211.1_Missense_Mutation_p.F144L|NME6_ENST00000426689.2_Missense_Mutation_p.F144L|NME6_ENST00000426723.1_Missense_Mutation_p.F77L|NME6_ENST00000447314.1_Missense_Mutation_p.F99L|NME6_ENST00000415053.1_Missense_Mutation_p.F144L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Silent_p.P130P|NME6_ENST00000415644.1_Missense_Mutation_p.F77L|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.F144L|NME6_ENST00000435684.1_Silent_p.P130P	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	144					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCAGGGAAGAAGGCTGCAATC	0.527000													5	116					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50335126	50335126	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:50335126G>A	ENST00000394697.2	+	10	1708		c.e10+1		ADCY7_ENST00000566433.2_Splice_Site|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Splice_Site|ADCY7_ENST00000538642.1_Splice_Site			P51828	ADCY7_HUMAN	adenylate cyclase 7						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGACCCCCGGGTACGAGGGCT	0.682000													7	8					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595280	55595280	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55595280G>A	ENST00000378397.1	+	1	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTGTGAATGAGACACTGCT	0.443000										HNSCC(27;0.073)			107	174					0	0	1	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20811827	20811827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:20811827C>T	ENST00000375078.3	-	1	886	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	16						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CCGCCGTCGCCGTAGGGGCTC	0.736000													9	6					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669274	95669274	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95669274A>G	ENST00000298912.4	-	9	2525	c.2412T>C	c.(2410-2412)ggT>ggC	p.G804G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	804						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGTACCCACACCACCCCTGC	0.627000													41	75					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518431	233518431	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:233518431G>A	ENST00000366624.3	+	10	3346	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K	MLK4_ENST00000366622.1_Missense_Mutation_p.E475K	NM_032435.2	NP_115811.2																					ATCTATATATGAACTGGAGAA	0.423000													41	68					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747793	61747793	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:61747793G>A	ENST00000577390.1	-	10	2560	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.L536F|CDH8_ENST00000577730.1_Missense_Mutation_p.L536F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	536	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTCTGGAAGGAGACTGTAT	0.343000													26	29					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217711	150217711	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150217711G>A	ENST00000313543.4	+	2	806	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	217							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAACGGGAAGAGGTTTT	0.393000													6	108					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459291	120459291	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120459291G>A	ENST00000256646.2	-	34	6273	c.6054C>T	c.(6052-6054)gcC>gcT	p.A2018A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2018					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCTCCCGGGCAGCAAGAA	0.468000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	40					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132962266	132962266	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:132962266T>C	ENST00000254624.5	+	5	642	c.417T>C	c.(415-417)cgT>cgC	p.R139R	EFR3A_ENST00000519656.1_Silent_p.R103R|EFR3A_ENST00000334503.4_Silent_p.R139R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	139						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATCACAGACGTTATGACTTTT	0.323000													12	27					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46211495	46211495	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:46211495C>T	ENST00000334344.6	+	5	633	c.461C>T	c.(460-462)tCg>tTg	p.S154L	ARID2_ENST00000422737.1_Missense_Mutation_p.S5L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	154					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACTTTAATTCGCCAAATGAT	0.343000			"""N, S, F"""		hepatocellular carcinoma								20	100					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100364866	100364866	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:100364866G>A	ENST00000273352.3	+	9	1292	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	GPR128_ENST00000475887.1_Missense_Mutation_p.D47N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D342N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGCTAAATCGGATTTTAGTCA	0.333000													25	57					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891838	167891838	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:167891838G>A	ENST00000265293.4	+	21	3523	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.Q1013Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1007	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AATTGACCCAGGAGATCTCGG	0.607000													27	61					0	0	1	0	0
MZB1	51237	broad.mit.edu	37	5	138725399	138725399	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:138725399G>A	ENST00000302125.8	-	1	204	c.147C>T	c.(145-147)cgC>cgT	p.R49R	MZB1_ENST00000412103.2_5'UTR|MZB1_ENST00000457570.2_Silent_p.R49R	NM_016459.3	NP_057543.2	Q8WU39	PERP1_HUMAN	marginal zone B and B1 cell-specific protein	49					apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding										AGGCATCACAGCGCAGGTGAG	0.637000													8	16					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35089104	35089104	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35089104C>T	ENST00000378617.3	-	11	3649	c.3255G>A	c.(3253-3255)ctG>ctA	p.L1085L	PIGO_ENST00000341666.3_Silent_p.L1085L|PIGO_ENST00000361778.2_Silent_p.L668L|PIGO_ENST00000298004.5_Silent_p.L668L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1085					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGCTGGGCCAGAAATAGCT	0.537000													7	250					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023970	6023970	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:6023970G>A	ENST00000330728.4	-	1	454	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGATGGCCAGGACCTTGGGG	0.567000													42	52					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412061	43412061	+	Missense_Mutation	SNP	G	G	A	rs148103348		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43412061G>A	ENST00000310826.5	-	3	2327	c.2144C>T	c.(2143-2145)cCa>cTa	p.P715L	ZBTB21_ENST00000398511.3_Missense_Mutation_p.P715L|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P715L|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GTTTTCTACTGGACTTGCAAG	0.478000													120	296					0	0	1	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847210	32847210	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:32847210C>T	ENST00000420261.1	-	0	415																											CTTTTTTTCTCGTTCTTCAGG	0.418000													9	30					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730315	80730315	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:80730315G>A	ENST00000458043.2	+	39	4702	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1554K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCTCATATCGAAAAATGTTC	0.333000													19	44					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971519	55971519	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:55971519C>T	ENST00000389286.4	-	7	1145	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	366	Ig-like 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCGAATGTATCTTCCTTCCAT	0.383000													23	39					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573698	154573698	+	Nonsense_Mutation	SNP	G	G	A	rs121912421		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154573698G>A	ENST00000368474.4	-	2	1619	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ADAR_ENST00000368471.3_Nonsense_Mutation_p.R179*|ADAR_ENST00000292205.5_Nonsense_Mutation_p.R517*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	474					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGATGGCTCGAAACTCACCT	0.527000													87	68					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503583	40503583	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:40503583G>A	ENST00000589109.1	-	4	551	c.380C>T	c.(379-381)cCc>cTc	p.P127L	RIT2_ENST00000282028.4_Missense_Mutation_p.P127L|RIT2_ENST00000590910.1_Missense_Mutation_p.P148S|RIT2_ENST00000326695.5_Missense_Mutation_p.P127L	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	127					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCACCAGGGGAATTTCATA	0.478000													128	261					0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45406309	45406309	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:45406309C>T	ENST00000426677.2	+	9	1149	c.969C>T	c.(967-969)atC>atT	p.I323I	TOMM40_ENST00000252487.5_Silent_p.I323I|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.I323I	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	323					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GCAACTGGATCGTGGGTGCCA	0.587000													42	60					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72865359	72865359	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:72865359C>T	ENST00000296792.4	+	5	661	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	UTP15_ENST00000508491.1_Missense_Mutation_p.H117Y|UTP15_ENST00000543251.1_5'UTR	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	136					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGACAAATATCACGTGGTCTC	0.328000													38	62					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65377020	65377020	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:65377020C>T	ENST00000330909.8	-	14	2212	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	MAGI1_ENST00000483466.1_Missense_Mutation_p.R738K|MAGI1_ENST00000497477.2_Missense_Mutation_p.R738K|MAGI1_ENST00000402939.2_Missense_Mutation_p.R738K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	738					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGTCTTTCCTTTCCAGTGG	0.493000													29	47					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75620596	75620596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:75620596G>A	ENST00000423381.1	-	3	335	c.212C>T	c.(211-213)cCa>cTa	p.P71L	CAMK2G_ENST00000444854.2_Missense_Mutation_p.P71L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P71L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P71L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P71L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000472912.1_5'UTR	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	71	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ACCGATGTTTGGATGTTTCAG	0.443000													44	95					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110035	98110035	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98110035C>T	ENST00000383695.1	+	1	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TCAAATCAATCATTTTTTCTG	0.368000													60	98					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884683	23884683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:23884683C>T	ENST00000355349.3	-	36	5352	c.5190G>A	c.(5188-5190)atG>atA	p.M1730I	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1730					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGTCAGCATCCATCTTCTTCT	0.542000													44	87					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11625030	11625030	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:11625030G>A	ENST00000270517.7	-	3	238	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.R35C|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.R35C	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	35					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGGAGCCGGCGAGGGACCTGG	0.677000													11	20					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													4	68					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36763108	36763108	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:36763108C>T	ENST00000416516.2	-	3	1985	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	499	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGTCCAAAATCAGCCAATTTC	0.403000													44	77					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331144	40331144	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40331144G>A	ENST00000221801.3	-	3	306	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	65	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCACCAGAATGGAAGCCTCCA	0.577000													32	278					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408257	110408257	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:110408257G>A	ENST00000378402.5	+	11	917	c.811_splice	c.e11-1	p.E271_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	271	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTCCCCCAGAGGTCACCATGA	0.393000										HNSCC(38;0.096)			4	12					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97023727	97023727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:97023727G>A	ENST00000329399.6	-	4	535	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	143					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTGTTGTACTGGTTTGTGATG	0.567000													30	54					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997283	146997283	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:146997283G>A	ENST00000361727.3	+	9	1915	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	467	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTAGCCAAGGAAAATTTTGC	0.413000										HNSCC(39;0.1)			44	146					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427427	80427427	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:80427427G>A	ENST00000265361.3	-	11	1673	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.P371L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.P389L|SEMA3C_ENST00000536800.1_Missense_Mutation_p.P223L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	371	Sema.				immune response|response to drug	membrane	receptor activity	p.P371L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGAGGATATGGAATTCTGCC	0.383000													41	110					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142881	115142881	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115142881C>T	ENST00000393274.1	-	15	2674	c.2049G>A	c.(2047-2049)cgG>cgA	p.R683R	DENND2C_ENST00000393276.3_Silent_p.R626R|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	683	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCACAGACCCGGATGAGAT	0.418000													32	49					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905628	50905628	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50905628C>T	ENST00000440232.2	+	6	809	c.756C>T	c.(754-756)atC>atT	p.I252I	POLD1_ENST00000599857.1_Silent_p.I252I|POLD1_ENST00000595904.1_Silent_p.I252I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	252					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACTTTGAGATCCGGTACGGCC	0.687000								DNA polymerases (catalytic subunits)					21	41					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20487000	20487000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:20487000C>T	ENST00000346618.3	+	5	1031	c.965C>T	c.(964-966)cCa>cTa	p.P322L	E2F3_ENST00000535432.1_Missense_Mutation_p.P191L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	322	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AAAGCCCCTCCAGAAACAAGA	0.388000													9	133					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533591	63533591	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:63533591G>A	ENST00000307078.5	-	6	1876	c.1563C>T	c.(1561-1563)caC>caT	p.H521H	AXIN2_ENST00000375702.5_Silent_p.H521H	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	521					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGACGGCATGGTGGTGGATGT	0.652000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				41	143					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	761650	761650	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:761650G>A	ENST00000215582.6	+	4	2040	c.1937G>A	c.(1936-1938)gGt>gAt	p.G646D		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCCTCGGACGGTATCAACTCA	0.602000													35	58					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75834000	75834000	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:75834000G>A	ENST00000322507.8	-	41	7004	c.6695C>T	c.(6694-6696)tCc>tTc	p.S2232F	COL12A1_ENST00000483888.2_Missense_Mutation_p.S2232F|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1068F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2232F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2232	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGCCTGTAGGAGGTGGCTGC	0.373000													26	45					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46689879	46689879	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46689879T>C	ENST00000331343.7	-	7	913	c.887A>G	c.(886-888)aAa>aGa	p.K296R	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.K296R	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	296					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GATGAAATCTTTTCTTCTCAG	0.577000													50	84					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562887	113562887	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113562887C>T	ENST00000416899.2	+	13	2331	c.2205C>T	c.(2203-2205)gaC>gaT	p.D735D	MUSK_ENST00000374448.4_Silent_p.D743D|MUSK_ENST00000189978.5_Silent_p.D743D			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	743	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AAATTGCCGACTTTGGCCTCT	0.483000													93	207					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553723	39553723	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39553723G>A	ENST00000251645.2	-	1	121	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	23	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGCAGCTGGGGGGCACGCAGG	0.662000													33	55					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47614923	47614923	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47614923C>T	ENST00000371917.4	+	25	3313	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1105					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTGGCTTCCCCCCACCATCC	0.498000													54	87					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021982	34021982	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:34021982C>T	ENST00000374372.1	-	4	1734	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	GDF5_ENST00000374369.3_Missense_Mutation_p.D411N|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S9F			P43026	GDF5_HUMAN	growth differentiation factor 5	411					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGCCCATGTCCTTGAAGTTG	0.627000													76	127					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559958	33559958	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:33559958C>T	ENST00000228567.3	-	3	1139	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SYT10_ENST00000535526.1_Silent_p.K100K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	281	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGAAATTTCTTTTTCCTAT	0.358000													51	46					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129035	20129035	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:20129035C>T	ENST00000334554.7	+	9	1248	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ZDHHC8_ENST00000320602.7_Silent_p.F277F|ZDHHC8_ENST00000405930.3_Silent_p.F369F|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	369						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					AGGTGCCCTTCTGTGGACCAG	0.677000													14	23					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43773157	43773157	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:43773157C>T	ENST00000372476.3	+	6	906	c.827C>T	c.(826-828)tCa>tTa	p.S276L	TIE1_ENST00000538015.1_Missense_Mutation_p.S276L|TIE1_ENST00000441333.2_Missense_Mutation_p.S276L|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	276	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGGCATATCAGGCTGCCGG	0.612000													32	66					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121528	44121528	+	Silent	SNP	C	C	T	rs141122022		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:44121528C>T	ENST00000259746.9	+	21	2241	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	TMEM63B_ENST00000323267.6_Silent_p.A686A			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	686						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGGTGGTGGCCGCGCCCATCC	0.607000													57	140					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915629	48915629	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:48915629C>T	ENST00000294954.7	-	11	1328	c.1307G>A	c.(1306-1308)gGg>gAg	p.G436E	LHCGR_ENST00000344775.3_Missense_Mutation_p.G374E|LHCGR_ENST00000405626.1_Missense_Mutation_p.G409E|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	436					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCACCCACTCCCTGTCTGCCA	0.498000													4	85					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182583	133182583	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:133182583G>A	ENST00000388996.4	-	8	1653	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	KCNQ3_ENST00000519445.1_Silent_p.F411F|KCNQ3_ENST00000521134.1_Silent_p.F291F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	411					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)			CCACTTGCCTGAAGAAAGGAA	0.547000													19	52					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053173	124053173	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:124053173C>T	ENST00000360013.3	+	9	1599	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	KALRN_ENST00000460856.1_Missense_Mutation_p.S491F|KALRN_ENST00000240874.3_Missense_Mutation_p.S491F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	491					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGGGAACTCCGAATCCCTC	0.567000													9	197					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814458	242814458	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:242814458G>A	ENST00000343216.3	+	2	779	c.751G>A	c.(751-753)Gat>Aat	p.D251N		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	251						integral to membrane											CCTGTCTGGGGATTCAGTGGC	0.682000													47	63					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38502633	38502633	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:38502633G>A	ENST00000356264.2	-	10	1045	c.830C>T	c.(829-831)cCa>cTa	p.P277L	AMPH_ENST00000325590.5_Missense_Mutation_p.P277L|AMPH_ENST00000428293.2_Missense_Mutation_p.P277L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	277					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTATGATTTGGACTTGCTGT	0.552000													48	113					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316309	73316309	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:73316309G>A	ENST00000258098.6	-	2	806	c.566C>T	c.(565-567)cCc>cTc	p.P189L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	189					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTGCTGAAGGGAGACCTTGG	0.532000													118	242					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202082418	202082418	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:202082418G>A	ENST00000286186.6	+	10	1958	c.1523G>A	c.(1522-1524)aGg>aAg	p.R508K	CASP10_ENST00000272879.5_Intron|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.R465K|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.R441K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTCACACTAAGGAAAAAACTA	0.443000													76	143					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554888	32554888	+	Missense_Mutation	SNP	C	C	T	rs149675965	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:32554888C>T	ENST00000286827.3	-	16	3208	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N	TIAM1_ENST00000541036.1_Missense_Mutation_p.D853N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	913					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.D913Y(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGAGGAAATCTTTGAGCATA	0.552000													29	76					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652160	1652160	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:1652160G>A	ENST00000252804.4	-	17	3442	c.3392C>T	c.(3391-3393)cCc>cTc	p.P1131L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1131					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCTGCGAGGGCACACGCAT	0.627000													20	58					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873004	55873004	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55873004C>T	ENST00000313503.1	+	1	486	c.486C>T	c.(484-486)tcC>tcT	p.S162S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGTGGTTTCCATGAGCAGAT	0.433000										HNSCC(53;0.14)			91	205					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306717	46306717	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:46306717G>A	ENST00000397850.2	-	16	2633	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ITGB2_ENST00000397857.1_Silent_p.I727I|ITGB2_ENST00000355153.4_Silent_p.I727I|ITGB2_ENST00000397854.3_Silent_p.I670I|ITGB2_ENST00000302347.5_Silent_p.I727I|ITGB2_ENST00000397852.1_Silent_p.I727I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	727					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGCTCAGGTGGATCAGAGCCT	0.617000													31	83					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630187	11630187	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:11630187C>T	ENST00000423059.3	-	4	1604	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	451	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAGGGCCGTCTGGTTGCCGC	0.542000										HNSCC(18;0.044)			24	24					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77714746	77714746	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77714746C>T	ENST00000298351.4	+	19	1802	c.1658C>T	c.(1657-1659)gCt>gTt	p.A553V		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	553						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ATCACGGCAGCTTTACTTGGC	0.567000													6	16					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43243578	43243578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:43243578G>A	ENST00000263245.5	-	2	349	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	PACSIN2_ENST00000496919.1_5'UTR|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.L44F|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.L44F	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	44	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCAATGCAAAGGAACACTCCA	0.398000													7	43					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437268	76437268	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76437268C>T	ENST00000389840.5	-	72	11624	c.11500G>A	c.(11500-11502)Gaa>Aaa	p.E3834K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3843K|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCCATCTTTTCCTCCACGAAG	0.622000													19	62					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74290020	74290020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:74290020G>A	ENST00000262765.5	-	4	469	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	97							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGCTTGGTAGAGTCTCCGCT	0.522000													42	168					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:107845215C>T	ENST00000285311.3	-	4	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_ENST00000510463.1_Missense_Mutation_p.E180K|DKK2_ENST00000513208.1_Missense_Mutation_p.E126K	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	226	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000													64	118					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555583	179555583	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:179555583G>A	ENST00000393371.2	-	4	762	c.466C>T	c.(466-468)Cta>Tta	p.L156L	RASGEF1C_ENST00000522500.1_Silent_p.L5L|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.L156L			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	156	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTGTAGGAGCTGATGC	0.607000													14	50					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132277182	132277182	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:132277182C>T	ENST00000438378.2	+	0	2251					NR_026922.1																						AACAGCAGCTCCCCGACTGCG	0.607000													16	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571376	179571376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179571376C>T	ENST00000589042.1	-	102	29449	c.29225G>A	c.(29224-29226)gGa>gAa	p.G9742E	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9425E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8498E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9425	Ig-like 78.						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)			AACACGACCTCCTTGGTTCAG	0.443000													58	126					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600698	66600698	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:66600698C>T	ENST00000379500.2	+	1	349	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Silent_p.P94P|CMTM1_ENST00000328020.6_Silent_p.P94P|CMTM1_ENST00000528324.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	160	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TCCCACCCCCCACGCCCTCTG	0.627000													20	10					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189306	98189306	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:98189306G>A	ENST00000332650.5	+	1	983	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGAAATAGGGAAGTAATAAG	0.303000													32	53					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59623366	59623366	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59623366C>T	ENST00000257264.3	-	6	1017	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	305					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGAAGAGTCTTTGTTAATA	0.458000													31	101					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605128	37605128	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:37605128T>C	ENST00000399151.3	+	15	2462	c.2377T>C	c.(2377-2379)Tgg>Cgg	p.W793R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	793					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTTCCATCTTGGCTGAAGTC	0.517000													6	142					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691392	157691392	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:157691392C>T	ENST00000389413.3	-	11	1777	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	PTPRN2_ENST00000404321.2_Silent_p.L610L|PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000389418.4_Silent_p.L587L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	587						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GAAGAATTTTCAGTCCAGAGG	0.522000													7	419					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893206	20893206	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20893206G>A	ENST00000381552.1	+	12	2005	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G546E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G428E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G546E|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G497E			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	546					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAAGACAATGGATGTCCCCAA	0.398000													41	106					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087093	102087093	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:102087093C>T	ENST00000356387.2	+	4	594	c.359C>T	c.(358-360)cCc>cTc	p.P120L	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Missense_Mutation_p.P120L|ORAI2_ENST00000478730.1_Missense_Mutation_p.P120L|ORAI2_ENST00000403646.3_Missense_Mutation_p.P120L	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	120						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TGCATCCTGCCCAATGTGGAG	0.637000													72	197					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33777939	33777939	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:33777939G>A	ENST00000354992.2	-	10	1668	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	LARGE_ENST00000337431.2_Missense_Mutation_p.S366F|LARGE_ENST00000452586.2_Missense_Mutation_p.S165F|LARGE_ENST00000437602.2_Missense_Mutation_p.S366F|LARGE_ENST00000402320.1_Missense_Mutation_p.S366F|LARGE_ENST00000397394.2_Missense_Mutation_p.S366F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	366					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCACTGCTCGGAGCGGGTGTG	0.562000													38	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045976	9045976	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9045976C>T	ENST00000397910.4	-	5	35858	c.35655G>A	c.(35653-35655)gaG>gaA	p.E11885E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11887	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						TCGTGCTGGTCTCTGCTGAAG	0.502000													55	134					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271395	59271395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59271395C>T	ENST00000313253.1	+	1	347	c.347C>T	c.(346-348)tCt>tTt	p.S116F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTCTCTCTCTGTGATGGCG	0.488000													53	159					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35046686	35046686	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:35046686C>T	ENST00000290374.4	-	1	480	c.4G>A	c.(4-6)Ggg>Agg	p.G2R		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	2					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTCCATTCCCCCATCGCTGTG	0.667000													22	69					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411763	79411763	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:79411763C>T	ENST00000307745.7	+	12	2582	c.2582C>T	c.(2581-2583)cCc>cTc	p.P861L																								GGCCCTGTGCCCTCTGTCTTC	0.716000													19	74					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427512	135427512	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:135427512G>A	ENST00000394143.1	+	6	1938	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	GPR112_ENST00000412101.1_Silent_p.S344S|GPR112_ENST00000287534.4_Silent_p.S486S|GPR112_ENST00000394141.1_Silent_p.S344S|GPR112_ENST00000370652.1_Silent_p.S549S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	549					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCCATGTCGAAAGAGACCT	0.433000													45	19					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17732644	17732644	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:17732644T>A	ENST00000428389.2	-	38	4502	c.4503A>T	c.(4501-4503)gaA>gaT	p.E1501D	UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1413D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1413D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1413D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1413	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCATTACCTTTTCTAATCCCT	0.557000													5	142					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171208	150171208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150171208G>A	ENST00000307271.3	+	4	1365	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	264						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGTGCAGCAGGAAACAGCATT	0.532000													34	142					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080120	44080120	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:44080120G>A	ENST00000378832.1	+	13	1551	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	499							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACATTTGAAGAAGAACGGCT	0.527000													64	151					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972063	56972063	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56972063G>A	ENST00000591790.1	-	3	1583	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ZNF667_ENST00000292069.6_Missense_Mutation_p.S52L|ZNF667_ENST00000504904.3_Missense_Mutation_p.S52L|ZNF667_ENST00000342634.3_Missense_Mutation_p.S145L			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S52L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACCAAGCGAGACCAGGTT	0.502000													35	68					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49869456	49869456	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:49869456G>A	ENST00000331456.2	-	11	1043	c.930C>T	c.(928-930)ttC>ttT	p.F310F	TRAIP_ENST00000469027.1_Silent_p.F155F	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	310	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TATCATCACGGAAGGATGGCC	0.547000													33	84					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201182474	201182474	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:201182474G>A	ENST00000335211.4	+	12	8583	c.8453G>A	c.(8452-8454)aGg>aAg	p.R2818K	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGGAGCAGGTCTCAGGCA	0.627000													12	26					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66928608	66928608	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:66928608T>C	ENST00000269080.2	-	6	755	c.618A>G	c.(616-618)ggA>ggG	p.G206G	ABCA8_ENST00000430352.2_Silent_p.G206G|ABCA8_ENST00000586539.1_Silent_p.G206G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATATTTTTTCCAGTAACTG	0.343000													7	147					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114963	23114963	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:23114963C>T	ENST00000390313.2	+	0	244																											GATCCCTGAGCGATTCTCTGG	0.567000													20	52					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58265460	58265460	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:58265460A>T	ENST00000317178.5	+	3	1225	c.962A>T	c.(961-963)gAa>gTa	p.E321V	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGACCTTATGAATGTGACGAA	0.443000													42	106					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175323599	175323599	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:175323599C>T	ENST00000367674.1	-	18	4018	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	TNR_ENST00000263525.2_Missense_Mutation_p.D1104N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1104	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCGTGTAGTCTGTGTTCTCC	0.562000													51	64					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175806	159175806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:159175806G>A	ENST00000537147.1	+	3	1420	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DARC_ENST00000368121.2_Missense_Mutation_p.G195R|DARC_ENST00000368122.2_Missense_Mutation_p.G193R			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	193					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGCTTCTGGTGGACTCTGCAC	0.577000													41	33					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395820	156395820	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:156395820C>T	ENST00000461166.1	+	2	922	c.334C>T	c.(334-336)Cct>Tct	p.P112S	TIPARP_ENST00000486483.1_Missense_Mutation_p.P112S|TIPARP_ENST00000295924.7_Missense_Mutation_p.P112S|TIPARP_ENST00000542783.1_Missense_Mutation_p.P112S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	112							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTTCTGATTCCTGATAGGAC	0.443000													10	174					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829870	100829870	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100829870C>T	ENST00000358544.2	+	45	8386	c.8275C>T	c.(8275-8277)Cgg>Tgg	p.R2759W	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2734W	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2759					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTGTAGTTCGGGAACATTT	0.418000													25	130					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887952	52887952	+	Silent	SNP	C	C	T	rs77886189		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52887952C>T	ENST00000422689.2	+	4	1134	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	373					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATCAAAGAATCCATACTGGAG	0.398000													16	34					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031949	26031949	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:26031949G>T	ENST00000244661.2	-	1	339	c.340C>A	c.(340-342)Cat>Aat	p.H114N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	114					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CGCTTAGCATGGATGGCGCAA	0.517000													43	144					2.95478e-19	2.98366e-19	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10417157	10417157	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:10417157C>T	ENST00000397077.1	-	10	1813	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	ATP2B2_ENST00000352432.4_Missense_Mutation_p.G458E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G444E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G413E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G458E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	458					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGAGGGAGCCCCTCGGGCAC	0.627000													31	55					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98211496	98211496	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:98211496G>A	ENST00000430669.2	-	22	4046	c.3461C>T	c.(3460-3462)tCc>tTc	p.S1154F	PTCH1_ENST00000375274.2_Missense_Mutation_p.S1219F|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1220F|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1069F|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1154F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1069F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1069F			Q13635	PTC1_HUMAN	patched 1	1220					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGAGTCGGAGGAATCAGACCC	0.687000													8	13					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507403	74507403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:74507403C>T	ENST00000354431.4	-	7	1403	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.M404I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	404										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						AAAACTCTTTCATACTCCGCT	0.353000													45	86					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057850	63057850	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:63057850C>T	ENST00000332793.6	+	1	215	c.213C>T	c.(211-213)gcC>gcT	p.A71A	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.A19A|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	71						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGAAGATGCCCTCTTGAGAA	0.488000													41	107					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966368	25966368	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:25966368G>A	ENST00000435504.4	-	13	3131	c.2838C>T	c.(2836-2838)atC>atT	p.I946I	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Silent_p.I918I|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTAGCAGGGATACTAGAGG	0.453000													119	256					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462278	112462278	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:112462278G>A	ENST00000297145.4	-	5	904	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	247										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAATAAGAAAGAAGGAGAGAG	0.398000													21	73					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729593	51729593	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51729593C>T	ENST00000436584.2	+	3	400	c.345C>T	c.(343-345)atC>atT	p.I115I	CD33_ENST00000391796.3_Silent_p.I242I|CD33_ENST00000262262.4_Silent_p.I242I|CD33_ENST00000421133.2_Silent_p.I115I			P20138	CD33_HUMAN	CD33 molecule	242	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAACTGGTATCTTTCCAGGAG	0.507000													45	72					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066748	145066748	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145066748C>T	ENST00000313269.5	+	6	1216	c.938C>T	c.(937-939)gCc>gTc	p.A313V	GRINA_ENST00000395068.4_Missense_Mutation_p.A313V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	313						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCGTGTACGCCTCACTGGGC	0.612000													23	43					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758782	55758782	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55758782C>T	ENST00000395863.3	-	4	1459	c.954G>A	c.(952-954)gtG>gtA	p.V318V	BMP7_ENST00000450594.2_Silent_p.V318V|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	318					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCATACCTGCCACGTTGGCCA	0.632000													61	86					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61693755	61693755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:61693755C>T	ENST00000423902.2	+	3	2341	c.1862C>T	c.(1861-1863)cCt>cTt	p.P621L	CHD7_ENST00000525508.1_Missense_Mutation_p.P621L|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	621	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GATGACTTCCCTGGTGGGGTA	0.398000													8	19					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109507872	109507872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:109507872C>T	ENST00000356711.2	+	11	1390	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q422*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q422*	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	422	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTATGAGATTCAGAAGCGCTT	0.483000													27	20					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64666921	64666921	+	Missense_Mutation	SNP	G	G	A	rs111443323		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:64666921G>A	ENST00000498707.1	-	3	977	c.635C>T	c.(634-636)cCc>cTc	p.P212L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.P212L|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P212L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	212					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTCTCTGGGGGGCGCTGCG	0.463000													27	47					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42643919	42643919	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:42643919C>T	ENST00000372901.1	+	39	4635	c.4377C>T	c.(4375-4377)acC>acT	p.T1459T	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Silent_p.T1459T			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1459					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTTACTTACCTCATGTACAG	0.388000													7	401					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740252	76740252	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:76740252G>A	ENST00000393262.3	-	2	1596	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	505					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTGAATACGGAATATATGTT	0.343000									Bardet-Biedl syndrome				14	204					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74747081	74747081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:74747081G>A	ENST00000404568.3	-	9	1795	c.1576C>T	c.(1576-1578)Cac>Tac	p.H526Y	DQX1_ENST00000393951.2_Missense_Mutation_p.H526Y	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	526						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGAGAACTGTGGTCACCATCC	0.507000													6	215					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098971	15098971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:15098971C>T	ENST00000523376.1	+	9	1659	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	CALCB_ENST00000533448.1_Missense_Mutation_p.R122C|CALCB_ENST00000324229.6_Missense_Mutation_p.R122C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	122					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGGCAGGCGCCGCAGGGACCT	0.542000													21	16					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146216	156146216	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156146216C>T	ENST00000368285.3	+	15	1981	c.1714C>T	c.(1714-1716)Ccc>Tcc	p.P572S	SEMA4A_ENST00000368282.1_Missense_Mutation_p.P572S|SEMA4A_ENST00000368286.2_Missense_Mutation_p.P440S|SEMA4A_ENST00000368284.1_Missense_Mutation_p.P440S|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P572S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	572					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGGCTGTCCCCAACTCCAT	0.522000													44	32					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890526	15890526	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:15890526G>A	ENST00000587443.2	-	0	271					NR_033864.1																						CACTCACGAGGTCCTGGTTGA	0.562000													19	29					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170679	87170679	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87170679G>A	ENST00000265724.3	-	19	2730	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	ABCB1_ENST00000543898.1_Silent_p.F707F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	771	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTACCTGAAGGAAAAATGTAA	0.299000													36	75					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	433444	433444	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:433444G>A	ENST00000256509.2	+	23	3520	c.2878G>A	c.(2878-2880)Gga>Aga	p.G960R	CHL1_ENST00000397491.2_Missense_Mutation_p.G944R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	944	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAATTAAATGGAAACTTAAC	0.323000													41	74					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139993179	139993179	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:139993179G>A	ENST00000379550.1	-	5	572	c.367C>T	c.(367-369)Cct>Tct	p.P123S	ELF2_ENST00000358635.3_Missense_Mutation_p.P63S|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000394235.2_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.P63S|ELF2_ENST00000510408.1_Intron			Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	123					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ACACAAGGAGGAACAAACACT	0.393000													6	113					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087052	49087052	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:49087052G>A	ENST00000261900.3	-	9	2167	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	649					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GTCGTGTTGTGACCATTGGCC	0.517000													24	75					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480958	57480958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:57480958G>A	ENST00000371236.2	-	12	1305	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	DAB1_ENST00000414851.2_Missense_Mutation_p.P330S|DAB1_ENST00000420954.2_Missense_Mutation_p.P346S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P348S|DAB1_ENST00000439789.2_Missense_Mutation_p.P262S|DAB1_ENST00000371231.1_Missense_Mutation_p.P381S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	381					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGAGTGGCAGGAAAGAGACCC	0.642000													48	92					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67771771	67771771	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67771771C>T	ENST00000396596.1	+	17	1660	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	SGK3_ENST00000520976.1_Silent_p.F450F|SGK3_ENST00000521198.2_Silent_p.F482F|SGK3_ENST00000522398.1_Silent_p.F482F|SGK3_ENST00000345714.4_Silent_p.F482F|C8orf44-SGK3_ENST00000519289.1_Silent_p.F482F	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	482	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGATGCATTCGTTGGTTTCT	0.383000													56	102					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128759	89128759	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89128759G>A	ENST00000286614.6	-	6	1341	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	354	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATCTCACGACGAAGAATAGCT	0.433000													28	61					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252394	145252394	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:145252394C>T	ENST00000377976.1	-	1	137	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	46										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTATTCCTCCTTTGGTGACT	0.498000													52	146					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112097100	112097100	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:112097100C>T	ENST00000429071.1	+	4	647	c.416C>T	c.(415-417)gCc>gTc	p.A139V	IFRD1_ENST00000535603.1_Intron|IFRD1_ENST00000403825.3_Intron|IFRD1_ENST00000005558.4_Intron			O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	139					multicellular organismal development|myoblast cell fate determination		binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AAAGGTAATGCCCTTATTTTT	0.353000													23	95					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004230	71004230	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:71004230G>A	ENST00000357250.6	-	5	494	c.336C>T	c.(334-336)tcC>tcT	p.S112S	COL9A1_ENST00000370496.3_Silent_p.S112S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	112	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCGTCAAGAAGGAGTATTCTT	0.393000													67	148					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144877674	144877674	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:144877674G>A	ENST00000356994.2	-	25	3636	c.3630C>T	c.(3628-3630)ccC>ccT	p.P1210P	SCRIB_ENST00000377533.3_Silent_p.P1129P|SCRIB_ENST00000320476.3_Silent_p.P1210P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1210	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGCCGCAAAGGGGTTGGCAA	0.662000													16	41					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65146800	65146800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:65146800C>T	ENST00000381210.3	-	11	1033	c.923G>A	c.(922-924)gGa>gAa	p.G308E	TECRL_ENST00000507440.1_Missense_Mutation_p.G308E	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	308					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATCCATGATCCAATCTGTTA	0.279000													16	45					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77755871	77755871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:77755871G>A	ENST00000407578.2	-	33	5172	c.4906C>T	c.(4906-4908)Ccc>Tcc	p.P1636S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P1598S|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P1598S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCAAAAGGGGAAAACGATGA	0.388000													15	109					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220315951	220315951	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:220315951G>A	ENST00000312358.7	+	5	2339	c.2207G>A	c.(2206-2208)gGg>gAg	p.G736E	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.G632E	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	736	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGGCACCAGGGGCAGATGTG	0.627000													67	121					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89198753	89198753	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:89198753C>T	ENST00000286614.6	-	3	637	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	119					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAATGCATATCGCTTTCGACG	0.393000													90	205					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029202	25029202	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25029202G>A	ENST00000381989.3	-	22	2816	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	904	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACCCACCAAGGACAGCGCATG	0.512000													11	297					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835162	61835162	+	Missense_Mutation	SNP	G	G	A	rs148806240		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:61835162G>A	ENST00000280772.1	-	37	5668	c.5477C>T	c.(5476-5478)tCt>tTt	p.S1826F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1826	Ser-rich.				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						ATTGACTACAGAGTATACTGG	0.403000													66	154					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370573	56370573	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56370573C>T	ENST00000301295.6	+	3	2236	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S605F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S530F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	605							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)		CTCTGTTTTTCCGTTCAAAAT	0.413000													39	82					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74354356	74354356	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:74354356G>A	ENST00000226355.3	+	7	816	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	241	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATATATTGCGATACTCAGTC	0.338000													28	71					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634648	79634648	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:79634648C>T	ENST00000376708.1	+	1	78	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	26					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCATGGCAATCCAGCACTCGG	0.627000													20	34					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202418131	202418131	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:202418131C>T	ENST00000406302.3	+	13	1835	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S561F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	561					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCTCACAAATCCCAGGCCGAC	0.468000													67	52					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926397	106926397	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:106926397C>T	ENST00000434710.1	-	0	224																											GTATAATCATCAAAGGTGAAT	0.557000													66	330					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722096	53722096	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:53722096C>T	ENST00000536324.2	-	3	1413	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	SP7_ENST00000537210.2_Missense_Mutation_p.G359E|SP7_ENST00000303846.3_Missense_Mutation_p.G377E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCTGGTTCTCCATGGGTGCG	0.667000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	34					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591707	11591707	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11591707C>T	ENST00000294484.6	+	17	3453	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	PTCHD2_ENST00000389575.3_Silent_p.S1105S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1105					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCAGCTGTCCCACGGGGCAG	0.662000													21	43					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79799971	79799971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:79799971C>T	ENST00000335016.5	+	14	2043	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P626L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	626						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						GGGTGGAATCCTTTTGGAGAG	0.373000													20	48					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135942	55135942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:55135942C>T	ENST00000314706.3	+	1	583	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATCAGCTCCCTTTCTGTGG	0.428000													11	207					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491845	100491845	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100491845G>A	ENST00000302913.4	-	2	147	c.9C>T	c.(7-9)ccC>ccT	p.P3P	ACHE_ENST00000428317.1_Silent_p.P3P|ACHE_ENST00000411582.1_Silent_p.P3P|ACHE_ENST00000412389.1_Silent_p.P3P|ACHE_ENST00000419336.2_Silent_p.P3P|ACHE_ENST00000241069.5_Silent_p.P3P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	3					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GACACTGCGGGGGCCTCATGG	0.652000													5	11					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52841061	52841061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:52841061G>A	ENST00000449956.2	+	19	2207	c.2201G>A	c.(2200-2202)tGg>tAg	p.W734*	ITIH3_ENST00000416872.2_Nonsense_Mutation_p.W542*	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	734					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATCACCCTGTGGAACAGGGCC	0.552000													4	12					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451158	55451158	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55451158G>A	ENST00000446217.1	-	6	1515	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	NLRP7_ENST00000448121.2_Silent_p.A343A|NLRP7_ENST00000328092.5_Silent_p.A343A|NLRP7_ENST00000340844.2_Silent_p.A343A|NLRP7_ENST00000590030.1_Silent_p.A343A|NLRP7_ENST00000588756.1_Silent_p.A343A|NLRP7_ENST00000592784.1_Silent_p.A343A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	343	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGCACGCATGGCTTGGTCCT	0.612000													6	77					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487828	21487828	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:21487828G>A	ENST00000313654.9	+	54	7185	c.6944G>A	c.(6943-6945)aGa>aAa	p.R2315K	LAMA3_ENST00000269217.6_Missense_Mutation_p.R706K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2259K|LAMA3_ENST00000587184.1_Missense_Mutation_p.R650K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2315	Domain II and I.				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)	GATGTGGAAAGAATTAAGGAC	0.488000													59	105					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523811	160523811	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:160523811C>G	ENST00000368054.3	-	3	549	c.514G>C	c.(514-516)Gga>Cga	p.G172R	CD84_ENST00000368051.3_Missense_Mutation_p.G172R|CD84_ENST00000534968.1_Missense_Mutation_p.G58R|CD84_ENST00000368048.3_Missense_Mutation_p.G172R|CD84_ENST00000311224.4_Missense_Mutation_p.G172R|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	172	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCTCTTCTCCCAGGGGACTC	0.458000													36	121					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10791929	10791929	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:10791929C>T	ENST00000313243.2	-	10	1677	c.1295G>A	c.(1294-1296)aGg>aAg	p.R432K	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R432K|MAK_ENST00000354489.2_Missense_Mutation_p.R432K|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R432K			P20794	MAK_HUMAN	male germ cell-associated kinase	432					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATCTTTTTTCCTTTTTTCTTT	0.348000													36	77					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:55638912C>T	ENST00000370830.3	-	4	1660	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000													6	251					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	434755	434755	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:434755G>A	ENST00000264554.6	-	8	1063	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	355	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGCCTGGAGTCCACTAG	0.687000													23	41					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447309	43447309	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:43447309G>A	ENST00000395891.1	+	8	1385	c.780G>A	c.(778-780)gtG>gtA	p.V260V	HECW1_ENST00000453890.1_Silent_p.V260V|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAACACCGTGAACCCCATCT	0.547000													24	47					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525591	76525591	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76525591C>T	ENST00000389840.5	-	22	3594	c.3470G>A	c.(3469-3471)gGg>gAg	p.G1157E	DNAH17_ENST00000585328.1_Missense_Mutation_p.G1154E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCTCCTCCCCGTAGGTCTT	0.602000													42	184					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022214	120022214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:120022214G>A	ENST00000379551.2	+	3	1013	c.656G>A	c.(655-657)gGa>gAa	p.G219E	PRR16_ENST00000446965.1_Missense_Mutation_p.G172E|PRR16_ENST00000407149.2_Missense_Mutation_p.G242E|PRR16_ENST00000505123.1_Missense_Mutation_p.G172E	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	242	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACCCACCGGGAAAGATTCCT	0.502000													33	60					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5617155	5617155	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:5617155C>T	ENST00000310917.2	-	16	3314	c.2583G>A	c.(2581-2583)gtG>gtA	p.V861V	EVC2_ENST00000344938.1_Silent_p.V941V|EVC2_ENST00000344408.5_Silent_p.V941V	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	941						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGACCTTTTCCACCAGGTCTT	0.517000													7	64					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303676	134303676	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:134303676C>T	ENST00000344129.2	-	2	347	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CXorf48_ENST00000276241.6_Missense_Mutation_p.G41R	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	41										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTGACAACTCCCTGCACAGTT	0.418000													19	9					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188332479	188332479	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:188332479C>T	ENST00000233156.3	-	7	1103		c.e7+1		AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Splice_Site	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATCTTCTATACCTTTTTTACA	0.308000													39	85					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33375104	33375104	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:33375104C>T	ENST00000303296.4	+	17	3943	c.3638C>T	c.(3637-3639)cCa>cTa	p.P1213L	HIPK3_ENST00000525975.1_Missense_Mutation_p.P1192L|HIPK3_ENST00000456517.1_Missense_Mutation_p.P1192L|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1192L	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1213					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGCCAGTATCCATATATGTGA	0.353000													24	78					0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284190	47284190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47284190C>T	ENST00000511277.1	-	4	318	c.139G>A	c.(139-141)Gat>Aat	p.D47N	GNGT2_ENST00000511673.1_Missense_Mutation_p.D47N|GNGT2_ENST00000503070.1_Missense_Mutation_p.D47N|GNGT2_ENST00000515635.1_Missense_Mutation_p.D47N|GNGT2_ENST00000507680.1_Missense_Mutation_p.D47N|GNGT2_ENST00000300406.2_Missense_Mutation_p.D47N	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	47					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AGAAAAGGATCGTTTCCTGCT	0.488000													40	114					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109898085	109898085	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:109898085A>T	ENST00000256637.6	-	4	505	c.447T>A	c.(445-447)gaT>gaA	p.D149E	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Missense_Mutation_p.D13E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	149					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCTTCCCATAATCCTCACTGA	0.408000													23	58					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366371	80366371	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:80366371G>A	ENST00000265080.4	+	4	671	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	202					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAAGAAGACGAAGATCCAGA	0.428000													54	85					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16001145	16001145	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:16001145G>A	ENST00000221700.5	-	6	719	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CYP4F2_ENST00000592328.1_Silent_p.F208F|CYP4F2_ENST00000011989.7_Silent_p.F59F	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	208					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCAAAGCTGAAGACACATT	0.532000													40	88					0	0	1	0	0
ACOT1	641371	broad.mit.edu	37	14	74008253	74008253	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:74008253G>A	ENST00000311148.4	+	2	822	c.514G>A	c.(514-516)Gag>Aag	p.E172K	HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.E172K|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TGGCCTGCTGGAGTATCGGGC	0.502000													95	47					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62465628	62465628	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:62465628G>A	ENST00000541428.1	-	20	1661	c.1501C>T	c.(1501-1503)Cac>Tac	p.H501Y	ASPH_ENST00000379454.4_Missense_Mutation_p.H530Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	530					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCCCCCAGGTGGAAATAAAAT	0.403000													89	262					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925501	156925501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156925501G>A	ENST00000368194.3	-	20	2801	c.1762C>T	c.(1762-1764)Caa>Taa	p.Q588*	ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.Q548*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	548					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|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)					TCACTGCTTTGAGAAGAGCTT	0.502000													28	379					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622307	112622307	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:112622307G>A	ENST00000550722.1	-	61	10420	c.10025C>T	c.(10024-10026)tCc>tTc	p.S3342F	HECTD4_ENST00000377560.5_Missense_Mutation_p.S3316F|HECTD4_ENST00000430131.2_Missense_Mutation_p.S3066F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGGCTGGTGGAGGCGGAGGC	0.667000													9	20					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658185	72658185	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72658185G>A	ENST00000425256.1	-	0	1726					NR_002164.1																						gatttcggatgaattatacaa	0.507000													59	225					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502756	12502756	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:12502756G>A	ENST00000419318.1	-	4	1109	c.360C>T	c.(358-360)taC>taT	p.Y120Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Y152Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTGAGTTGTGGTAACTGAAGG	0.413000													62	132					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976497	20976497	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20976497G>A	ENST00000261383.3	-	53	8708	c.8709C>T	c.(8707-8709)ccC>ccT	p.P2903P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2903	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P2903P(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCCCGTTTGGGAGCCACCA	0.587000													17	254					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30951579	30951579	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:30951579C>T	ENST00000311813.4	+	1	110	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	AQP1_ENST00000509504.1_Intron|AQP1_ENST00000434909.2_Intron	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GGCCGAGTTCCTGGCCACGAC	0.607000													34	59					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960337	183960337	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183960337G>A	ENST00000455059.1	-	9	1616	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	ALG3_ENST00000418734.2_Missense_Mutation_p.P372S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.P380S|ALG3_ENST00000397676.3_Missense_Mutation_p.P428S			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	428					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCTCTTGGGGAAAGGCTGC	0.602000													11	27					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893161	20893161	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:20893161C>T	ENST00000381552.1	+	12	1960	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S531F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S413F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S531F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S482F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	531					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GCTTCTAAATCCGGAAATTCC	0.358000													34	90					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16295860	16295860	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:16295860T>A	ENST00000205557.7	-	9	1203	c.1174A>T	c.(1174-1176)Aag>Tag	p.K392*	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	392	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGCTCACCTTTCTGTACACC	0.562000													8	143					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161741	8161741	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:8161741C>T	ENST00000343202.4	-	2	190		c.e2-1		RIC3_ENST00000419822.2_Splice_Site|RIC3_ENST00000425599.2_Splice_Site|RIC3_ENST00000309737.6_Splice_Site|RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCCAATTTTCCTGAGAAAATA	0.428000													27	20					0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95657367	95657367	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:95657367C>T	ENST00000370203.4	+	7	1026	c.735C>T	c.(733-735)atC>atT	p.I245I	RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	245	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TCAAAGTCATCTCTCACATCA	0.358000													9	119					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803118	31803118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:31803118C>T	ENST00000261592.5	-	1	397	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.E34K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	34						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACGATCCGTTCGTATTTTTTA	0.567000													34	83					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46985978	46985978	+	Silent	SNP	C	C	T	rs17853110		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:46985978C>T	ENST00000306503.5	+	2	481	c.309C>T	c.(307-309)acC>acT	p.T103T	SOCS5_ENST00000394861.2_Silent_p.T103T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	103					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			p.T103T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTTGTGTTACCCCAGGAACAA	0.418000													25	63					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289648	46289648	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46289648G>A	ENST00000270223.6	-	3	1151	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	DMWD_ENST00000377735.3_Missense_Mutation_p.S369F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	369					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTTGACCCAGGACTTGTGGCC	0.672000													5	188					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416307	124416307	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:124416307C>T	ENST00000409039.3	+	74	12712	c.12687C>T	c.(12685-12687)tcC>tcT	p.S4229S	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4229					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)		CAGGACTCTCCCCCACTTCGG	0.522000													35	92					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370421	97370421	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:97370421G>A	ENST00000457909.1	+	0	5669							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCCAGCCCCAGGAGACTAATT	0.488000													19	61					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341234	14341234	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:14341234C>T	ENST00000571589.1	+	12	2289	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.P695L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	695	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGGGACAGCCACCGCCTGCT	0.577000													13	63					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982425	75982425	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:75982425C>T	ENST00000308508.5	-	3	1073	c.981G>A	c.(979-981)ctG>ctA	p.L327L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	327	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCTGCATCCAGCCCCCCGA	0.627000													10	31					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025110	130025110	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:130025110C>T	ENST00000011292.3	+	8	1061	c.911C>T	c.(910-912)tCc>tTc	p.S304F	CPA1_ENST00000484324.1_Missense_Mutation_p.S216F	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	304					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCCTTCATCTCCATCCACAGC	0.527000													63	154					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141458169	141458169	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:141458169T>A	ENST00000389484.3	-	41	7420	c.6449A>T	c.(6448-6450)gAc>gTc	p.D2150V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2150	EGF-like 5.				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)		GCCACCATTGTCCCTGGCACA	0.393000										TSP Lung(27;0.18)			59	170					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370665	60370665	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:60370665C>T	ENST00000371204.3	-	7	1112	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	357					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GGCATGGACTCCCGGGCGGCT	0.502000													5	164					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982953	57982953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57982953G>A	ENST00000309433.6	+	1	737	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCCACACAGGGAAAGTGGAAA	0.453000													25	63					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225822	21225822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:21225822G>A	ENST00000233242.1	-	29	12599	c.12472C>T	c.(12472-12474)Cag>Tag	p.Q4158*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4158					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCCTTCCTGAGTCAACAGT	0.488000													55	110					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336399	147336399	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:147336399G>A	ENST00000361727.3	+	13	2614		c.e13+1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACACCCCAGGTAGGCTGAGA	0.438000										HNSCC(39;0.1)			24	60					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132932700	132932700	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:132932700C>T	ENST00000368642.4	-	8	1286	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	401										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGGACCCATCGCTGTTGTCA	0.493000													5	7					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493762	38493762	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38493762G>A	ENST00000263409.4	-	14	2173	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	LIFR_ENST00000453190.2_Missense_Mutation_p.L671F|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	671	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGTCCATAAGGCATGGTTCC	0.428000			T	PLAG1	salivary adenoma								35	230					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072874	17072874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:17072874C>T	ENST00000359963.3	-	1	826	c.567G>A	c.(565-567)tgG>tgA	p.W189*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	189					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				CCTTGATAGCCCAGCAGGCGT	0.622000													52	85					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187770	37187770	+	RNA	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37187770T>C	ENST00000425901.2	+	0	1612					NR_033753.2																						TTGAACATTCTACACCCCTGA	0.498000													57	128					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43703711	43703711	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:43703711C>T	ENST00000372806.3	+	11	1453	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	453	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCCCTGGACCCCATGATGGAG	0.517000													25	47					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128345650	128345650	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:128345650C>T	ENST00000296255.3	-	6	1110	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	RPN1_ENST00000497289.1_Silent_p.R182R|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	354					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGTCCACAAACCTCATCTTCA	0.463000			T	EVI1	AML								28	71					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025710	87025710	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:87025710G>A	ENST00000370563.3	+	2	297	c.255G>A	c.(253-255)aaG>aaA	p.K85K	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	85						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGAATTGGAAGGAAAATCCTC	0.299000													26	70					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68207275	68207275	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68207275C>T	ENST00000294304.7	+	21	4485	c.4379C>T	c.(4378-4380)tCc>tTc	p.S1460F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1460					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATGAGCTCCGTGAGCCTG	0.682000													11	15					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117020055	117020055	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:117020055T>G	ENST00000284629.2	-	10	1054	c.992A>C	c.(991-993)aAa>aCa	p.K331T		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	331	SAM.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTGTAGTTCTTTAAGAGCAGC	0.299000													6	154					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854905	116854905	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:116854905G>A	ENST00000374118.3	-	14	1437	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	533					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCCACCTGAGGCCTCAGGGT	0.652000													4	9					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874703	4874703	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4874703C>T	ENST00000399583.3	-	4	1138	c.951G>A	c.(949-951)ctG>ctA	p.L317L	RADIL_ENST00000536091.1_Silent_p.L317L|RADIL_ENST00000538469.1_Silent_p.L77L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	317	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGATGGGCTCCAGGACCAGCC	0.697000													7	16					0	0	1	0	0
JOSD2	126119	broad.mit.edu	37	19	51013604	51013604	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51013604G>A	ENST00000598418.1	-	2	338	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	JOSD2_ENST00000595669.1_Missense_Mutation_p.L29F|JOSD2_ENST00000391815.3_Missense_Mutation_p.L29F|JOSD2_ENST00000601423.1_Missense_Mutation_p.L29F	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	29	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		ACGTTGTTGAGGGCGTGGACA	0.657000													54	124					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749117	38749117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:38749117C>T	ENST00000359357.3	+	14	1830	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R526C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R743C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGCTCTATCGCCGGATAAG	0.368000													43	112					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009255	120009255	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:120009255C>T	ENST00000371311.3	-	1	524	c.270G>A	c.(268-270)gcG>gcA	p.A90A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	90										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cttcctccGTCGCGGGCCCGA	0.711000													8	33					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452438	234452438	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:234452438G>A	ENST00000366618.3	+	5	1064	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	SLC35F3_ENST00000366617.3_Missense_Mutation_p.V238M	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	238					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)			CATCGCACTGGTGGTGGCCTC	0.602000													167	176					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21008625	21008625	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:21008625C>T	ENST00000261383.3	-	44	6580	c.6581G>A	c.(6580-6582)gGa>gAa	p.G2194E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2194	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTCCTTCCTCCCCCGGGGGG	0.542000													6	138					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964063	88964063	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:88964063G>A	ENST00000333190.4	+	4	2376	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	589						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCTCTAAAGGATTGTGCTG	0.378000										HNSCC(36;0.09)			26	106					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137588685	137588685	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:137588685G>A	ENST00000274721.3	-	8	1421	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P361L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	392					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAATCAAGGGAAGCGTGCA	0.562000													9	16					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602964	138602964	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:138602964C>T	ENST00000440172.1	-	2	1456	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	KIAA1549_ENST00000422774.1_Missense_Mutation_p.D470N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D420N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	470						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAGAGAAGTCTGCTACGACG	0.483000			O	BRAF	pilocytic astrocytoma								17	70					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325748	37325748	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37325748G>A	ENST00000262825.5	+	6	834	c.617G>A	c.(616-618)aGc>aAc	p.S206N	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S206N|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S206N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S147N	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	206	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGCCCAGCAGCACCTACGTG	0.667000													33	62					0	0	1	0	0
C2orf73	129852	broad.mit.edu	37	2	54586099	54586099	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:54586099C>T	ENST00000398634.2	+	4	434	c.392C>T	c.(391-393)cCa>cTa	p.P131L	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	131										breast(2)	2						TTTTTAGTACCACTTGCCTCT	0.289000													4	6					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141622658	141622658	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141622658C>T	ENST00000442267.2	-	2	315	c.241_splice	c.e2+1	p.G81_splice		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	81						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGTTGCTTACCACAGGCGATG	0.478000													10	34					0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171573719	171573719	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:171573719G>A	ENST00000375281.3	+	2	1164	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TCTTCTGCGGGAAGAGCTTCA	0.672000													7	31					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12183950	12183950	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:12183950C>T	ENST00000256194.4	+	3	536	c.248C>T	c.(247-249)tCg>tTg	p.S83L	MICAL2_ENST00000527546.1_Missense_Mutation_p.S83L|MICAL2_ENST00000379612.3_Missense_Mutation_p.S83L|MICAL2_ENST00000537344.1_Missense_Mutation_p.S83L|MICAL2_ENST00000342902.5_Missense_Mutation_p.S83L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	83						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGAGGGAAGTCGTGCACGAAC	0.502000													28	22					0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30102222	30102222	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:30102222G>A	ENST00000553607.1	-	2	903	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TBX6_ENST00000279386.2_Silent_p.P70P|TBX6_ENST00000395224.2_Silent_p.P70P			O95947	TBX6_HUMAN	T-box 6	70					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCATGGCAGGGGGCAGAAGGG	0.667000													28	42					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36141139	36141139	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:36141139C>T	ENST00000540320.1	+	45	7554	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	NBEA_ENST00000310336.4_Silent_p.F2340F|NBEA_ENST00000537702.1_Silent_p.F133F|NBEA_ENST00000379939.2_Silent_p.F2337F|NBEA_ENST00000400445.3_Silent_p.F2340F			Q8NFP9	NBEA_HUMAN	neurobeachin	2340	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGGAAACTTCAGGGATCTAT	0.363000													10	96					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35809942	35809942	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:35809942G>A	ENST00000484764.1	-	7	1467	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000396638.2_Missense_Mutation_p.P484L			Q99932	SPAG8_HUMAN	sperm associated antigen 8	0						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTCAGAAAGGAGTCATTCT	0.502000													109	239					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166613634	166613634	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:166613634G>A	ENST00000392701.3	-	7	2090	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	GALNT3_ENST00000409882.1_Missense_Mutation_p.L177F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	439					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ACTTCTGCAAGGCGAACTTGG	0.383000													26	64					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073352	74073352	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:74073352G>A	ENST00000370367.3	+	3	476	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		TAGAAGTCCGGGAGGCCGGGA	0.662000													45	63					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98236586	98236586	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:98236586A>T	ENST00000284049.3	-	6	937	c.788T>A	c.(787-789)gTt>gAt	p.V263D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	263					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGGTTGAGGAACATCCTCTCC	0.383000													49	72					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140725	239140725	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:239140725G>A	ENST00000456601.1	+	0	401																											ATGCTGGCTGGAGAAATCCGG	0.498000													7	27					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883485	74883485	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74883485C>T	ENST00000289575.5	+	7	1238	c.843C>T	c.(841-843)ctC>ctT	p.L281L	SLCO2B1_ENST00000532236.1_Silent_p.L165L|SLCO2B1_ENST00000531756.1_Silent_p.L26L|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Silent_p.L54L|SLCO2B1_ENST00000341411.4_Silent_p.L54L|SLCO2B1_ENST00000525650.1_Silent_p.L137L|SLCO2B1_ENST00000428359.2_Silent_p.L259L	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	281					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGGGTTTCCTCATCGCTGCCG	0.562000													27	62					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43101900	43101900	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:43101900G>A	ENST00000452796.2	-	4	852	c.597C>T	c.(595-597)tcC>tcT	p.S199S	DCAKD_ENST00000342350.5_Silent_p.S199S|DCAKD_ENST00000588499.1_Silent_p.S199S			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	199	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GGTACTCCAGGGAGCGCTCCA	0.617000													33	72					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400208	47400208	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:47400208C>T	ENST00000310638.4	-	7	845	c.814G>A	c.(814-816)Gct>Act	p.A272T	CYP4A11_ENST00000371904.4_Missense_Mutation_p.A273T|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.G116D|CYP4A11_ENST00000371905.1_Missense_Mutation_p.A272T	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	272					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGTAGTTGAGCCTTCCTCAGT	0.537000													25	84					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165173235	165173235	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:165173235G>A	ENST00000342310.3	-	9	1413	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	LMX1A_ENST00000367893.4_Missense_Mutation_p.S344F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.S344F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	344						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTTACTGAGGGAGGTGTCGTC	0.517000													55	148					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828985	115828985	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:115828985C>T	ENST00000369512.2	-	3	600	c.432G>A	c.(430-432)ggG>ggA	p.G144G	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	144					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|Ras protein signal transduction	endosome|Golgi lumen	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)	TGGTCTTATCCCCAACCCACA	0.517000													30	78					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713207	70713207	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:70713207C>T	ENST00000530196.1	-	0	1311					NR_003951.1																						AGACATGATCCCTGGTTTAAG	0.438000													52	116					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15427106	15427106	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:15427106C>T	ENST00000342526.3	-	9	1051	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	294					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGACAGAAAACTTATTGAAGA	0.378000													9	138					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096285	167096285	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:167096285G>A	ENST00000361200.2	+	6	2083	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	DUSP27_ENST00000443333.1_Silent_p.E639E|DUSP27_ENST00000271385.5_Silent_p.E639E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	639					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCTGGAGGAGAGCCAGTCTA	0.637000													26	26					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152508	149152508	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:149152508C>T	ENST00000247930.4	-	2	929	c.606G>A	c.(604-606)caG>caA	p.Q202Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCTCATGGCCTGGGCCTCCA	0.602000													52	260					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423977	47423977	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:47423977G>A	ENST00000404338.3	+	1	2045	c.2045G>A	c.(2044-2046)aGa>aAa	p.R682K		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	682					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGAAGAGTAGAGAGTCCACG	0.468000													10	22					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423443	5423443	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:5423443G>A	ENST00000341928.2	-	11	1613	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	425	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGCTGGGCGATCTATCAAC	0.493000													7	120					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880874	24880874	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:24880874G>A	ENST00000396432.2	-	22	4430	c.3944C>T	c.(3943-3945)aCc>aTc	p.T1315I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T1102I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1314	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GACCATGTGGGTCATGTTGTC	0.443000													16	147					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223603	35223603	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:35223603C>T	ENST00000338513.1	+	2	845	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	224					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AAGCTCAAGCCATGTGCACAG	0.567000													36	80					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173344722	173344722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:173344722C>T	ENST00000375221.2	+	12	1812	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	ITGA6_ENST00000409532.1_Nonsense_Mutation_p.Q379*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.Q493*|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.Q537*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.Q498*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.Q498*			P23229	ITA6_HUMAN	integrin, alpha 6	537					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTCAGCCTCCAGGTTAAATC	0.378000													13	44					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488123	24488123	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:24488123G>A	ENST00000264463.4	-	12	2523	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	672					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCAGGGTGCCGATATCAAAGG	0.468000										HNSCC(23;0.051)			59	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516472	179516472	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179516472G>A	ENST00000589042.1	-	206	39608	c.39384C>T	c.(39382-39384)acC>acT	p.T13128T	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T11621T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T10694T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11481	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T10694T(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)			TAGGTGGTACGGTCACTAAAG	0.438000													21	25					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91203595	91203595	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:91203595C>T	ENST00000341233.4	-	4	522	c.132G>A	c.(130-132)gtG>gtA	p.V44V	SLC16A12_ENST00000371790.4_Silent_p.V74V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	44						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCTGGAACTCCACAAAAAAAA	0.368000													15	40					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154822	38154822	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:38154822C>T	ENST00000379747.4	-	11	1522	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	POSTN_ENST00000379749.4_Missense_Mutation_p.E469K|POSTN_ENST00000541481.1_Missense_Mutation_p.E469K|POSTN_ENST00000379743.4_Missense_Mutation_p.E469K|POSTN_ENST00000541179.1_Missense_Mutation_p.E469K|POSTN_ENST00000379742.4_Missense_Mutation_p.E469K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	469	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGAATTTTCAATGCAGACA	0.423000													62	136					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73739222	73739222	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:73739222G>A	ENST00000381166.3	+	24	3385	c.3283G>A	c.(3283-3285)Gga>Aga	p.G1095R	PAPLN_ENST00000554301.1_Silent_p.R1229R|PAPLN_ENST00000340738.5_Silent_p.R1202R|RP4-647C14.3_ENST00000556578.1_RNA|PAPLN_ENST00000427855.1_Silent_p.R1229R|PAPLN_ENST00000555445.1_Silent_p.R1213R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	876	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCAGCCCAGGGACCCTGGCA	0.557000													70	199					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917216	99917216	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:99917216G>A	ENST00000332397.6	+	9	1559	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D82N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	459										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGAGGAGGACGACGAGGCCCC	0.557000													43	206					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229300	3229300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3229300C>T	ENST00000217939.6	-	7	7098	c.6944G>A	c.(6943-6945)gGg>gAg	p.G2315E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2315	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCCCTCATCCCCACTTCGTT	0.547000													10	171					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53992098	53992098	+	Silent	SNP	G	G	A	rs146989277		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:53992098G>A	ENST00000396328.1	-	13	1853	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	WDR72_ENST00000557913.1_Silent_p.S535S|WDR72_ENST00000559418.1_Silent_p.S548S|WDR72_ENST00000360509.5_Silent_p.S538S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	538								p.S538S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGAGCCACGGAATGGTCAC	0.443000													54	106					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141622709	141622709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:141622709G>A	ENST00000442267.2	-	2	264	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	64						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TACAAGATTCGGTAAGGAGCG	0.522000													18	27					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857719	131857719	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:131857719T>C	ENST00000318080.2	-	14	2132	c.1838A>G	c.(1837-1839)gAc>gGc	p.D613G		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	613					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGCACGCATGTCCAGGAGCGC	0.672000													34	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542519	179542519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179542519C>T	ENST00000589042.1	-	146	34344	c.34120G>A	c.(34120-34122)Gaa>Aaa	p.E11374K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11057K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10130K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11057	Glu-rich.|Pro-rich.						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)			ACTTCCTCTTCCTCAGGTAGA	0.438000													87	124					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525505	61525505	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:61525505G>T	ENST00000266070.4	-	12	2939	c.2614C>A	c.(2614-2616)Caa>Aaa	p.Q872K	DIDO1_ENST00000395335.2_Missense_Mutation_p.Q872K|DIDO1_ENST00000395343.1_Missense_Mutation_p.Q872K|DIDO1_ENST00000395340.1_Missense_Mutation_p.Q872K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	872					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACAATTTTTGTTTTTTCGGA	0.507000													75	177					6.31949e-53	6.39991e-53	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35449035	35449035	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:35449035G>A	ENST00000404801.1	-	4	2110	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P508L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGAGGGTAGGCCTTTGGTT	0.502000													17	26					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:10920118C>T	ENST00000298232.7	-	18	1449	c.1082G>A	c.(1081-1083)aGc>aAc	p.S361N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341N|TPTE_ENST00000361285.4_Missense_Mutation_p.S379N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													7	120					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158922831	158922831	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:158922831C>T	ENST00000367097.3	+	13	3493	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	712					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGGTGCAGTCCCTACTGGCCA	0.572000													6	180					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291169	141291169	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:141291169G>A	ENST00000247452.3	-	3	952	c.605C>T	c.(604-606)cCt>cTt	p.P202L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	202	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTGGTCAGGGCCCACTTC	0.473000										HNSCC(46;0.14)			94	37					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624380	123624380	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:123624380G>A	ENST00000327930.2	-	1	873	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGGATTCAGAAGGGGGGTG	0.433000													48	54					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61544922	61544922	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:61544922G>A	ENST00000278836.5	+	12	1873	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	MYRF_ENST00000327797.1_Missense_Mutation_p.E218K|MYRF_ENST00000265460.5_Missense_Mutation_p.E584K|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCGCGCCAAGGAACACGTGCA	0.706000													9	24					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143921831	143921831	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:143921831G>A	ENST00000220940.1	+	2	68		c.e2-1			NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like						apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCCCTTCAGGTCCAGGCTC	0.592000													33	53					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22585663	22585663	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22585663G>A	ENST00000357774.5	-	3	302	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ZNF98_ENST00000601553.1_Silent_p.L61L	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGGTGATCAGGTCTGGCTTA	0.398000													4	167					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66747243	66747243	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:66747243C>T	ENST00000359742.4	-	24	3353	c.3113G>A	c.(3112-3114)gGg>gAg	p.G1038E	GRIP1_ENST00000398016.3_Missense_Mutation_p.G986E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G1023E			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1038	PDZ 7.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATCTCCTGGCCCAGCTGGGCG	0.468000													73	156					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167089911	167089911	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:167089911G>A	ENST00000303354.6	-	21	4206	c.3866C>T	c.(3865-3867)tCc>tTc	p.S1289F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1288F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1289F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1288						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTCCGAAGGGATTTAATGGG	0.323000													17	25					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152522141	152522141	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:152522141C>T	ENST00000256001.8	+	9	1019	c.885C>T	c.(883-885)tcC>tcT	p.S295S	ACTR3B_ENST00000537264.1_Silent_p.S207S|ACTR3B_ENST00000377776.3_Silent_p.S295S|ACTR3B_ENST00000397282.2_Silent_p.S207S	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	295					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TTATGGAGTCCATCTCAGATG	0.403000													9	95					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13185077	13185077	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:13185077C>T	ENST00000379345.2	+	5	517	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	232						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTCCTGTCCCAAGATCCTT	0.552000													58	164					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19556837	19556837	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:19556837G>A	ENST00000328405.2	+	14	2725	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	820						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATTGAAGATGGAAACAGCAGT	0.358000													15	39					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919890	52919890	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:52919890C>T	ENST00000360465.3	+	7	2211	c.1785C>T	c.(1783-1785)caC>caT	p.H595H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCACCAATCACCATAGAATTC	0.428000													20	61					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733577	56733577	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56733577C>T	ENST00000587340.1	-	7	1553	c.858G>A	c.(856-858)ggG>ggA	p.G286G	ZSCAN5A_ENST00000592355.1_Silent_p.G285G|ZSCAN5A_ENST00000254165.3_Silent_p.G169G|ZSCAN5A_ENST00000587492.1_Silent_p.G140G|ZSCAN5A_ENST00000391713.1_Silent_p.G286G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	286					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCCTCTGTTCCCGCTGTGAG	0.537000													58	158					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131924302	131924302	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:131924302A>C	ENST00000403834.3	-	16	1990	c.1817T>G	c.(1816-1818)aTc>aGc	p.I606S	MED23_ENST00000540546.1_Missense_Mutation_p.I606S|MED23_ENST00000368060.3_Missense_Mutation_p.I600S|MED23_ENST00000368053.4_Missense_Mutation_p.I606S|MED23_ENST00000354577.4_Missense_Mutation_p.I606S|MED23_ENST00000545957.1_Missense_Mutation_p.I241S|MED23_ENST00000539158.1_Missense_Mutation_p.D470E|MED23_ENST00000368068.3_Missense_Mutation_p.I600S|MED23_ENST00000368058.1_Missense_Mutation_p.I606S			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	600					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGTGTGTAAGATCCCCCATGC	0.403000													43	66					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21304080	21304080	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:21304080C>T	ENST00000354336.3	+	3	1368	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	287	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			AGGGCTTTTCCCCTTTACGCA	0.478000													143	270					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322346	103322346	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:103322346T>C	ENST00000233969.2	+	11	2161	c.2019T>C	c.(2017-2019)aaT>aaC	p.N673N		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	673						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						TACCTAAAAATACGAAGCTTC	0.303000													5	63					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934068	10934068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:10934068C>T	ENST00000298232.7	-	15	1222	c.855G>A	c.(853-855)atG>atA	p.M285I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.M265I|TPTE_ENST00000361285.4_Missense_Mutation_p.M303I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	303	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATCATCAATCATGATTCTAA	0.313000													51	253					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440209	40440209	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:40440209C>T	ENST00000319592.4	-	4	1411	c.702G>A	c.(700-702)gaG>gaA	p.E234E	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.E234E|RBM47_ENST00000514014.1_Silent_p.E196E|RBM47_ENST00000295971.7_Silent_p.E234E|RBM47_ENST00000381793.2_Silent_p.E234E			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	234						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGTCGATCTCAGGTTCGG	0.637000													60	102					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670060	44670060	+	Missense_Mutation	SNP	G	G	A	rs144471748	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44670060G>A	ENST00000454036.1	+	8	1092	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.R316Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	339					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGACCACACGGCTATGGGGC	0.562000													40	81					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703797	113703797	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113703797G>A	ENST00000374431.3	-	4	1080	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	LPAR1_ENST00000358883.4_Missense_Mutation_p.R233C|LPAR1_ENST00000374430.2_Missense_Mutation_p.R233C|LPAR1_ENST00000538760.1_Missense_Mutation_p.R234C|LPAR1_ENST00000541779.1_Missense_Mutation_p.R234C	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	233					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTCCTCTGGCGAACATAGCCA	0.478000													35	83					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120906	64120906	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:64120906G>A	ENST00000356786.5	+	22	3815	c.3771G>A	c.(3769-3771)agG>agA	p.R1257R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.R409R|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1257					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGAACAGGGAGCTCCTGG	0.672000													25	33					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91176983	91176983	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:91176983G>A	ENST00000371795.4	+	2	240	c.27G>A	c.(25-27)ttG>ttA	p.L9L	IFIT5_ENST00000416601.1_Silent_p.L9L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	9							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGGACACCTTGAAGGCCATTC	0.308000													34	77					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686896	100686896	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100686896C>T	ENST00000306151.4	+	3	12263	c.12199C>T	c.(12199-12201)Cct>Tct	p.P4067S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4067						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)					ACCTACATTTCCTCCTGCTCA	0.547000													62	198					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189208	124189208	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:124189208C>T	ENST00000357438.2	-	1	976	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTTTTCACATCCTTGTTCCTC	0.413000													42	61					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656170	167656170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:167656170C>T	ENST00000357154.3	-	12	1350	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	SPOCK3_ENST00000535728.1_Missense_Mutation_p.E273K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E307K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E402K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E402K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E362K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E307K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E309K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E402K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E354K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E285K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	405	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.E402*(1)		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)		atatcgtcttcatcatcctca	0.353000													14	41					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25477346	25477346	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:25477346C>T	ENST00000278886.6	-	10	1336	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	NINL_ENST00000422516.1_Missense_Mutation_p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	421					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCAGTCGTCCATCTCTTTCA	0.602000													8	111					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14029358	14029358	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:14029358C>T	ENST00000318003.7	+	8	1156	c.915C>T	c.(913-915)ccC>ccT	p.P305P	CC2D1A_ENST00000589606.1_Silent_p.P305P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	305	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGGGTGAGCCCGTGGACCTCT	0.597000													28	45					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7697628	7697628	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:7697628C>T	ENST00000572933.1	+	49	9086	c.7626C>T	c.(7624-7626)tcC>tcT	p.S2542S	DNAH2_ENST00000389173.2_Silent_p.S2542S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2542	AAA 3 (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)				CTGTCATCTCCCCAAGGCTAC	0.602000													31	73					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846406	43846406	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:43846406C>T	ENST00000389420.3	-	13	1852	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	618	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTCTCTCGAAAGTCTTG	0.423000													15	28					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678746	3678746	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3678746C>T	ENST00000344754.4	-	8	1820	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	SIGLEC1_ENST00000202578.4_Silent_p.L607L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	607	Ig-like C2-type 6.				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						CATCAAGGTCCAGCCTGGTGG	0.667000													10	24					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125283905	125283905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:125283905G>A	ENST00000521654.2	+	1	215	c.215G>A	c.(214-216)aGc>aAc	p.S72N	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCCGCGAGGAGCCTGGGGCCC	0.761000													9	16					0	0	1	0	0
ARPP19	10776	broad.mit.edu	37	15	52844159	52844159	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:52844159G>A	ENST00000566423.1	-	4	444	c.311C>T	c.(310-312)tCc>tTc	p.S104F	ARPP19_ENST00000569723.1_Missense_Mutation_p.S63F|ARPP19_ENST00000249822.4_Missense_Mutation_p.S104F|ARPP19_ENST00000567669.1_Missense_Mutation_p.S104F|ARPP19_ENST00000564163.1_Missense_Mutation_p.S123F|ARPP19_ENST00000568196.1_Missense_Mutation_p.S88F|ARPP19_ENST00000563566.1_Missense_Mutation_p.S88F|ARPP19_ENST00000563277.1_Missense_Mutation_p.S88F|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000561971.1_Missense_Mutation_p.S123F|ARPP19_ENST00000561650.1_Missense_Mutation_p.S88F|ARPP19_ENST00000569281.2_Missense_Mutation_p.S104F			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	104					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGCAACAAGGGACGGCTTCCG	0.448000													59	105					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70865385	70865385	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:70865385G>A	ENST00000246895.4	+	3	164	c.51_splice	c.e3-1	p.G18_splice	STATH_ENST00000381060.2_Splice_Site_p.G18_splice	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	18					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						TTTTCTAAGGGAGCTGATTCA	0.323000													13	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067097	9067097	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9067097C>T	ENST00000397910.4	-	3	20552	c.20349G>A	c.(20347-20349)aaG>aaA	p.K6783K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6785	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						TCTCAGGGTCCTTGTTCATGA	0.483000													62	172					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:131872333C>T	ENST00000359827.3	-	15	3852	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G964R			Q9HCM2	PLXA4_HUMAN	plexin A4	964	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587000													12	542					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389895	52389895	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52389895C>T	ENST00000443374.1	+	0	588																											TATGCTGGGTCGTTTTCCTGA	0.403000													18	29					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101324403	101324403	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:101324403C>T	ENST00000344327.3	-	12	3046	c.2622G>A	c.(2620-2622)aaG>aaA	p.K874K	TRPC6_ENST00000532133.1_Silent_p.K796K|TRPC6_ENST00000348423.4_Silent_p.K758K|TRPC6_ENST00000360497.4_Silent_p.K819K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	874					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CATCACTCTCCTTATCTATCT	0.453000													5	90					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164001	12164001	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:12164001C>T	ENST00000379388.2	+	9	7796	c.7464C>T	c.(7462-7464)ctC>ctT	p.L2488L	HIVEP1_ENST00000541134.1_Silent_p.L353L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2488					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGCAGTCACTCCCCTCGTTAA	0.522000													6	182					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52345562	52345562	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:52345562C>T	ENST00000257963.4	+	1	112	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ACVR1B_ENST00000426655.2_Missense_Mutation_p.P12L|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P12L|ACVR1B_ENST00000541224.1_Missense_Mutation_p.P12L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	12					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCCTTCTTCCCCCTTGTTGTC	0.796000													4	17					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22064883	22064883	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:22064883G>A	ENST00000306385.5	+	18	3099	c.2429G>A	c.(2428-2430)gGg>gAg	p.G810E	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	810	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTGTTCGACGGGCGAGACGCC	0.607000													11	163					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124034949	124034949	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:124034949G>A	ENST00000259512.4	-	5	728	c.428C>T	c.(427-429)tCa>tTa	p.S143L	DERL1_ENST00000523036.1_Missense_Mutation_p.S43L|DERL1_ENST00000519018.1_Missense_Mutation_p.S43L|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.S143L	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	143					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACCAAAATGATACAATCAT	0.408000											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	155					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825290	117825290	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:117825290G>A	ENST00000350763.4	-	13	4350	c.3939C>T	c.(3937-3939)atC>atT	p.I1313I	TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.I1313I|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1313	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGAGGCCTGGGATTTCCATGG	0.572000													19	30					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79603321	79603321	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:79603321G>A	ENST00000372391.2	-	6	1013	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	DLG5_ENST00000372388.2_Silent_p.S336S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	336					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCAGGCGGCTCAGGTCTG	0.592000													10	244					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148524329	148524329	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:148524329G>A	ENST00000320356.2	-	7	776	c.655C>T	c.(655-657)Cct>Tct	p.P219S	EZH2_ENST00000536783.1_Missense_Mutation_p.P110S|EZH2_ENST00000541220.1_Missense_Mutation_p.P210S|EZH2_ENST00000478654.1_Missense_Mutation_p.P210S|EZH2_ENST00000483967.1_Missense_Mutation_p.P210S|EZH2_ENST00000476773.1_Missense_Mutation_p.P210S|EZH2_ENST00000460911.1_Missense_Mutation_p.P219S|EZH2_ENST00000350995.2_Missense_Mutation_p.P180S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	219	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTATCAGAAGGAAATTTCCGA	0.353000			Mis		DLBCL								6	360					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269871	28269871	+	Missense_Mutation	SNP	C	C	T	rs147237521	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28269871C>T	ENST00000405948.2	+	7	2660	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	PGBD1_ENST00000259883.3_Missense_Mutation_p.S747L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAAATTATTTCGAAATACAGG	0.388000													25	63					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146556	55146556	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55146556C>T	ENST00000396331.1	+	12	1842	c.1483_splice	c.e12-1	p.T495_splice	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Splice_Site_p.T495_splice|LILRB1_ENST00000324602.7_Splice_Site_p.T496_splice|LILRB1_ENST00000396315.1_Splice_Site_p.T496_splice|LILRB1_ENST00000396317.1_Splice_Site_p.T479_splice|LILRB1_ENST00000418536.2_Splice_Site_p.T479_splice|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Splice_Site_p.T495_splice|LILRB1_ENST00000396327.3_Splice_Site_p.T496_splice|LILRB1_ENST00000427581.2_Splice_Site_p.T545_splice|LILRB1_ENST00000434867.2_Splice_Site_p.T495_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	495					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TTCCCCCAGCCCAGAGAAAGG	0.582000										HNSCC(37;0.09)			21	27					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37841722	37841722	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:37841722C>T	ENST00000381967.4	+	6	660	c.560C>T	c.(559-561)cCt>cTt	p.P187L	PGM2_ENST00000544359.1_Missense_Mutation_p.P48L|PGM2_ENST00000537241.1_Missense_Mutation_p.P27L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	187					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATCATTTCTCCTCACGATAAA	0.413000													42	100					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298801	107298801	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:107298801G>A	ENST00000374781.2	-	1	336	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGATATCCAGGAAAGAGAGGT	0.413000													53	107					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70825531	70825531	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:70825531C>T	ENST00000373695.1	+	8	1955	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	ACRC_ENST00000373696.3_Missense_Mutation_p.P473L			Q96QF7	ACRC_HUMAN	acidic repeat containing	473	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAGCGTGGGCCTTCAAAGAAG	0.423000													12	13					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083676	107083676	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:107083676G>A	ENST00000455737.1	-	0	49																											AAGAACCACAGATGTTTCATG	0.507000													18	99					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427202	38427202	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38427202C>T	ENST00000322350.5	+	14	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	634	Laminin G-like 2.					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)					ACCTTTCCTTCATGGAATTTG	0.493000													64	254					0	0	1	0	0
YPEL2	388403	broad.mit.edu	37	17	57430818	57430818	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:57430818C>T	ENST00000312655.4	+	2	366	c.48C>T	c.(46-48)tcC>tcT	p.S16S	YPEL2_ENST00000581865.1_Intron|YPEL2_ENST00000585166.1_Silent_p.S16S	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	16						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATCTGCCCTCCTGCCACCGGA	0.537000													32	180					0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19735203	19735203	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:19735203G>A	ENST00000542587.1	-	6	1820	c.918C>T	c.(916-918)ttC>ttT	p.F306F	LPAR2_ENST00000586703.1_Silent_p.F306F|LPAR2_ENST00000407877.3_Silent_p.F306F			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	306					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAAGGCGGCGGAAGGTGCGGC	0.602000													45	78					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169325171	169325171	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:169325171C>T	ENST00000511577.1	-	25	3547	c.3300G>A	c.(3298-3300)aaG>aaA	p.K1100K	DDX60L_ENST00000505890.1_Silent_p.K1100K|DDX60L_ENST00000260184.7_Silent_p.K1100K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1100							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTGTCTTAACTTTTCAACAA	0.299000													3	10					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227081821	227081821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:227081821C>T	ENST00000366782.1	+	12	1785	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	PSEN2_ENST00000366783.3_Missense_Mutation_p.L396F|PSEN2_ENST00000340188.4_Missense_Mutation_p.L363F|PSEN2_ENST00000472139.2_Missense_Mutation_p.L252F|PSEN2_ENST00000391872.2_Missense_Mutation_p.L429F|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000422240.2_Missense_Mutation_p.L395F			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	396					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGTGGCCATCCTCATTGTGAG	0.637000													30	59					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379256	57379256	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:57379256C>T	ENST00000403558.1	+	6	1591	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C|SERPING1_ENST00000340687.6_Intron	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTGAAACATCGTCTTGAAGA	0.493000													83	172					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250641	18250641	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:18250641A>G	ENST00000377369.2	+	3	666	c.393A>G	c.(391-393)tcA>tcG	p.S131S	SLC39A12_ENST00000377371.3_Silent_p.S131S|SLC39A12_ENST00000377374.4_Silent_p.S131S|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	131					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGTTCTTCAAAGCTCAACA	0.393000													48	84					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644315	64644315	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:64644315C>T	ENST00000498707.1	-	4	1174	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.E278K|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E278K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	278					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTCCTCTTTTCTCTTGTGTTG	0.448000													116	188					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995438	38995438	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:38995438G>A	ENST00000381938.3	-	3	646	c.539C>T	c.(538-540)tCg>tTg	p.S180L		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	180						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTAGTTTATCGATTTCTCCTT	0.373000													49	111					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626733	1626733	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:1626733G>A	ENST00000421627.2	+	9	2536	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	880					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGACAAAGAGGATGGAAGGC	0.567000													3	18					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390027	158390027	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:158390027G>A	ENST00000314902.2	-	1	629	c.630C>T	c.(628-630)ccC>ccT	p.P210P		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCAACAATAAGGGGATAGCCA	0.453000													34	121					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	465059	465059	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:465059C>T	ENST00000280886.6	-	6	772	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	DIP2C_ENST00000381496.3_Missense_Mutation_p.G122R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	229						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCGGGACCCCGTGGAACCC	0.537000													11	112					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535452	90535452	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:90535452C>T	ENST00000602681.1	+	0	1356																											GCCCCTCACCCGAGCCACCTG	0.632000													29	381					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828076	94828076	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:94828076G>A	ENST00000285949.5	+	6	1191		c.e6-1			NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1						anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCTCTCTGCAGGGCTACCAGA	0.632000													6	134					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39784188	39784188	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:39784188C>T	ENST00000564288.1	+	30	4623	c.3846C>T	c.(3844-3846)ctC>ctT	p.L1282L	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.L1287L|MACF1_ENST00000567887.1_Silent_p.L1319L|MACF1_ENST00000545844.1_Silent_p.L1287L|MACF1_ENST00000361689.2_Silent_p.L1287L|MACF1_ENST00000372915.3_Silent_p.L1287L|MACF1_ENST00000317713.7_Silent_p.L1287L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1287					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAACTCTCATCAAGTGGA	0.512000													25	46					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432198	10432198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10432198C>T	ENST00000245503.5	-	27	3937	c.3553G>A	c.(3553-3555)Gag>Aag	p.E1185K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1185K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1185					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTGGCCTCCTCCAGGTCCCTG	0.592000													106	164					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402599	20402599	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:20402599G>A	ENST00000381150.1	-	6	1251	c.861C>T	c.(859-861)tcC>tcT	p.S287S	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Silent_p.S287S|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	287					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.S287>?(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTCCTCCAAGGAGTAGCTGC	0.607000													118	233					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45396871	45396871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:45396871G>A	ENST00000402690.2	-	3	695	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000591214.1_Intron|SMAD2_ENST00000262160.6_Missense_Mutation_p.L101F	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	101	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AAGCTGTAAAGGCCTGTTGTA	0.408000													11	148					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249852	50249852	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:50249852G>A	ENST00000246801.3	-	6	949	c.867C>T	c.(865-867)ccC>ccT	p.P289P	TSKS_ENST00000358830.3_Silent_p.P89P	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	289							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGGTTTGTCGGGACTCCCTG	0.726000													24	51					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733256	56733256	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:56733256G>A	ENST00000587340.1	-	7	1874	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ZSCAN5A_ENST00000592355.1_Silent_p.F392F|ZSCAN5A_ENST00000254165.3_Silent_p.F276F|ZSCAN5A_ENST00000587492.1_Silent_p.F247F|ZSCAN5A_ENST00000391713.1_Silent_p.F393F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	393					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F393L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAAGCTGCATGAAGCGCTTCC	0.502000													17	42					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67212020	67212020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:67212020G>A	ENST00000269081.4	-	9	1703	c.794C>T	c.(793-795)cCt>cTt	p.P265L	ABCA10_ENST00000416101.2_Missense_Mutation_p.P265L|ABCA10_ENST00000432313.2_Missense_Mutation_p.P265L	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	265					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAAAGATAAAGGAAGTTGTCT	0.378000													10	164					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198189	101198189	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:101198189G>A	ENST00000294728.2	+	7	1842	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	VCAM1_ENST00000370119.4_Missense_Mutation_p.G519R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G382R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G489R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTATGTGAAGGAATTAACCA	0.413000													34	120					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152370903	152370903	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:152370903T>A	ENST00000397345.3	-	159	23258	c.23056A>T	c.(23056-23058)Aag>Tag	p.K7686*	NEB_ENST00000604864.1_Nonsense_Mutation_p.K7686*|NEB_ENST00000603639.1_Nonsense_Mutation_p.K7686*|NEB_ENST00000172853.10_Nonsense_Mutation_p.K5985*|NEB_ENST00000427231.2_Nonsense_Mutation_p.K7686*|NEB_ENST00000409198.1_Nonsense_Mutation_p.K5985*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5985					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGAGGCCCTTCCCACGGATG	0.453000													103	199					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656748	46656748	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:46656748G>A	ENST00000544460.1	+	1	1137	c.883G>A	c.(883-885)Gat>Aat	p.D295N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D295N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	295					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)			GGGGACAGGGGATGAGAACTC	0.632000													5	81					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008568	124008568	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124008568G>A	ENST00000369005.1	+	21	8897	c.8557G>A	c.(8557-8559)Gaa>Aaa	p.E2853K	TACC2_ENST00000369004.3_Missense_Mutation_p.E913K|TACC2_ENST00000368999.1_Missense_Mutation_p.E943K|TACC2_ENST00000358010.1_Missense_Mutation_p.E999K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2731K|TACC2_ENST00000369001.1_Missense_Mutation_p.E480K|TACC2_ENST00000260733.3_Missense_Mutation_p.E931K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2853K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2780K|TACC2_ENST00000513429.1_Missense_Mutation_p.E999K|TACC2_ENST00000360561.3_Missense_Mutation_p.E901K|TACC2_ENST00000369000.1_Missense_Mutation_p.E476K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2780K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2853						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGTCAGAATGAAGAGGTGTT	0.587000													4	20					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481888	228481888	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:228481888G>A	ENST00000570156.2	+	47	12528	c.12454G>A	c.(12454-12456)Gaa>Aaa	p.E4152K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E3723K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E842K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3723K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E842K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2570K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3194	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAGGAATGAAGAGGCCAC	0.547000													19	255					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102309885	102309885	+	Translation_Start_Site	SNP	T	T	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:102309885T>G	ENST00000379787.4	+	0	1601				PAM_ENST00000348126.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.Y410D|PAM_ENST00000304400.7_Missense_Mutation_p.Y410D|PAM_ENST00000346918.2_Missense_Mutation_p.Y410D|PAM_ENST00000438793.3_Missense_Mutation_p.Y410D|PAM_ENST00000274392.9_Missense_Mutation_p.Y313D			P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase						peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTGCACAAATATAATCCTAC	0.433000													32	55					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35293175	35293175	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:35293175G>A	ENST00000408931.3	-	1	583	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	19						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCGCGGCAATGGAGAAGGCGT	0.657000													39	53					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769588	111769588	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:111769588G>A	ENST00000452346.2	+	9	1164	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	TMPRSS7_ENST00000419127.1_Silent_p.P261P			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	387	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CATATTACCCGAGCTACTATC	0.393000													94	183					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67579062	67579062	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:67579062G>A	ENST00000310421.4	-	1	390	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	44					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCCGGAAAGGATTCTCCGGT	0.662000													24	38					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55718268	55718268	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:55718268G>A	ENST00000376350.3	-	3	163	c.141C>T	c.(139-141)tcC>tcT	p.S47S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S47S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	47	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCAGCTCAGGGAGATGGAGC	0.562000													41	72					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967213	93967213	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:93967213G>A	ENST00000369303.4	-	12	2323	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	713	Protein kinase.					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)		CATTTTCCATGAACTCTATTA	0.363000													15	45					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655980	40655980	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:40655980C>T	ENST00000406785.1	-	2	1630	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	481	Calx-beta 1.				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)	ATATCATCATCTATGATACCC	0.418000													31	77					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182001	109182001	+	Silent	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:109182001G>C	ENST00000326495.5	-	15	3006	c.2913C>G	c.(2911-2913)tcC>tcG	p.S971S	SSH1_ENST00000360239.3_Silent_p.S659S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	971	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTCAGTGGGGAAGAGACGG	0.637000													18	388					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773539	107773539	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:107773539T>C	ENST00000311955.3	-	2	926	c.872A>G	c.(871-873)gAa>gGa	p.E291G		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	291					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTGGTTCCTTCTTTGGGGCG	0.512000													44	57					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129635934	129635934	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:129635934C>T	ENST00000421865.2	+	24	3595	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1182	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGGACTGATCCGGACGTGGG	0.512000													8	117					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29391656	29391656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:29391656C>T	ENST00000343067.4	+	16	2297	c.2170C>T	c.(2170-2172)Ccc>Tcc	p.P724S	EPB41_ENST00000349460.4_Missense_Mutation_p.P501S|EPB41_ENST00000373797.1_Missense_Mutation_p.P710S|EPB41_ENST00000347529.3_Missense_Mutation_p.P635S|EPB41_ENST00000373798.1_Missense_Mutation_p.P724S|EPB41_ENST00000356093.2_Missense_Mutation_p.P691S|EPB41_ENST00000398863.2_Missense_Mutation_p.P670S|EPB41_ENST00000373800.3_Missense_Mutation_p.P482S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	724	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGGGCAAATCCCCACAGGAGA	0.418000													20	57					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725302	140725302	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140725302C>T	ENST00000253812.6	+	1	1702	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACAGACGG	0.662000													101	216					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711940	40711940	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40711940G>A	ENST00000253055.3	+	5	1599	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	437	Leucine-zipper 2.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGGAACGGGAGCTGCACCTGC	0.677000													16	21					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058516	95058516	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:95058516C>T	ENST00000329597.7	+	6	1371	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	SERPINA5_ENST00000554866.1_Silent_p.P387P|SERPINA5_ENST00000553780.1_Silent_p.P387P|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.P387P	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	387					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.P387P(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCAACAGGCCCTTTCTGATGT	0.557000													21	597					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159336	154159336	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:154159336G>A	ENST00000360256.4	-	14	2929	c.2729C>T	c.(2728-2730)tCa>tTa	p.S910L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	910	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAAATTGTCTGATGGAATTGT	0.363000													47	16					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22163864	22163864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:22163864C>T	ENST00000389397.4	+	32	3482	c.620C>T	c.(619-621)tCc>tTc	p.S207F	VWA3A_ENST00000563755.1_Missense_Mutation_p.S207F|VWA3A_ENST00000389398.5_Missense_Mutation_p.S1105F			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1105						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCTGGCTTCCTTCACCGGC	0.567000													12	28					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187615	37187615	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37187615G>A	ENST00000425901.2	+	0	1457					NR_033753.2																						GCCTCCTAAGGAAGTTGTACC	0.512000													45	91					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50912472	50912472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:50912472C>T	ENST00000442544.2	+	16	3035	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	DCC_ENST00000581580.1_Missense_Mutation_p.P462S|DCC_ENST00000412726.1_Missense_Mutation_p.P655S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	807	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAAGGAGTTCCTCTTTATGA	0.348000													28	73					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884176	205884176	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:205884176G>A	ENST00000367134.2	-	22	2621	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	SLC26A9_ENST00000340781.4_Silent_p.S836S|SLC26A9_ENST00000367135.3_3'UTR	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGCTGCCAAGGACAGGGCAG	0.557000													80	95					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633243	143633243	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:143633243G>A	ENST00000408955.2	+	1	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AACTATTAGAGAAATTCTCTG	0.418000													31	73					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228576	3228576	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:3228576C>T	ENST00000217939.6	-	7	7822	c.7668G>A	c.(7666-7668)gcG>gcA	p.A2556A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2556	Ig-like C2-type 10.					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)				TGGTGTGGCCCGCCATGGCCG	0.637000													28	5					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87183232	87183232	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:87183232C>T	ENST00000265724.3	-	10	1261	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E218K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	282	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTAGCTTCTTCTAAATTTTTG	0.348000													50	140					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591789	591789	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:591789G>A	ENST00000381578.1	+	2	848	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SHOX_ENST00000334060.3_Missense_Mutation_p.D53N|SHOX_ENST00000554971.1_Missense_Mutation_p.D53N|SHOX_ENST00000381575.1_Missense_Mutation_p.D53N	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	53					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGACGTCGGATTCCAGCCT	0.602000													148	66					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623737	2623737	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2623737G>A	ENST00000296847.3	-	3	843	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	107										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CAGATGGCAGGGAGTGGCCTG	0.537000													18	61					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167755069	167755069	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:167755069C>T	ENST00000239587.5	+	3	1769	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	561					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTTGTTTTTCCTTTCAATGA	0.458000													20	61					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37947194	37947194	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:37947194G>A	ENST00000436072.2	-	6	1305	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	310					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGATTACTACGACTGGTGCGC	0.502000													7	150					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216835	50216835	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50216835G>A	ENST00000216267.8	-	1	1617	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.F377F|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Silent_p.F377F|BRD1_ENST00000542442.1_Silent_p.F16F|BRD1_ENST00000457780.2_Silent_p.F377F	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	377					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCTGACGGAGAAGGTGGTGC	0.542000													94	217					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55081145	55081145	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:55081145G>A	ENST00000505374.1	+	11	738	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	DDX4_ENST00000353507.5_Missense_Mutation_p.E182K|DDX4_ENST00000514278.2_Missense_Mutation_p.E196K|DDX4_ENST00000354991.5_Missense_Mutation_p.E182K|DDX4_ENST00000511853.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	216	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGTTTAAATGAAGAAGTAAT	0.318000													47	105					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56233413	56233413	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56233413G>A	ENST00000322569.4	-	5	724	c.633C>T	c.(631-633)gcC>gcT	p.A211A	MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Silent_p.A188A	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	211					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CCACTTCATGGGCTGCAATGA	0.622000													24	58					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606432	7606432	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:7606432C>T	ENST00000221249.6	+	12	1344	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	PNPLA6_ENST00000545201.2_Missense_Mutation_p.P305S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P305S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P353S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P344S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	344					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGTCTGTTCCCCAGCCCCGG	0.697000													9	16					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621747	7621747	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:7621747C>T	ENST00000256861.6	-	9	1467	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	ITIH5_ENST00000397146.2_Silent_p.E463E|ITIH5_ENST00000298441.6_Silent_p.E249E|ITIH5_ENST00000397145.2_Silent_p.E463E|ITIH5_ENST00000446830.2_Silent_p.E245E|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	463	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGTCCTCCTCCTCGTGCACGC	0.602000													48	79					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272866	48272866	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:48272866G>A	ENST00000229022.3	-	4	312	c.31C>T	c.(31-33)Cct>Tct	p.P11S	VDR_ENST00000550325.1_Missense_Mutation_p.P61S|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000395324.2_Missense_Mutation_p.P11S|VDR_ENST00000549336.1_Missense_Mutation_p.P11S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	11					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGGGTCAGGCAGGGAAGTG	0.602000													22	78					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46773084	46773084	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46773084G>A	ENST00000262738.3	-	24	7457	c.7458C>T	c.(7456-7458)gcC>gcT	p.A2486A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2486					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGAGGACGAAGGCCACCAGCA	0.607000													8	71					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623859	21623859	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:21623859G>A	ENST00000304418.3	-	1	363	c.326C>T	c.(325-327)cCc>cTc	p.P109L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GGAGTACATGGGTGTGTGCAG	0.562000													25	53					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37267488	37267488	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:37267488C>T	ENST00000373091.3	-	16	2740	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	908					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGCTGCAGGCCATGCTGTCCT	0.597000													19	66					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124338233	124338233	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124338233G>A	ENST00000338354.3	+	9	743		c.e9-1		DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGTTTACAGAAAGTTGGCC	0.448000													10	15					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72295940	72295940	+	Silent	SNP	G	G	A	rs145415914		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:72295940G>A	ENST00000334456.5	-	17	1580	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	PDE2A_ENST00000444035.2_Silent_p.F436F|PDE2A_ENST00000376450.3_Silent_p.F189F|PDE2A_ENST00000418754.2_Silent_p.F330F|PDE2A_ENST00000544570.1_Silent_p.F438F|PDE2A_ENST00000540345.1_Silent_p.F436F|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	445	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGCCCCCGTCGAACACCTTGG	0.662000													54	103					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462258	37462258	+	Silent	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37462258C>A	ENST00000381792.2	-	19	2477	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L	TMPRSS6_ENST00000406725.1_Silent_p.L757L|TMPRSS6_ENST00000406856.1_Silent_p.L779L|TMPRSS6_ENST00000346753.3_Silent_p.L766L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	766	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCTTGCACACCAGCGGACCAC	0.612000													13	33					9.31168e-06	9.34421e-06	1	1	0
LEPR	3953	broad.mit.edu	37	1	66102324	66102324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:66102324C>T	ENST00000349533.6	+	20	3309	c.3124C>T	c.(3124-3126)Cag>Tag	p.Q1042*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q109*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1042					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTATCAGATCAGCATCCCAA	0.373000													9	237					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76395517	76395517	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76395517C>T	ENST00000262764.6	+	5	626	c.600C>T	c.(598-600)ctC>ctT	p.L200L	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.L65L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	200					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CGCCGCACCTCCGTGGGCTGC	0.607000													8	193					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300910	71300910	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:71300910C>T	ENST00000260382.5	+	12	1622	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	LRRC49_ENST00000544974.2_Silent_p.I444I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Silent_p.I142I|LRRC49_ENST00000560691.1_Silent_p.I160I|LRRC49_ENST00000443425.2_Silent_p.I410I|LRRC49_ENST00000560369.1_Silent_p.I459I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	454						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTGATGAAATCGTCCAAGTGC	0.363000													15	56					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52902770	52902770	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52902770G>A	ENST00000356971.3	-	4	612	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ICK_ENST00000350082.5_Silent_p.S41S	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	41	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATTCCTCCCAGGAATAAAATT	0.303000													19	42					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392687	79392687	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:79392687C>T	ENST00000370742.3	-	8	1030	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	323					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TCAGAATTATCATAATTTTGA	0.323000													25	61					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089020	4089020	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:4089020G>A	ENST00000404826.2	+	18	2782	c.2643G>A	c.(2641-2643)gtG>gtA	p.V881V	SDK1_ENST00000389531.3_Silent_p.V881V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	881	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGAAGCCGTGAACTCCACCA	0.592000													26	51					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909426	24909426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:24909426C>T	ENST00000449109.2	+	9	888	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	SLC5A11_ENST00000545376.1_Silent_p.F264F|SLC5A11_ENST00000565769.1_Silent_p.F270F|SLC5A11_ENST00000347898.3_Silent_p.F334F|SLC5A11_ENST00000424767.2_Silent_p.F299F|SLC5A11_ENST00000568579.1_Silent_p.F264F|SLC5A11_ENST00000539472.1_Silent_p.F270F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P202S|SLC5A11_ENST00000567758.1_Silent_p.F299F	NM_001258414.1	NP_001245343.1	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	366					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCATCCTCTTCCCAGGTGAGA	0.493000													6	146					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832731	130832731	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:130832731C>T	ENST00000357462.5	-	15	2407	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	POTEF_ENST00000409914.2_Missense_Mutation_p.E772K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	772	Actin-like.					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						ATGCCGTGTTCCATGGGGTAC	0.582000													6	224					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72667780	72667780	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:72667780G>A	ENST00000340415.3	+	1	1064	c.55G>A	c.(55-57)Gac>Aac	p.D19N	RAB37_ENST00000402449.4_Missense_Mutation_p.D19N	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGACTTCAACGACCACGTCCT	0.582000													34	87					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147481373	147481373	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:147481373G>A	ENST00000359874.3	+	15	1405	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	SPINK5_ENST00000398454.1_Silent_p.R444R|SPINK5_ENST00000256084.7_Silent_p.R444R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	444	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAATCCAGGAAAAACGGAC	0.458000													41	68					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73560419	73560419	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:73560419G>A	ENST00000224721.6	+	52	7409	c.7404G>A	c.(7402-7404)ctG>ctA	p.L2468L	CDH23_ENST00000398788.3_Silent_p.L223L|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2463	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTCTTCTCTGGACCGGGAGA	0.502000													22	23					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461817	11461817	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:11461817C>T	ENST00000279575.1	-	3	134		c.e3-1		PRB4_ENST00000535904.1_Splice_Site|PRB4_ENST00000445719.2_Splice_Site	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4							extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCTGGCTTTCCTGGAGGAGGT	0.522000										HNSCC(22;0.051)			23	387					0	0	1	0	0
SLC35E2	9906	broad.mit.edu	37	1	1670393	1670393	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1670393G>A	ENST00000355439.2	-	4	1186	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SLC35E2_ENST00000400924.1_Silent_p.F142F|SLC35E2_ENST00000246421.4_Silent_p.F142F	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	142						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCGTCATAAGGAAGTTGGGTG	0.473000													10	37					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297562	77297562	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:77297562C>T	ENST00000393774.3	+	3	358	c.234C>T	c.(232-234)ttC>ttT	p.F78F	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.F61F	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	78										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGAAATTTTTCACCACTGGAC	0.498000													6	64					0	0	1	0	0
ALKBH6	84964	broad.mit.edu	37	19	36503943	36503943	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36503943C>T	ENST00000378875.3	-	3	192	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ALKBH6_ENST00000252984.7_Missense_Mutation_p.E35K|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000486389.1_Intron|ALKBH6_ENST00000485128.1_Missense_Mutation_p.E35K	NM_032878.3|NM_198867.1	NP_116267.3|NP_942567.1	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	35						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAATACTCCTCCTCTTCTTTG	0.517000													56	123					0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119054504	119054504	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:119054504G>A	ENST00000371431.3	+	7	802	c.528G>A	c.(526-528)caG>caA	p.Q176Q	AKAP14_ENST00000334356.2_Silent_p.Q116Q|AKAP14_ENST00000371423.2_Silent_p.Q117Q|AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371425.4_Silent_p.Q116Q	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	176						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AAAACTGGCAGAAGAATCTTA	0.328000													4	74					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606513	174606513	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:174606513G>A	ENST00000251507.4	+	14	1885	c.1710_splice	c.e14-1	p.D571_splice		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	571	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TCTTTTTTAGGACTCAGCCCA	0.333000													11	102					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37893197	37893197	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:37893197G>A	ENST00000357972.5	+	2	601	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.E19K|SYTL5_ENST00000456733.2_Missense_Mutation_p.E19K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	19	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCATGAGAAGGAAATGATCCT	0.368000													31	10					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440638	10440638	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10440638G>A	ENST00000245503.5	-	16	2193	c.1809C>T	c.(1807-1809)ccC>ccT	p.P603P	MYH2_ENST00000397183.2_Silent_p.P603P|MYH2_ENST00000532183.1_Silent_p.P603P|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	603	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTCATTCAGGGGGTCCTTGT	0.512000													87	168					0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85850757	85850757	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:85850757C>T	ENST00000450066.2	+	3	334	c.113C>T	c.(112-114)cCc>cTc	p.P38L	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Intron|USP39_ENST00000409766.3_Intron|USP39_ENST00000409025.1_Intron|USP39_ENST00000323701.6_Intron	NM_001256727.1|NM_001256728.1	NP_001243656.1|NP_001243657.1	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	141	Arg-rich.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGCTTTTCACCCTTCCCTACA	0.438000													67	160					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459862	86459862	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:86459862C>T	ENST00000165698.5	-	6	624	c.481G>A	c.(481-483)Gga>Aga	p.G161R	REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.G134R|REEP1_ENST00000540790.1_Missense_Mutation_p.G140R|REEP1_ENST00000541910.1_Silent_p.G82G|REEP1_ENST00000538924.1_Missense_Mutation_p.G168R	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	161					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCGCCGTCTCCCCTGATGGTG	0.657000													4	82					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473679	74473679	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:74473679C>T	ENST00000323940.5	-	17	1886	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	STRA6_ENST00000449139.2_Missense_Mutation_p.M547I|STRA6_ENST00000535552.1_Missense_Mutation_p.M584I|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.M538I|STRA6_ENST00000563965.1_Missense_Mutation_p.M586I|STRA6_ENST00000416286.3_Missense_Mutation_p.M539I|STRA6_ENST00000574278.1_Missense_Mutation_p.M562I|STRA6_ENST00000395105.4_Missense_Mutation_p.M547I	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	547					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCTGAGGTCCATCTGGCCAA	0.632000													16	32					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409784	69409784	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:69409784C>T	ENST00000303714.4	+	16	1667	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	449					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGGTACTCTCCAATCAAGGT	0.423000									Familial Infantile Hemangioma				39	86					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151927069	151927069	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:151927069C>T	ENST00000355193.2	-	18	3133	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	KMT2C_ENST00000262189.6_Missense_Mutation_p.G972E					lysine (K)-specific methyltransferase 2C									p.G972E(4)									AAGTAATCTTCCTTCTGCTCC	0.353000													27	525					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123787487	123787487	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:123787487C>T	ENST00000422452.2	-	7	1378	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	TENM1_ENST00000371130.3_Missense_Mutation_p.D439N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGCAGAGAGTCCTTGGCTAAA	0.393000													81	33					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967178	106967178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:106967178C>T	ENST00000369066.3	+	2	1358	c.871C>T	c.(871-873)Cga>Tga	p.R291*		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	291							sugar binding	p.R291*(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)		CACTGACATTCGAGGCCAAAG	0.433000													6	105					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182553236	182553236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:182553236C>T	ENST00000367559.3	-	3	1799	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	RNASEL_ENST00000444138.1_Missense_Mutation_p.E516K|RNASEL_ENST00000539397.1_Missense_Mutation_p.E516K	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	516	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTCTTGACTTCCTGTGGATCT	0.408000													6	222					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562000													48	133					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216719	134216719	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:134216719G>A	ENST00000359579.4	+	3	614	c.294G>A	c.(292-294)aaG>aaA	p.K98K	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	98					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGACCCTCAAGGACCTGAAGC	0.463000													66	223					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766085	13766085	+	Splice_Site	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13766085C>T	ENST00000265104.4	-	59	10205	c.10101_splice	c.e59+1	p.Q3367_splice	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3367	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTACCAACCTGTAAGTTCT	0.408000									Kartagener syndrome				13	115					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366709	40366709	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:40366709G>A	ENST00000406785.1	-	7	2458	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S	SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P788S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P793S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P757S|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P793S|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P757S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P788S|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P757S|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P785S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P757S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	793					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)	TCAGTAGGGGGGACGAAGGCA	0.507000													35	97					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050213	120050213	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:120050213C>T	ENST00000235547.6	+	2	259	c.120C>T	c.(118-120)gcC>gcT	p.A40A	HSD3B1_ENST00000528909.1_Silent_p.A38A|HSD3B1_ENST00000369413.3_Silent_p.A38A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	38					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGGACAAGGCCTTCGGACCAG	0.512000													5	130					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339393	124339393	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:124339393G>A	ENST00000338354.3	+	10	1085	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	DMBT1_ENST00000368955.3_Missense_Mutation_p.E327K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E327K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E327K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E327K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E327K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	327	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATAGTGAAGACGCTGG	0.532000													10	135					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43440125	43440125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:43440125G>A	ENST00000282041.5	-	40	6987	c.6953C>T	c.(6952-6954)tCc>tTc	p.S2318F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2318					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGGCGGACGGACGCCAGGCT	0.537000													46	86					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109547434	109547434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:109547434G>A	ENST00000409271.1	-	3	480	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	EDAR_ENST00000258443.2_Missense_Mutation_p.L13F|EDAR_ENST00000376651.1_Missense_Mutation_p.L13F			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	13					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGACGGGGAGCCAGGGCGTC	0.597000													37	79					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22783035	22783035	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:22783035G>A	ENST00000600260.1	+	0	542					NR_033899.1																						ACAAGAGGAGGCTGAGCACCT	0.602000													7	14					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22954255	22954255	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:22954255G>A	ENST00000313077.7	+	14	1530	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E469K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	469					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGGCAGGATGGAGAGCGTGTT	0.622000													11	95					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236820	9236820	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9236820C>T	ENST00000305444.2	-	1	806	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGCACCCTTCCTGGAGGAGT	0.478000													32	85					0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516737	93516737	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:93516737G>A	ENST00000222543.5	-	4	779	c.467C>T	c.(466-468)tCa>tTa	p.S156L	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	156					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GTAGCAAAATGATGGAACTTT	0.323000													33	88					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058919	248058919	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248058919C>T	ENST00000537741.1	+	3	288	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	OR2W3_ENST00000360358.3_Missense_Mutation_p.H11Y			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACCCAAACCCATTTCATCCT	0.463000													46	66					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104825664	104825664	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:104825664A>G	ENST00000444739.2	-	2	982	c.72T>C	c.(70-72)ggT>ggC	p.G24G	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	24	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TATCCAAAACACCAGTGAGGA	0.393000													52	61					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736228	113736228	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:113736228C>T	ENST00000259205.4	+	2	82	c.13C>T	c.(13-15)Cca>Tca	p.P5S	IL36G_ENST00000376489.2_Missense_Mutation_p.P5S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	5					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAGAGGCACTCCAGGAGACGC	0.522000													26	52					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126211285	126211285	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126211285C>T	ENST00000290868.2	-	16	1637	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	UROC1_ENST00000383579.3_Silent_p.Q588Q	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	528					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGCGATGGCCTGGTTAATGG	0.622000													20	31					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13636048	13636048	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:13636048G>A	ENST00000361306.1	+	8	1235	c.978G>A	c.(976-978)ggG>ggA	p.G326G	EGFL6_ENST00000380602.3_Silent_p.G326G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	326					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCAGAGGCGGGAACTCTCATG	0.448000													6	138					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46511530	46511530	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:46511530G>A	ENST00000263284.2	+	6	693	c.693G>A	c.(691-693)cgG>cgA	p.R231R	CCDC61_ENST00000594087.1_Silent_p.R174R|CCDC61_ENST00000536603.1_Silent_p.R174R|CCDC61_ENST00000595358.1_Silent_p.R174R					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGGACACCCGGGAGAATGAGA	0.667000													9	11					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303094	6303094	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:6303094C>T	ENST00000226760.1	+	8	1742	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	WFS1_ENST00000503569.1_Silent_p.F524F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	524					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGAGGAATTTCAAGGGCACCT	0.597000													45	109					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962971	117962971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:117962971C>T	ENST00000425217.1	-	14	1872	c.1818G>A	c.(1816-1818)atG>atA	p.M606I	KSR2_ENST00000339824.5_Missense_Mutation_p.M635I|KSR2_ENST00000302438.5_Missense_Mutation_p.M332I|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	635					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)					GGGACAGGTTCATCTCCTCGA	0.587000													6	55					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078818	78078818	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:78078818G>A	ENST00000302262.3	+	2	652	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	GAA_ENST00000390015.3_Missense_Mutation_p.E145K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	145					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GAGCTCCTCTGAAATGGGCTA	0.627000													26	75					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813494	2813494	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:2813494C>T	ENST00000301740.8	+	11	3514	c.2965C>T	c.(2965-2967)Cac>Tac	p.H989Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	989	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGACAAAGTCACTCAGGGTC	0.483000													92	221					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778125	183778125	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:183778125C>T	ENST00000318351.1	+	9	1363	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	443						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)			CTGTCATTGTCCTCTGGAACA	0.552000													7	273					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53905374	53905374	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:53905374C>T	ENST00000396408.3	+	3	189	c.72C>T	c.(70-72)tgC>tgT	p.C24C	ZNF765_ENST00000594030.1_Silent_p.C24C	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGTGGAAATGCCTGGACCCTG	0.488000													20	147					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950708	115950708	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:115950708G>A	ENST00000238256.3	-	13	1354	c.1237C>T	c.(1237-1239)Cat>Tat	p.H413Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	413			H -> Q (in dbSNP:rs10435864).		endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGGGCCGGATGAAGAGAGGGC	0.547000													9	84					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191403	56191403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:56191403C>T	ENST00000340462.4	-	2	436	c.156G>A	c.(154-156)atG>atA	p.M52I	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000371173.3_Missense_Mutation_p.M52I|ZBP1_ENST00000541799.1_Missense_Mutation_p.M52I|ZBP1_ENST00000343535.4_Missense_Mutation_p.M52I|ZBP1_ENST00000395822.3_Intron			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	52						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			ACTCCTTTTTCATTCGGTAGA	0.592000													72	160					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718663	95718663	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:95718663C>T	ENST00000480546.1	-	0	2634					NR_002319.2																						TTGTTGGGATCCACACCTGGG	0.537000													38	66					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579113	82579113	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82579113C>T	ENST00000423517.2	-	6	11128	c.10791G>A	c.(10789-10791)gaG>gaA	p.E3597E	PCLO_ENST00000333891.8_Silent_p.E3597E|PCLO_ENST00000437081.1_Silent_p.E317E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3528					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						AATAACCAATCTCTAAAGGTG	0.478000													27	94					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587795	247587795	+	Silent	SNP	G	G	A	rs143140947		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:247587795G>A	ENST00000366497.2	+	4	1830	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	NLRP3_ENST00000391827.2_Silent_p.T350T|NLRP3_ENST00000366496.2_Silent_p.T350T|NLRP3_ENST00000336119.3_Silent_p.T350T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.T350T|NLRP3_ENST00000391828.3_Silent_p.T350T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	350	NACHT.		T -> M (in MWS and CINCA).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATCACCACGAGACCTGTGG	0.572000													84	89					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32798472	32798472	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:32798472C>T	ENST00000380250.3	+	37	5362	c.4866C>T	c.(4864-4866)ccC>ccT	p.P1622P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGGGCCCCCCTGGTTGACT	0.557000													7	86					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935119	28935119	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:28935119G>A	ENST00000257192.4	+	15	3172	c.2960G>A	c.(2959-2961)gGg>gAg	p.G987E	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G346E	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	987	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGTGCTGGGAGCGGTGCC	0.602000													33	87					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26784856	26784856	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:26784856G>A	ENST00000381340.3	-	22	3293	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	959					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCTCGTGCTCGGTGGGGCTCC	0.522000													5	180					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471608	65471608	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:65471608G>A	ENST00000286574.4	-	3	689	c.315C>T	c.(313-315)tcC>tcT	p.S105S		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	105	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGAGCGCAAGGACAGGAATT	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								8	35					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996974	20996974	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:20996974C>T	ENST00000261383.3	-	48	7089	c.7090G>A	c.(7090-7092)Gga>Aga	p.G2364R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATAATCTCCAAAGAAGAGG	0.428000													61	112					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68529005	68529005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:68529005C>T	ENST00000265641.5	-	16	2180	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	CPT1A_ENST00000540367.1_Missense_Mutation_p.E676K|CPT1A_ENST00000539743.1_Missense_Mutation_p.E676K|CPT1A_ENST00000376618.2_Missense_Mutation_p.E676K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	676					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGACTTACTTCCTTAAGGAAA	0.448000													73	90					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053712	94053712	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:94053712G>A	ENST00000297268.6	+	41	3101	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	877			G -> C (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCTCCCTGGCTCGAGAGGT	0.473000										HNSCC(75;0.22)			6	228					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676464	65676464	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:65676464G>A	ENST00000352385.2	-	20	3845	c.3636C>T	c.(3634-3636)gaC>gaT	p.D1212D	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1212						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGCTGGAGGTCCGGGTAGG	0.667000													15	33					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48888941	48888941	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:48888941C>T	ENST00000315869.7	-	9	1514	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	419	Leucine-zipper.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGCGGTTGGCCTGCTCCAGG	0.602000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	2					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734971	140734971	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140734971C>T	ENST00000571252.1	+	1	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGTCTCCAGAGGTAGGA	0.637000													56	132					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525007	248525007	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:248525007C>T	ENST00000366475.1	+	1	125	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	42					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)			ACTGGATGGTCGGATTTCATC	0.473000													4	149					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346026	11346026	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:11346026C>T	ENST00000376810.5	+	2	1181	c.855C>T	c.(853-855)ctC>ctT	p.L285L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	285					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GCCTGGCACTCCCCCTGCTTA	0.572000													20	279					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31416006	31416006	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:31416006C>T	ENST00000225823.2	-	3	1734	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ASIC2_ENST00000359872.6_Missense_Mutation_p.E237K|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	237					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AATGTCGTTTCCTCTGAAAGA	0.502000													25	60					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038949	11038949	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11038949G>A	ENST00000470054.1	-	0	1254									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGATAATGAAAATGATGA	0.423000													34	833					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43706016	43706016	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:43706016T>A	ENST00000398437.1	+	9	1471	c.1323T>A	c.(1321-1323)tgT>tgA	p.C441*	ABCG1_ENST00000343687.3_Nonsense_Mutation_p.C306*|ABCG1_ENST00000398449.3_Nonsense_Mutation_p.C295*|ABCG1_ENST00000398457.2_Nonsense_Mutation_p.C297*|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.C295*|ABCG1_ENST00000340588.4_Nonsense_Mutation_p.C403*|ABCG1_ENST00000347800.2_Nonsense_Mutation_p.C292*|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	295	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AAGGACAATGTGTGTACCGGG	0.498000													98	254					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3226833	3226833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:3226833C>T	ENST00000602557.1	-	20	3400	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D949N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D948N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D949N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D948N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D948N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D949N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	949	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATAAAAATCTGGAAACCCA	0.388000													15	24					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80529642	80529642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:80529642C>T	ENST00000335255.5	+	4	979	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	269					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCTGATAGTTCAGGCGATTAC	0.413000													37	90					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97629830	97629830	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:97629830G>A	ENST00000275053.4	-	16	2599	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	MMS22L_ENST00000369251.2_Silent_p.I738I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	778					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAGGGCAGATGATATCATCCC	0.383000													61	138					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108380188	108380188	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:108380188C>T	ENST00000263054.6	-	20	2801	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	SORCS1_ENST00000369698.1_Missense_Mutation_p.E467K|SORCS1_ENST00000344440.6_Missense_Mutation_p.E932K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	932						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAACCCACCTCCGTGTTGTTT	0.522000													49	108					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207646239	207646239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:207646239G>A	ENST00000367057.3	+	10	1882	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	CR2_ENST00000367058.3_Missense_Mutation_p.E565K|CR2_ENST00000458541.2_Missense_Mutation_p.E538K|CR2_ENST00000367059.3_Missense_Mutation_p.E565K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	565	Sushi 9.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAGAGGAGTGGAATTCAGCCT	0.498000													65	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582444	179582444	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179582444G>C	ENST00000589042.1	-	87	25381	c.25157C>G	c.(25156-25158)tCa>tGa	p.S8386*	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8069*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7142*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8069	Ig-like 66.						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)			AAGAGGTTCTGAGCCATTGAT	0.413000													8	31					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882171	37882171	+	Silent	SNP	G	G	A	rs77701703	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37882171G>A	ENST00000356998.3	-	1	268	c.45C>T	c.(43-45)acC>acT	p.T15T	MFNG_ENST00000416983.3_Silent_p.T15T	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	15					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGCACAGGAGGGTGAGGAGGG	0.692000													23	48					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991857	85991857	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:85991857C>T	ENST00000372105.3	-	4	1719	c.1698G>A	c.(1696-1698)gaG>gaA	p.E566E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	566						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TAACTGTGGCCTCAGTGGAGT	0.582000													14	59					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734926	81734926	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:81734926G>A	ENST00000550584.2	-	19	2619	c.2324C>T	c.(2323-2325)cCt>cTt	p.P775L	PPFIA2_ENST00000548586.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P701L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P757L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P622L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P676L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P757L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P342L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	701								p.P777_T778insP(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGTAGGAGGAGGAGAAGTTTC	0.438000													5	70					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57932838	57932838	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:57932838C>T	ENST00000307658.7	+	4	2247	c.1984C>T	c.(1984-1986)Cac>Tac	p.H662Y	ZNF17_ENST00000601808.1_Missense_Mutation_p.H660Y|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAAAGTTCACACCAGATA	0.373000													4	60					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917846	29917846	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:29917846C>T	ENST00000389048.3	-	3	1728	c.822G>A	c.(820-822)ctG>ctA	p.L274L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	274	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)	GGGAATACTCCAGCTCACAGG	0.567000			"""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				52	123					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10368838	10368838	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:10368838G>A	ENST00000255381.2	-	5	536	c.426C>T	c.(424-426)gcC>gcT	p.A142A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	142	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TGCCTCGGTAGGCTGTCACCA	0.542000													96	158					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36588291	36588291	+	Splice_Site	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:36588291A>G	ENST00000431169.1	-	15	1360	c.1058_splice	c.e15-1	p.L354_splice	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Splice_Site_p.L354_splice|AOAH_ENST00000538464.1_Splice_Site_p.L76_splice|AOAH_ENST00000535891.1_Splice_Site_p.L322_splice	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	354					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTCTAGACAAGCTGAGAAGG	0.418000													18	76					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196752	41196752	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:41196752C>T	ENST00000341495.2	+	2	468	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F	TREML4_ENST00000448827.2_Missense_Mutation_p.L122F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	122	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CATCACTGTTCTTAGAAATAT	0.488000													30	138					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555513	182555513	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:182555513G>A	ENST00000367559.3	-	2	682	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RNASEL_ENST00000444138.1_Silent_p.F143F|RNASEL_ENST00000539397.1_Silent_p.F143F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	143					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTTATAAAGGAATTTTAGGG	0.463000													22	70					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901571	37901571	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:37901571C>T	ENST00000309156.4	+	10	1344	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	GRB7_ENST00000394209.2_Missense_Mutation_p.P363S|GRB7_ENST00000445327.2_Missense_Mutation_p.P386S|GRB7_ENST00000309185.3_Missense_Mutation_p.P363S|GRB7_ENST00000394211.3_Missense_Mutation_p.P363S|GRB7_ENST00000394204.1_Missense_Mutation_p.P363S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	363					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCTCCCCACCCTTGGTGAG	0.592000													32	60					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611419	17611419	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:17611419A>C	ENST00000381869.3	-	2	2371	c.1898T>G	c.(1897-1899)tTg>tGg	p.L633W	MTUS1_ENST00000381862.3_Missense_Mutation_p.L633W|MTUS1_ENST00000262102.6_Missense_Mutation_p.L633W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L633W	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	633						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCTGAAACAACGCAGAAAC	0.438000													7	135					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012887	73012887	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:73012887G>A	ENST00000308744.6	+	4	1025	c.927G>A	c.(925-927)cgG>cgA	p.R309R	NPFFR2_ENST00000358749.3_Silent_p.R207R|NPFFR2_ENST00000395999.1_Silent_p.R210R|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	309					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACTGGTGCCGGGAAGACTGGC	0.453000													34	67					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947081	40947081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:40947081G>A	ENST00000246914.5	+	14	2663	c.2642G>A	c.(2641-2643)tGg>tAg	p.W881*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	881					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGTGTCCCTGGAGTTCTCTC	0.567000													6	203					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424683	121424683	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:121424683C>T	ENST00000260197.7	+	17	2433	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	768					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAGGAAATCCATCTACCGCT	0.562000													16	182					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601998	135601998	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:135601998C>T	ENST00000513104.1	-	5	1537	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E358K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E303K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	419					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAAGGTTTCGTTTGGCAGG	0.398000													54	103					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511087	76511087	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:76511087C>T	ENST00000389840.5	-	26	3994	c.3870G>A	c.(3868-3870)gaG>gaA	p.E1290E	DNAH17_ENST00000585328.1_Silent_p.E1291E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTCCAGTCCTCGATGCTGG	0.438000													19	76					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145608358	145608358	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:145608358C>T	ENST00000308860.6	+	3	237	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ADCK5_ENST00000526231.2_3'UTR|ADCK5_ENST00000532190.1_Missense_Mutation_p.R65C	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	65						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTCGGAGCCCGCTATGTCAT	0.677000													7	10					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163163	172163163	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:172163163T>A	ENST00000241256.2	-	2	931	c.889A>T	c.(889-891)Att>Ttt	p.I297F		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	297					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATCTGAGCAATCTCCAAGGAG	0.488000													5	101					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708828	176708828	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:176708828C>T	ENST00000367662.3	+	13	5029	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1289					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						TGGCCTAGTTCCCGGAGAGCA	0.448000													53	63					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74862437	74862437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:74862437G>A	ENST00000289575.5	+	1	406	c.11G>A	c.(10-12)aGg>aAg	p.R4K	SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R4K|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R4K	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	4					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATGGGACCCAGGATAGGTAAG	0.552000													12	22					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57363926	57363926	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:57363926C>T	ENST00000439986.4	-	2	184	c.147G>A	c.(145-147)gaG>gaA	p.E49E	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	49					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGATTTTGCTCTCTGAGCAGA	0.582000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	123					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59860902	59860902	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:59860902C>T	ENST00000278888.3	+	5	510	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	136					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAAACACTGCCAGCAGCATAG	0.463000													39	78					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3692312	3692312	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:3692312C>T	ENST00000382622.3	+	8	1307	c.917C>T	c.(916-918)gCc>gTc	p.A306V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A297V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306					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)			TACGTCCACGCCCTGGTCACC	0.498000													18	31					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197421426	197421426	+	Silent	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:197421426A>G	ENST00000273582.5	-	11	1914	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	KIAA0226_ENST00000296343.5_Silent_p.L502L|KIAA0226_ENST00000389665.5_Silent_p.L502L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	502					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCAGCAATTAAGGACTCTGAG	0.473000													39	72					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655854	12655854	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:12655854G>A	ENST00000425538.1	+	10	1449	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	MYOCD_ENST00000343344.4_Missense_Mutation_p.D417N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D321N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	417					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GAACTTTGGGGATATAACGAC	0.552000													40	85					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797385	7797385	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:7797385C>T	ENST00000303635.7	+	15	3620	c.3413C>T	c.(3412-3414)tCg>tTg	p.S1138L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1138L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1138L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGGCCATCTCGATTCCCGAC	0.572000			T	WWTR1	epitheliod hemangioendothelioma								73	130					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164553	12164553	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:12164553C>T	ENST00000263932.2	+	4	608	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S18F	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	129					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.S129F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCCATTCTGTCTGTCCG	0.577000													26	41					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326841	37326841	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:37326841G>A	ENST00000262825.5	+	8	1216	c.999G>A	c.(997-999)agG>agA	p.R333R	CSF2RB_ENST00000406230.1_Silent_p.R333R|CSF2RB_ENST00000403662.3_Silent_p.R327R|CSF2RB_ENST00000536485.1_Silent_p.R274R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	327					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGCCAAGGAGGGCAGAGAAAC	0.602000													28	89					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569810	99569810	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:99569810G>A	ENST00000331335.5	-	5	1180	c.710C>T	c.(709-711)tCt>tTt	p.S237F	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000471562.1_5'UTR|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S237F|FILIP1L_ENST00000383694.2_5'UTR	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	237						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAAAGCAAAAGACTTCAGCTT	0.458000													59	105					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:28493824C>T	ENST00000412168.2	+	1	123	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	GPX6_ENST00000483058.1_Intron|GPX5_ENST00000469384.1_Missense_Mutation_p.P12S	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498000													89	308					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657511	72657511	+	RNA	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:72657511C>T	ENST00000425256.1	-	0	2400					NR_002164.1																						tgtcgtatttcgtcttcagga	0.507000													11	343					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13546067	13546067	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:13546067C>T	ENST00000295757.3	+	10	1111	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	HDAC11_ENST00000404548.1_3'UTR|HDAC11_ENST00000522202.1_Missense_Mutation_p.R259C|HDAC11_ENST00000404040.1_Missense_Mutation_p.R210C|HDAC11_ENST00000446613.2_Missense_Mutation_p.R118C|HDAC11_ENST00000402259.1_Missense_Mutation_p.R144C|HDAC11_ENST00000437379.2_Missense_Mutation_p.R282C|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000402271.1_Missense_Mutation_p.R231C	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	310	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGCACAGCCCGCATCATTGC	0.612000													47	62					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511279	56511279	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:56511279G>A	ENST00000302957.3	-	1	8	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATGAGAAGGGAAAATCATCA	0.388000													40	78					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48807953	48807953	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:48807953C>T	ENST00000309835.3	+	1	191	c.181C>T	c.(181-183)Cct>Tct	p.P61S	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P61S|STON1_ENST00000404752.1_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P61S|STON1_ENST00000406226.1_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P61S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCAGCACTCCTCTCTCCTC	0.493000													45	91					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160783293	160783293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:160783293C>T	ENST00000498165.1	+	3	778	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47L|PPM1L_ENST00000295839.9_Missense_Mutation_p.P99L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	226	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACGCTATTCCTTTGTCTCAT	0.483000													41	93					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200996	101200996	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:101200996C>T	ENST00000341267.4	+	5	1157	c.915C>T	c.(913-915)atC>atT	p.I305I	DLK1_ENST00000331224.6_Silent_p.I232I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	305					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCCAGGCCATCTGCTTCACCA	0.612000													58	123					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17445691	17445691	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:17445691C>T	ENST00000400588.1	-	8	1548	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	481										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTTCTGAGTCTGTGTTGGTG	0.567000													26	43					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847270	29847270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29847270G>A	ENST00000400552.1	+	2	102	c.102G>A	c.(100-102)tgG>tgA	p.W34*		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	34					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAGATGGATGGATCAGAAGGT	0.313000													22	48					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503921	140503921	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:140503921G>A	ENST00000194152.1	+	1	2341	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		781					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)			CACCGGGAGGGAAGTTAAGGA	0.448000													51	106					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100847539	100847539	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:100847539G>A	ENST00000358544.2	+	53	9915	c.9804G>A	c.(9802-9804)aaG>aaA	p.K3268K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3243K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3268					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCTTATAAAGGAAAACATTA	0.328000													36	49					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027632	55027632	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:55027632G>A	ENST00000371336.3	+	5	1601	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.R467K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	467					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGAAGTGGAGATTCCGAGAC	0.512000													21	48					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2601461	2601461	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:2601461G>A	ENST00000570628.1	-	10	1681	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	CLUH_ENST00000575014.1_Missense_Mutation_p.R458W|CLUH_ENST00000435359.1_Missense_Mutation_p.R526W|CLUH_ENST00000538975.1_Missense_Mutation_p.R526W					clustered mitochondria (cluA/CLU1) homolog																		TTGAGGGGCCGACTCGTGCGC	0.647000													8	7					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96137754	96137754	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:96137754G>A	ENST00000467865.1	+	0	2111				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gcacaaagtgggagcccgata	0.493000			T	TRA@	T-ALL								25	24					0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230875575	230875575	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:230875575G>A	ENST00000373652.3	+	5	870	c.449G>A	c.(448-450)gGa>gAa	p.G150E	FBXO36_ENST00000409992.1_Missense_Mutation_p.G161E|FBXO36_ENST00000283946.3_Missense_Mutation_p.G181E			Q8NEA4	FBX36_HUMAN	F-box protein 36	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAAAAATATGGAAACCTGAGA	0.532000													7	26					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682012	3682012	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:3682012G>A	ENST00000344754.4	-	6	1504	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S502F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	502	Ig-like C2-type 4.				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						GTCCAGGGTGGAGGTTGCATT	0.582000													15	38					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645948	51645948	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:51645948C>T	ENST00000317643.6	+	1	391	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	SIGLEC7_ENST00000305628.7_Silent_p.L108L|SIGLEC7_ENST00000600577.1_Silent_p.L108L	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	108	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AAATTGCACCCTGAGCATCAG	0.488000													54	139					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039485	98039485	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:98039485G>A	ENST00000370192.3	-	11	1270	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	390					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTGGGGACAGGAATGGCAGAA	0.378000													33	63					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350492	38350492	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:38350492G>C	ENST00000273173.4	+	4	914	c.823G>C	c.(823-825)Gga>Cga	p.G275R	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G275R	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	275						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)		CATTATCCTGGGACACTGCTT	0.577000													7	269					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105344784	105344784	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:105344784C>T	ENST00000453495.1	+	5	507	c.279C>T	c.(277-279)tcC>tcT	p.S93S	CEP170B_ENST00000414716.3_Silent_p.S93S|CEP170B_ENST00000418279.1_Silent_p.S23S|CEP170B_ENST00000556508.1_Silent_p.S23S					centrosomal protein 170B																		GTCCACATTCCAACATGTATG	0.622000													36	105					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603789	52603789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:52603789G>A	ENST00000395489.2	-	6	568	c.172C>T	c.(172-174)Cga>Tga	p.R58*	A1CF_ENST00000373993.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000374001.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R73*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R65*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R65*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	65	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAAAGGTCTCGGGGAAGTTTT	0.393000													46	154					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384032	108384032	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:108384032C>T	ENST00000265843.4	-	6	2312	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	EXPH5_ENST00000525344.1_Silent_p.G727G|EXPH5_ENST00000428840.1_Silent_p.G658G|EXPH5_ENST00000443411.1_Silent_p.G546G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	734					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTTTGAGATCCCTGTCTGTG	0.393000													35	33					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545228	82545228	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82545228G>A	ENST00000423517.2	-	7	12411	c.12074C>T	c.(12073-12075)cCa>cTa	p.P4025L	PCLO_ENST00000333891.8_Missense_Mutation_p.P4025L|PCLO_ENST00000437081.1_Missense_Mutation_p.P745L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3956					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						GCTTGATATTGGACTGCTTGC	0.388000													53	210					0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	95018313	95018313	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:95018313C>T	ENST00000274432.8	-	2	210	c.69G>A	c.(67-69)ggG>ggA	p.G23G	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Silent_p.G23G|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	23					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTTTCTGGATCCCCTCGACTA	0.348000													7	81					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73744353	73744353	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:73744353C>T	ENST00000276033.5	+	3	1123	c.957C>T	c.(955-957)tcC>tcT	p.S319S	SLC16A2_ENST00000587091.1_Silent_p.S245S			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	245						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCTCCATGTCCTTCCCCTTCC	0.527000													23	8					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18058713	18058713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:18058713C>T	ENST00000205890.5	+	47	8764	c.8426C>T	c.(8425-8427)gCc>gTc	p.A2809V	MYO15A_ENST00000418233.3_Missense_Mutation_p.A73V|MYO15A_ENST00000585180.1_Silent_p.G71G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2809	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCAGGAGGCCGGCGGGCAG	0.637000													47	76					0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177274	115177274	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:115177274G>A	ENST00000274459.4	-	1	274	c.117C>T	c.(115-117)ttC>ttT	p.F39F	ATG12_ENST00000509910.1_5'UTR|AP3S1_ENST00000316788.7_5'UTR	NM_004707.3	NP_004698.3	O94817	ATG12_HUMAN	autophagy related 12	0					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CTCGAGAGCGGAAGTAGCGAC	0.577000													67	153					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186457197	186457197	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186457197G>A	ENST00000265023.4	+	9	1331	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	KNG1_ENST00000447445.1_Silent_p.L337L|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L373L|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	373	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTCAACCACTGGGAATGGTAT	0.403000													8	69					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83828646	83828646	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:83828646C>T	ENST00000349129.2	+	8	1080	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L274F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L274F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	274					protein transport			p.L274F(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTCAGCAGCCCTTCATGTAGT	0.393000													11	178					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086683	186086683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:186086683C>T	ENST00000271588.4	+	77	12005	c.11776C>T	c.(11776-11778)Ccc>Tcc	p.P3926S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3926S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3926	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P3926S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTCCATTTCCCTCAATTCA	0.453000													35	119					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129210989	129210989	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:129210989C>T	ENST00000296266.3	+	18	2343	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	IFT122_ENST00000440957.2_Silent_p.F457F|IFT122_ENST00000347300.2_Silent_p.F607F|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000349441.2_Silent_p.F555F|IFT122_ENST00000507564.1_Silent_p.F658F|IFT122_ENST00000431818.2_Silent_p.F516F|IFT122_ENST00000348417.2_Silent_p.F666F	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	666					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CACAGGCCTTCATCAGAGTAC	0.433000													63	208					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064167	70064167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:70064167C>T	ENST00000370598.1	+	27	4323	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S	BAI3_ENST00000546190.1_Missense_Mutation_p.P132S|BAI3_ENST00000238918.8_Missense_Mutation_p.P374S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1168					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTCAGGATCCCATCAATGC	0.393000													38	96					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848919	245848919	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:245848919G>A	ENST00000366518.4	+	9	1595	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	KIF26B_ENST00000407071.2_Silent_p.K878K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	878	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCTGACAAGGAGCTCACCG	0.667000													9	35					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	28019582	28019582	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:28019582C>T	ENST00000256398.8	+	14	1931	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	ELP3_ENST00000521015.1_Silent_p.I504I|ELP3_ENST00000537665.1_Silent_p.I399I|ELP3_ENST00000380353.4_Silent_p.I426I|ELP3_ENST00000542181.1_Silent_p.I389I|ELP3_ENST00000524103.1_Silent_p.I446I	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	518	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGGGAAAATCGCTGTGATAT	0.488000													31	61					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639190	8639190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:8639190C>T	ENST00000378641.3	+	9	1176	c.701C>T	c.(700-702)gCa>gTa	p.A234V	PLCB1_ENST00000378637.2_Missense_Mutation_p.A234V|PLCB1_ENST00000338037.6_Missense_Mutation_p.A234V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	234					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTAGTGGTGCAAAAAGCAAA	0.303000													29	77					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47305327	47305327	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:47305327A>T	ENST00000396220.1	-	10	1224	c.1202T>A	c.(1201-1203)aTg>aAg	p.M401K	PREX1_ENST00000371941.3_Missense_Mutation_p.M401K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	401					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATCACGCTCCATGCCCAGCTT	0.607000													35	71					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579719	81579719	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:81579719G>A	ENST00000356860.3	-	39	3603	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.R301C|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R1101C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1101						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAACAGGCGGTGTGTGCTG	0.448000													8	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414084	179414084	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:179414084C>T	ENST00000589042.1	-	339	92493	c.92269G>A	c.(92269-92271)Gaa>Aaa	p.E30757K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21817K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29116K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28189K|TTN_ENST00000460472.2_Missense_Mutation_p.E21692K|TTN_ENST00000342175.6_Missense_Mutation_p.E21884K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29116							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)			TCTCTTCTTTCAAGGATATAC	0.428000													42	86					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458617	19458617	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:19458617G>A	ENST00000270570.4	+	7	722	c.636G>A	c.(634-636)ggG>ggA	p.G212G	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.G212G|SLC47A1_ENST00000395585.1_Silent_p.G212G|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Silent_p.G189G|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	212						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGCATCTTGGGGTGATGTGAG	0.502000													60	122					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362126	25362126	+	Splice_Site	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:25362126G>A	ENST00000255324.5	+	7	664	c.611_splice	c.e7-1	p.R204_splice	RNF17_ENST00000255325.5_Silent_p.R205R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Splice_Site_p.R204_splice	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	204					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAATGAAGGAAAAAGAACC	0.264000													40	75					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21737786	21737786	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:21737786G>C	ENST00000328843.6	+	37	6187	c.6156G>C	c.(6154-6156)aaG>aaC	p.K2052N	DNAH11_ENST00000409508.3_Missense_Mutation_p.K2045N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2052	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGCCCGAAAGTTCATTACGT	0.428000									Kartagener syndrome				22	51					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871769	13871769	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:13871769C>T	ENST00000265104.4	-	23	3606	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1168K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCAAATTCAGAAAGCAAG	0.403000									Kartagener syndrome				38	21					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38504209	38504209	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:38504209G>A	ENST00000263409.4	-	10	1468	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	LIFR_ENST00000453190.2_Missense_Mutation_p.P436S|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	436	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATGAAGTAGGAGTATGGGGA	0.269000			T	PLAG1	salivary adenoma								37	179					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027741	150027741	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:150027741G>A	ENST00000343855.4	+	1	804	c.248G>A	c.(247-249)gGg>gAg	p.G83E	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		TGCTTCAAGGGGAAGATTGAG	0.567000													6	269					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212463	113212463	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113212463C>A	ENST00000401783.2	-	24	4315	c.3979G>T	c.(3979-3981)Ggg>Tgg	p.G1327W	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1304W|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1327W	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1327	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGAATCCCCCAACCTGGTCT	0.473000													78	125					3.83446e-41	3.88225e-41	1	1	0
UNC79	57578	broad.mit.edu	37	14	94048655	94048655	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:94048655A>G	ENST00000553484.1	+	20	2922	c.2768A>G	c.(2767-2769)aAc>aGc	p.N923S	UNC79_ENST00000393151.2_Missense_Mutation_p.N923S|UNC79_ENST00000555664.1_Missense_Mutation_p.N923S|UNC79_ENST00000256339.4_Missense_Mutation_p.N746S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	923						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATGGGGAGAACCCAGGCAAC	0.582000													30	43					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279032	36279032	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:36279032C>T	ENST00000007510.4	+	21	3709	c.3565C>T	c.(3565-3567)Cct>Tct	p.P1189S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1028S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1025S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1189					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCTCTTCCCCTCCTGCCCA	0.682000													50	94					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53453782	53453782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:53453782C>T	ENST00000371514.3	+	11	1223	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	SCP2_ENST00000528311.1_Missense_Mutation_p.S271L|SCP2_ENST00000407246.2_Missense_Mutation_p.S328L|SCP2_ENST00000371509.4_Missense_Mutation_p.S308L|SCP2_ENST00000371513.5_Missense_Mutation_p.S308L	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	352					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGACTGATTTCAAAGGGACAC	0.368000													22	35					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10557236	10557236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:10557236C>T	ENST00000316170.3	+	1	997	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTCCCCCTGAAAAC	0.493000													94	96					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554965	135554965	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:135554965C>T	ENST00000372146.4	+	2	2523	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	653					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGACTCGCTCCCCACGACTG	0.542000													21	59					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868869	9868869	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:9868869G>A	ENST00000397902.2	-	6	1297	c.884C>T	c.(883-885)tCa>tTa	p.S295L	ZNF846_ENST00000592859.1_Missense_Mutation_p.S166L|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.S166L	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGTAAGGTATGAAGAATGGGT	0.393000													45	92					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057760	180057760	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:180057760C>T	ENST00000261937.6	-	3	273	c.195G>A	c.(193-195)caG>caA	p.Q65Q	FLT4_ENST00000393347.3_Silent_p.Q65Q|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.Q65Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	65	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGCGCCTCCTGAGCTCCTG	0.687000													25	42					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44453174	44453174	+	Silent	SNP	C	C	T	rs144632671	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44453174C>T	ENST00000372557.1	-	4	321	c.114G>A	c.(112-114)aaG>aaA	p.K38K	TNNC2_ENST00000372555.3_Silent_p.K53K			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	53	EF-hand 1.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CCAGCTCCTCCTTGGTGGGTG	0.627000													48	99					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26243877	26243877	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:26243877C>T	ENST00000265944.5	+	4	409	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MYO3A_ENST00000376301.1_Silent_p.F81F|MYO3A_ENST00000543632.1_Silent_p.F81F|MYO3A_ENST00000376302.1_Silent_p.F81F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	81	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGTCAGATTCTATGGGATAT	0.363000													56	112					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532309	100532309	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:100532309C>T	ENST00000457717.1	+	14	2035	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.V620V|MTTP_ENST00000265517.5_Silent_p.V593V	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	593	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GCAAAATTGTCCGTCGAGTTC	0.398000													29	91					0	0	1	0	0
TRAV22	28661	broad.mit.edu	37	14	22539370	22539370	+	RNA	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:22539370G>A	ENST00000390450.3	+	0	363																											AAACAGAATGGAAGATTAAGC	0.453000													17	44					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761468	92761468	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:92761468C>T	ENST00000318238.4	-	5	5033	c.3817G>A	c.(3817-3819)Gat>Aat	p.D1273N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1273N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1273N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1273										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCATATAATCAATAAAAAAG	0.338000													42	110					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73780853	73780853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:73780853G>A	ENST00000293218.3	+	2	120	c.120G>A	c.(118-120)tgG>tgA	p.W40*	H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCGTGTGGGGGGTCTTCA	0.617000													10	61					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729755	18729755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:18729755C>T	ENST00000440756.2	-	3	721	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PSD3_ENST00000327040.8_Missense_Mutation_p.E207K|PSD3_ENST00000523619.1_Missense_Mutation_p.E142K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	207					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAAAAACTTTCCTCCGTTGTT	0.448000													84	91					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764838	82764838	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:82764838G>A	ENST00000423517.2	-	3	2365	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	PCLO_ENST00000333891.8_Silent_p.S676S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	622	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGCTGTGGGGATGATTTGC	0.527000													21	59					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39176011	39176011	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:39176011G>A	ENST00000297668.6	-	7	1079	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L248F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L336F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L336F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	336	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTATAATAAAGATTTTCTAAA	0.403000													38	74					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44955833	44955833	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:44955833C>T	ENST00000261866.7	-	1	29	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	SPG11_ENST00000535302.2_Missense_Mutation_p.E5K|SPG11_ENST00000427534.2_Missense_Mutation_p.E5K|SPG11_ENST00000559193.1_Missense_Mutation_p.E5K|SPG11_ENST00000558319.1_Missense_Mutation_p.E5K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	5					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCGACCCCTTCCTCTGCAGCC	0.692000													4	29					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378591	130378591	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:130378591C>T	ENST00000529410.1	+	11	1187	c.708C>T	c.(706-708)tcC>tcT	p.S236S	L3MBTL3_ENST00000361794.2_Silent_p.S236S|L3MBTL3_ENST00000368136.2_Silent_p.S236S|L3MBTL3_ENST00000368139.2_Silent_p.S211S|L3MBTL3_ENST00000526019.1_Silent_p.S211S|L3MBTL3_ENST00000533560.1_Silent_p.S211S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	236					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GCTGGGCATCCTACCTGGAAG	0.532000													6	13					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154679399	154679399	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:154679399C>T	ENST00000404039.1	+	23	2654	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	DPP6_ENST00000427557.1_Silent_p.S646S|DPP6_ENST00000377770.3_Silent_p.S753S|DPP6_ENST00000332007.3_Silent_p.S691S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	753					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGCGTTTTCCGAGAGGTACT	0.582000													140	333					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24485575	24485575	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:24485575G>A	ENST00000327535.1	-	6	780	c.768C>T	c.(766-768)ccC>ccT	p.P256P	IFNLR1_ENST00000374421.3_Silent_p.P256P|IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374419.1_Silent_p.P173P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GCTGAAACCAGGGGTTCCCCA	0.582000													61	91					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947660	237947660	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:237947660G>A	ENST00000366574.2	+	90	12965	c.12648G>A	c.(12646-12648)gcG>gcA	p.A4216A	RYR2_ENST00000360064.6_Silent_p.A4222A|RYR2_ENST00000542537.1_Silent_p.A4200A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGTCAGCGAATAAGGAAG	0.542000													25	84					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143578	143578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:143578G>A	ENST00000283426.6	+	3	753	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	235					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCCTGTGCTGAGCTGACCCG	0.652000													33	50					0	0	1	0	0
VPS29	51699	broad.mit.edu	37	12	110933843	110933843	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:110933843G>A	ENST00000549578.1	-	2	234	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.H61Y|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.H89Y|VPS29_ENST00000549970.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	57					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTCACAATATGAACATCACCA	0.398000													48	74					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952712	52952712	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:52952712C>T	ENST00000349258.4	-	4	1778	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	THSD1_ENST00000544466.1_Missense_Mutation_p.E86K|THSD1_ENST00000258613.4_Missense_Mutation_p.E465K	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	465						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.E465K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATATTCTCCTCGTCCGAGTTC	0.642000													34	64					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37015107	37015107	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:37015107G>A	ENST00000358127.4	-	3	371	c.297C>T	c.(295-297)atC>atT	p.I99I	PAX5_ENST00000414447.1_Silent_p.I99I|PAX5_ENST00000523241.1_Silent_p.I99I|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000520281.1_Silent_p.I99I|PAX5_ENST00000377847.2_Silent_p.I99I|PAX5_ENST00000520154.1_Silent_p.I99I|PAX5_ENST00000377852.2_Silent_p.I99I|PAX5_ENST00000377853.2_Silent_p.I99I|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_5'UTR	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	99	Paired.			I -> F (in Ref. 3; AAC35286).	cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TATATTCAGCGATTTTTTCCA	0.517000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								129	285					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618544	156618544	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:156618544C>T	ENST00000329117.4	+	6	1290	c.954C>T	c.(952-954)ccC>ccT	p.P318P	BCAN_ENST00000361588.5_Silent_p.P318P|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	318	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGTCACACCCAGCCAGCGCT	0.617000													132	156					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619625	24619625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr14:24619625C>T	ENST00000324103.6	+	7	1485	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	RNF31_ENST00000559275.1_Nonsense_Mutation_p.R238*|RNF31_ENST00000382687.3_Nonsense_Mutation_p.R238*	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	389	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTGGATTCCCGAGATGCTGG	0.547000													34	91					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98914486	98914486	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:98914486C>T	ENST00000477737.1	+	24	3478	c.3274C>T	c.(3274-3276)Ctg>Ttg	p.L1092L	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1092										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCCTGCCCGCTGCTCCAGGT	0.592000													56	100					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587086	32587086	+	Silent	SNP	C	C	G	rs5998288		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:32587086C>G	ENST00000400236.3	-	5	1745	c.540G>C	c.(538-540)ctG>ctC	p.L180L	RFPL2_ENST00000400237.1_Silent_p.L270L|RFPL2_ENST00000248983.4_Silent_p.L180L|RFPL2_ENST00000248980.4_Silent_p.L209L|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	270	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCTCTGTGGTCAGCTGGATCC	0.587000													10	152					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424308	69424308	+	Silent	SNP	G	G	A	rs140170619	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:69424308G>A	ENST00000333026.3	+	6	901	c.801G>A	c.(799-801)cgG>cgA	p.R267R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	267					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TCCATGGCCGGGGCTTCACTC	0.498000													39	13					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73803482	73803482	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:73803482G>A	ENST00000223398.6	+	13	2940	c.2613G>A	c.(2611-2613)ctG>ctA	p.L871L	CLIP2_ENST00000361545.5_Silent_p.L836L|CLIP2_ENST00000395060.1_Silent_p.L871L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	871						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGCCCTCCTGAAGGAGAAGC	0.637000													45	102					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7613348	7613348	+	Silent	SNP	T	T	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:7613348T>C	ENST00000340080.4	+	4	1663	c.1242T>C	c.(1240-1242)atT>atC	p.I414I	MIOS_ENST00000405785.1_Silent_p.I414I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	414										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAACCACATTTTAGCTGGAA	0.383000													66	104					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685167	44685167	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:44685167C>T	ENST00000454036.1	+	23	3219	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S1025F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1048					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCCTGTCTCCTCTGAGGGC	0.607000													20	56					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122755667	122755667	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:122755667C>T	ENST00000194130.2	-	15	1732	c.1693G>A	c.(1693-1695)Gtt>Att	p.V565I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	565						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAAGCATAACCACAGCAACA	0.443000													34	105					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185837	127185837	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:127185837C>T	ENST00000371124.3	-	1	545	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	117						cytoplasm|cytoskeleton		p.E117K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTCGAATTTCCCTAGGATTC	0.488000													183	83					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55240706	55240706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:55240706G>A	ENST00000275493.2	+	17	2127	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	EGFR_ENST00000455089.1_Missense_Mutation_p.M605I|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.M597I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	650					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCACTGGGATGGTGGGGGCCC	0.627000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	87					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869453	234869453	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:234869453C>T	ENST00000324695.4	+	12	1436	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	TRPM8_ENST00000433712.2_Missense_Mutation_p.L154F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	466						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTTTACGGCTCTCATAAAGGA	0.428000													37	78					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36766627	36766627	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:36766627C>T	ENST00000361475.2	-	10	1676	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	TGM2_ENST00000536724.1_Silent_p.E441E|TGM2_ENST00000536701.1_Silent_p.E420E	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	501					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGACGTACTCCTCAGCGGTGT	0.597000													11	23					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156895739	156895739	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:156895739G>A	ENST00000311946.7	+	4	646	c.530G>A	c.(529-531)gGa>gAa	p.G177E	NIPAL4_ENST00000435489.2_Missense_Mutation_p.G158E|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	177						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTGGCTGCTGGAGAAGTTGCC	0.522000													52	95					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459915	107459915	+	Silent	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:107459915C>T	ENST00000409382.3	-	2	1129	c.519G>A	c.(517-519)gtG>gtA	p.V173V	ST6GAL2_ENST00000409087.3_Silent_p.V173V|ST6GAL2_ENST00000361686.4_Silent_p.V173V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	173					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCTCTTCTTCACCCGCCTCC	0.667000													62	140					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544319	154544319	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:154544319G>A	ENST00000368476.3	+	5	1284	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	340					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCGTCTTCCTGGAGAAGCTGC	0.677000													28	24					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180846	126180846	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:126180846G>A	ENST00000389709.3	-	6	1712	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	ZXDC_ENST00000336332.5_Silent_p.L553L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	553					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TATTAGCAGGGAGGTTCCCTC	0.577000													34	58					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041370	37041370	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:37041370G>A	ENST00000379242.3	+	16	2250	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	VIT_ENST00000404084.1_Missense_Mutation_p.E587K|VIT_ENST00000379241.3_Missense_Mutation_p.E613K|VIT_ENST00000497382.1_Missense_Mutation_p.E304K|VIT_ENST00000401530.1_Missense_Mutation_p.E614K|VIT_ENST00000389975.3_Missense_Mutation_p.E635K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	635	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCCCAAGAGGAGCTAGAAGT	0.512000													40	68					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262847	1262847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:1262847G>A	ENST00000447027.1	+	31	4804	c.4746G>A	c.(4744-4746)tgG>tgA	p.W1582*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W1579*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1579	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGGAACTGGGAGCAGGAGG	0.622000													12	10					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043381	119043381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:119043381G>A	ENST00000334464.5	-	5	3102	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	955					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCAGAAAGGCGAGTTTTAGAG	0.433000													7	387					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655146	46655146	+	Silent	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:46655146G>A	ENST00000253255.5	-	1	4073	c.4074C>T	c.(4072-4074)ttC>ttT	p.F1358F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1358					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATCTATAAAGAAAAAGTCTT	0.398000													37	78					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186974582	186974582	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:186974582G>A	ENST00000337774.5	-	5	1003	c.614C>T	c.(613-615)cCt>cTt	p.P205L	MASP1_ENST00000296280.6_Missense_Mutation_p.P205L|MASP1_ENST00000392470.2_Missense_Mutation_p.P179L|MASP1_ENST00000392472.2_Missense_Mutation_p.P92L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.P205L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	205	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.P205H(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTGGGGTAAGGGTTTGGGAA	0.493000													32	105					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152096385	152096385	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:152096385G>A	ENST00000409598.4	-	7	1298	c.131C>T	c.(130-132)cCa>cTa	p.P44L	SH3D19_ENST00000455740.1_Missense_Mutation_p.P44L|SH3D19_ENST00000427414.2_Missense_Mutation_p.P44L|SH3D19_ENST00000304527.4_Missense_Mutation_p.P44L|SH3D19_ENST00000409252.2_Missense_Mutation_p.P44L|SH3D19_ENST00000424281.1_Missense_Mutation_p.P44L|SH3D19_ENST00000514152.1_Missense_Mutation_p.P44L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	44					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTAGGCTTTGGAGGAAGTGA	0.458000													48	134					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163207	113163207	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:113163207C>T	ENST00000401783.2	-	40	10085	c.9749G>A	c.(9748-9750)gGa>gAa	p.G3250E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G3227E|SVEP1_ENST00000297826.5_Missense_Mutation_p.G1176E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3250	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCACAAATCCATGTTCTGG	0.408000													11	45					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179403	100179403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:100179403C>T	ENST00000310300.6	-	4	647	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	199					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCTCACCTTCGGGCAGCGTA	0.567000													35	115					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688592	1688594	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:1688592_1688594delAGG	ENST00000344463.4	-	6	952_954	c.731_733delCCT	c.(730-735)ggg>g	p.AW244del	NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTCCC	0.626													6	11	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157065	65157066	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:65157065_65157066insG	ENST00000371073.2	+	27	3646_3647	c.3646_3647insG	c.(3646-3648)gtcfs	p.V1216fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.V1165fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1216					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAATGACCCCTTGTCAGCCGGG	0.510													17	126	---	---	---	---					
RP11-202K23.1	0	broad.mit.edu	37	1	102799499	102799500	+	RNA	INS	-	-	AC	rs143996633	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:102799499_102799500insAC	ENST00000447916.1	-	0	339																											CAGGGAAacatacacacacaca	0.356													3	4	---	---	---	---					
RP5-1125M8.2	0	broad.mit.edu	37	1	111866258	111866258	+	RNA	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:111866258delA	ENST00000426321.1	-	0	148																											tacctgacctaccattcattt	0.443													2	4	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142657355	142657356	+	RNA	INS	-	-	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:142657355_142657356insT	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							TGCCTGTTCCCTGGCCCCCTCC	0.589													3	6	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	143989141	143989147	+	RNA	DEL	AAGGCTC	AAGGCTC	-	rs67935580		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:143989141_143989147delAAGGCTC	ENST00000467933.1	+	0	915																											gtggagccctaaggctcaagtgtgctt	0.498													4	4	---	---	---	---					
LINC00869	57234	broad.mit.edu	37	1	149285546	149285547	+	RNA	INS	-	-	A	rs144216017	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:149285546_149285547insA	ENST00000424684.1	+	0	254					NR_046136.1|NR_046138.1|NR_046139.1																						ttctgtctctcaaaaaaaaTGC	0.525													5	6	---	---	---	---					
RGL1	23179	broad.mit.edu	37	1	183881293	183881294	+	In_Frame_Ins	INS	-	-	TGG			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:183881293_183881294insTGG	ENST00000304685.3	+	16	2206_2207	c.1745_1746insTGG	c.(1744-1746)tgg>tTGGgg	p.582_582W>LG	RGL1_ENST00000360851.3_In_Frame_Ins_p.547_547W>LG|RGL1_ENST00000539189.1_In_Frame_Ins_p.518_518W>LG|RGL1_ENST00000367531.1_In_Frame_Ins_p.582_582W>LG|RGL1_ENST00000536277.1_In_Frame_Ins_p.545_545W>LG	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	547	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCGGGAGCTCTGGTGAAAGCA	0.554													53	123	---	---	---	---					
LINC01036	104169671	broad.mit.edu	37	1	187101188	187101188	+	RNA	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:187101188delA	ENST00000458683.1	+	0	105																											gccacagaataaaataacaag	0.308													2	4	---	---	---	---					
RP11-373J16.1	0	broad.mit.edu	37	1	188917388	188917389	+	RNA	INS	-	-	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:188917388_188917389insT	ENST00000445072.1	+	0	239																											agctaattttgttttttgtaga	0.416													2	4	---	---	---	---					
CTD-2090I13.1	0	broad.mit.edu	37	1	227594624	227594625	+	RNA	INS	-	-	AT			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr1:227594624_227594625insAT	ENST00000445817.1	+	0	210																											aaaaacagtagatattggtgtg	0.386													2	4	---	---	---	---					
ADD2	119	broad.mit.edu	37	2	70890601	70890602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:70890601_70890602insC	ENST00000264436.3	-	16	2580_2581	c.2136_2137insG	c.(2134-2139)ccccttfs	p.L713fs	ADD2_ENST00000407644.2_Frame_Shift_Ins_p.L713fs	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	713	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCAGGAAGGAGGGGGTTCGGA	0.540													106	243	---	---	---	---					
ANKRD20A8P	729171	broad.mit.edu	37	2	95504830	95504831	+	RNA	INS	-	-	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr2:95504830_95504831insT	ENST00000432432.2	-	0	906					NR_040113.1																						TGTTGTTGTTGTTTTGGTTTGG	0.351													2	4	---	---	---	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.103_splice	c.e1+1	p.ED34_splice	XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	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				7	84	---	---	---	---					
LINC00693	645206	broad.mit.edu	37	3	28699280	28699282	+	RNA	DEL	TTT	TTT	-	rs140798140		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr3:28699280_28699282delTTT	ENST00000432518.2	+	0	809				LINC00693_ENST00000445077.1_RNA|LINC00693_ENST00000443912.1_RNA	NR_038840.1																						AACTAAAGGCttttttttttttt	0.365													2	4	---	---	---	---					
KDR	3791	broad.mit.edu	37	4	55984850	55984850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:55984850delC	ENST00000263923.4	-	3	574	c.279delG	c.(277-279)gtfs	p.V93fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	93	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTCCGATCACTTTTGGAA	0.468			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			29	107	---	---	---	---					
SRD5A3	79644	broad.mit.edu	37	4	56230278	56230278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:56230278delA	ENST00000264228.4	+	3	630	c.402delA	c.(400-402)gtfs	p.V134fs	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	134					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TAGTGCTAGTATTTCTGTGGC	0.458													73	133	---	---	---	---					
SYNPO2	171024	broad.mit.edu	37	4	119953026	119953027	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:119953026_119953027insC	ENST00000307142.4	+	4	3292_3293	c.3096_3097insC	c.(3094-3099)tcctccfs	p.S1033fs	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Frame_Shift_Ins_p.S1033fs|SYNPO2_ENST00000434046.2_Frame_Shift_Ins_p.S1033fs	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1033						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTATACCTCTCCTCCTTCCTT	0.564													33	62	---	---	---	---					
RP11-427M20.1	0	broad.mit.edu	37	4	134850005	134850006	+	RNA	INS	-	-	AT	rs113228325	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:134850005_134850006insAT	ENST00000507844.1	-	0	223																											ATTAGTATATCATGTCTGGATA	0.312													4	3	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190832284	190832284	+	RNA	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr4:190832284delG	ENST00000511785.1	-	0	231																											TTATCAATATGGAAAAAAAAA	0.328													2	4	---	---	---	---					
UTP15	84135	broad.mit.edu	37	5	72864345	72864345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr5:72864345delT	ENST00000296792.4	+	4	539	c.284delT	c.(283-285)ctfs	p.L95fs	UTP15_ENST00000508491.1_Frame_Shift_Del_p.L76fs|UTP15_ENST00000543251.1_5'UTR	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	95					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		GGTAGATTGCTTGTGGCTGGC	0.428													47	89	---	---	---	---					
SERPINB9P1	221756	broad.mit.edu	37	6	2861824	2861825	+	RNA	INS	-	-	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2861824_2861825insA	ENST00000545177.2	-	0	135																											gaacccaccagaaaaaaaaaac	0.441													2	4	---	---	---	---					
NQO2	4835	broad.mit.edu	37	6	2996594	2996594	+	RNA	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:2996594delA	ENST00000456189.1	-	0	127				RP1-90J20.8_ENST00000429319.1_RNA																							acaaatagacaaacaacccaa	0.408													2	4	---	---	---	---					
MCM3	4172	broad.mit.edu	37	6	52144263	52144263	+	Frame_Shift_Del	DEL	A	A	-	rs61753602	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:52144263delA	ENST00000596288.1	-	5	828	c.801delT	c.(799-801)gafs	p.D269fs	MCM3_ENST00000419835.2_Frame_Shift_Del_p.D178fs|MCM3_ENST00000229854.7_Frame_Shift_Del_p.D224fs	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	224					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCAAGTCATCATCCAGAATGA	0.587													76	230	---	---	---	---					
LOC101927640	101927640	broad.mit.edu	37	6	112615698	112615698	+	RNA	DEL	A	A	-	rs112893146		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr6:112615698delA	ENST00000587816.1	+	0	111				RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA																							ggaaaaaaataaaaaaaaaaa	0.343													2	4	---	---	---	---					
AC073316.1	0	broad.mit.edu	37	7	3337370	3337371	+	RNA	INS	-	-	AGA	rs79393726	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:3337370_3337371insAGA	ENST00000437354.1	-	0	224																											ggaggaggaggagaagaagaag	0.436													3	6	---	---	---	---					
MACC1	346389	broad.mit.edu	37	7	20198832	20198832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:20198832delA	ENST00000400331.5	-	5	1460	c.1152delT	c.(1150-1152)ttfs	p.F384fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.F384fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.F384fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	384					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAACAACAGTAAAACTGGGAT	0.383													30	58	---	---	---	---					
AC009262.2	0	broad.mit.edu	37	7	34264840	34264840	+	RNA	DEL	C	C	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:34264840delC	ENST00000446484.1	+	0	93																											gaaggagaagccagtgggaga	0.463													2	4	---	---	---	---					
AC003088.1	0	broad.mit.edu	37	7	110169519	110169521	+	RNA	DEL	TGG	TGG	-	rs139244987		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:110169519_110169521delTGG	ENST00000435466.1	-	0	166																											TGGTGGCTTCTGGTGGTTGGTTC	0.443													3	3	---	---	---	---					
TRBC2	28638	broad.mit.edu	37	7	142499728	142499751	+	RNA	DEL	GTGTGAGGGAGGCCAGAGCCACCT	GTGTGAGGGAGGCCAGAGCCACCT	-	rs115597694	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr7:142499728_142499751delGTGTGAGGGAGGCCAGAGCCACCT	ENST00000466254.1	+	0	405																											GGACACAGGGGTGTGAGGGAGGCCAGAGCCACCTGTGCACAGGT	0.545													7	426	---	---	---	---					
LOC101927815	101927815	broad.mit.edu	37	8	2577925	2577925	+	RNA	DEL	T	T	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:2577925delT	ENST00000520570.1	-	0	88																											ctttgacacctttttccaatt	0.483													2	4	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73848821	73848822	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr8:73848821_73848822insT	ENST00000523207.1	+	3	1819_1820	c.1231_1232insT	c.(1231-1233)tccfs	p.S411fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	411					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGTTATTGCCCTTCCTATCCCA	0.441													44	101	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66466004	66466005	+	RNA	INS	-	-	A	rs139328647		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:66466004_66466005insA	ENST00000424345.1	+	0	637_638																											GATTCTTCAGTAAAAAAAAGTA	0.307													3	6	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68399323	68399323	+	RNA	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr9:68399323delG	ENST00000417843.2	-	0	2149																											TCTTGCTGTTGGGGTTGGTGG	0.438													3	5	---	---	---	---					
TMEM254-AS1	219347	broad.mit.edu	37	10	81838312	81838312	+	RNA	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:81838312delG	ENST00000412298.1	-	0	169				TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA	NR_027428.1																						GGGCCAGACAGGGAGACTCGC	0.662													2	4	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104565	102104576	+	RNA	DEL	GAGCTTGGCTGT	GAGCTTGGCTGT	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr10:102104565_102104576delGAGCTTGGCTGT	ENST00000429420.1	-	0	103																											CAAAATTAAGGAGCTTGGCTGTAAACAAAATA	0.363													46	210	---	---	---	---					
LGR4	55366	broad.mit.edu	37	11	27390692	27390693	+	Splice_Site	INS	-	-	A			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:27390692_27390693insA	ENST00000379214.4	-	18	2023		c.e18-2		LGR4_ENST00000389858.4_Splice_Site	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4							integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAAAAGCACCTAAAAAAAACAC	0.312													14	44	---	---	---	---					
RP11-50B3.2	0	broad.mit.edu	37	11	126039164	126039164	+	RNA	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr11:126039164delG	ENST00000532357.1	+	0	132																											GACTTTATTTGACACTTAGTA	0.358													2	4	---	---	---	---					
C12orf39	80763	broad.mit.edu	37	12	21680708	21680708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:21680708delG	ENST00000256969.2	+	4	359	c.193delG	c.(193-195)acfs	p.D65fs		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	65						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GGACCTCTCCGACCGGCCACT	0.667													2	4	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56563627	56563629	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:56563627_56563629delCTT	ENST00000394023.3	-	24	2584_2586	c.2479_2481delAAG	c.(2479-2481)del	p.K827del	SMARCC2_ENST00000267064.4_In_Frame_Del_p.K796del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_In_Frame_Del_p.K827del|SMARCC2_ENST00000550164.1_In_Frame_Del_p.K827del	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	796	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTCCTCATCCTTCTTGGGAGCC	0.522													48	112	---	---	---	---					
RP11-511B23.2	0	broad.mit.edu	37	12	93517619	93517619	+	RNA	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:93517619delA	ENST00000550324.1	-	0	85				RP11-511B23.2_ENST00000549930.1_RNA																							aaaaataaataaaaaaaaaaG	0.393													2	4	---	---	---	---					
POLR3B	55703	broad.mit.edu	37	12	106853058	106853058	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr12:106853058delG	ENST00000228347.4	+	22	2704	c.2482delG	c.(2482-2484)tafs	p.V828fs	POLR3B_ENST00000539066.1_Frame_Shift_Del_p.V770fs	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	828					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACAAGTGCTTGTAAATAAGTC	0.388													11	139	---	---	---	---					
LINC00558	100861552	broad.mit.edu	37	13	54398280	54398280	+	RNA	DEL	A	A	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr13:54398280delA	ENST00000569422.1	+	0	75					NR_047488.1																						attcaggtataatctttgact	0.343													2	4	---	---	---	---					
RP11-509A17.3	0	broad.mit.edu	37	15	20561624	20561625	+	RNA	INS	-	-	TGTGTA	rs58063337		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:20561624_20561625insTGTGTA	ENST00000557528.1	+	0	760																											gtgtgtgtgtgtgtgtgtgttt	0.520													6	2	---	---	---	---					
TARSL2	123283	broad.mit.edu	37	15	102249097	102249125	+	Splice_Site	DEL	CTGTGCTGGACACTGCTCTAAAAAGAAGA	CTGTGCTGGACACTGCTCTAAAAAGAAGA	-	rs61736292	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr15:102249097_102249125delCTGTGCTGGACACTGCTCTAAAAAGAAGA	ENST00000335968.3	-	6	1029_1045	c.812_splice	c.e6-1	p.S271_splice		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	271					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGACAATTCTGTGCTGGACACTGCTCTAAAAAGAAGAGCAGAGAACC	0.410													8	91	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32118199	32118200	+	RNA	DEL	AT	AT	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr16:32118199_32118200delAT	ENST00000564145.1	-	0	456																											acaaaataacataaaccgggtg	0.386													4	4	---	---	---	---					
SLC13A5	284111	broad.mit.edu	37	17	6604446	6604453	+	Splice_Site	DEL	CTACAAGA	CTACAAGA	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:6604446_6604453delCTACAAGA	ENST00000433363.2	-	6	950		c.e6-1		SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5							integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGGAAACAACCTACAAGAAGACACCGGC	0.611													7	34	---	---	---	---					
CCDC42	146849	broad.mit.edu	37	17	8638781	8638785	+	Frame_Shift_Del	DEL	ATCTC	ATCTC	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:8638781_8638785delATCTC	ENST00000293845.3	-	5	863_867	c.637_641delGAGAT	c.(637-642)cfs	p.EI213fs	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	213				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTGCTGCAGGATCTCATCATCCTTT	0.634													34	93	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20851970	20851970	+	RNA	DEL	T	T	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:20851970delT	ENST00000582583.1	+	0	123				RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA																							ATGGACGTTATTTTAATGATA	0.408													2	4	---	---	---	---					
AC004231.2	0	broad.mit.edu	37	17	39130721	39130724	+	RNA	DEL	TCTT	TCTT	-	rs12941907	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:39130721_39130724delTCTT	ENST00000418393.1	+	0	385																											tttctttctctctttctttctttc	0.377													2	4	---	---	---	---					
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs11403368		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14					NR_047479.1																						accctgatctatcatcgggagg	0.550													7	65	---	---	---	---					
NGFR	4804	broad.mit.edu	37	17	47587951	47587955	+	Frame_Shift_Del	DEL	ACAAC	ACAAC	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr17:47587951_47587955delACAAC	ENST00000172229.3	+	4	871_875	c.746_750delACAAC	c.(745-750)gfs	p.DN249fs	NGFR_ENST00000504201.1_Frame_Shift_Del_p.DN155fs|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	249					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GGCACCACCGACAACCTCATCCCTG	0.605													32	106	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22901963	22901983	+	Splice_Site	DEL	ATTGTTTACCTGTCAGTTGAC	ATTGTTTACCTGTCAGTTGAC	-	rs45590038	byFrequency	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:22901963_22901983delATTGTTTACCTGTCAGTTGAC	ENST00000361524.3	-	3	357_369	c.220_splice	c.e3+1	p.70_splice	ZNF521_ENST00000538137.2_Splice_Site_p.70_splice|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	70					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGATAAGTATTGTTTACCTGTCAGTTGACATTGATTAAT	0.380			T	PAX5	ALL								26	85	---	---	---	---					
LOC100287225	100287225	broad.mit.edu	37	18	48967698	48967698	+	RNA	DEL	C	C	-	rs148030020	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr18:48967698delC	ENST00000578152.1	+	0	216					NR_040075.1																						gaagatagtgctaaatgattc	0.478													3	3	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40430492	40430492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40430492delT	ENST00000221347.6	-	3	1458	c.1451delA	c.(1450-1452)gcfs	p.D484fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	484	VWFD 1.					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)			GCGACGGCCGTCGAAGGTGGT	0.682													7	16	---	---	---	---					
TTC9B	148014	broad.mit.edu	37	19	40723159	40723159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr19:40723159delT	ENST00000311308.6	-	2	562	c.545delA	c.(544-546)tcfs	p.Y182fs		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	182							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCCCAGGTGGTAGAAGGCAAT	0.662													24	46	---	---	---	---					
FAM182A	284800	broad.mit.edu	37	20	26057515	26057516	+	RNA	INS	-	-	A	rs137975858	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:26057515_26057516insA	ENST00000376398.2	+	0	819					NR_026713.1															breast(1)|endometrium(2)|kidney(1)	4						agaaggagaacatttcttgatg	0.391													4	3	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29595625	29595625	+	RNA	DEL	T	T	-	rs111897002		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29595625delT	ENST00000432067.1	-	0	74																											TGTAAAAAAATCACAGGATCC	0.408													2	4	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29632673	29632674	+	Frame_Shift_Ins	INS	-	-	G	rs141931431	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr20:29632673_29632674insG	ENST00000278882.3	+	8	868_869	c.488_489insG	c.(487-489)caafs	p.Q163fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.Q163fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGTAAAATTCTTAAAAAGGCTC	0.317													76	1383	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11066883	11066884	+	RNA	INS	-	-	AA	rs147216020		TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11066883_11066884insAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGAATCCATAATACTCTCAG	0.366													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11069159	11069160	+	RNA	DEL	TA	TA	-	rs4009917	by1000genomes	TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:11069159_11069160delTA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aataatatattaaaaaaaactt	0.277													2	4	---	---	---	---					
AP000282.2	0	broad.mit.edu	37	21	34409124	34409125	+	RNA	INS	-	-	T			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr21:34409124_34409125insT	ENST00000454622.1	-	0	201				AP000282.2_ENST00000420356.1_RNA																							CTCATTCACTATTTTTTTTTGT	0.431													2	4	---	---	---	---					
BRD1	23774	broad.mit.edu	37	22	50169739	50169739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chr22:50169739delC	ENST00000216267.8	-	10	3283	c.2797delG	c.(2797-2799)tgfs	p.V933fs	BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Frame_Shift_Del_p.V621fs|BRD1_ENST00000342989.5_Frame_Shift_Del_p.V659fs|BRD1_ENST00000404034.1_Frame_Shift_Del_p.V933fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.V1064fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	933	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGGCCCACACCACCTTCAGA	0.682													25	63	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154091357	154091369	+	Splice_Site	DEL	CTATTTAAATCAC	CTATTTAAATCAC	-			TCGA-FR-A726-01A-11D-A32N-08	TCGA-FR-A726-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8bc7e-7db7-4d3d-a295-204f385216aa	bdde0277-af3d-4c7d-a846-c8fe3fef8af5	g.chrX:154091357_154091369delCTATTTAAATCAC	ENST00000360256.4	-	23	6763_6775	c.6574_splice	c.e23+1	p.CDLNS2188_splice	F8_ENST00000330287.6_Splice_Site_p.CDLNS53_splice	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2188	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGGCACTTACTATTTAAATCACAGCCCATCAA	0.451													38	39	---	---	---	---					
